Harris, Emily --- "Is Prevention Really Better than Cure? An Exploration of Predictive Genetic Screening as a Future Health Service for New Zealand" [2006] NZLawStuJl 9; (2006) 1 NZLSJ 107

Last Updated: 17 November 2012

IS PREVENTION REALLY BETTER THAN CURE?

AN EXPLORATION OF PREDICTIVE GENETIC SCREENING AS A

FUTURE HEALTH SERVICE FOR NEW ZEALAND

EMILY HARRIS^*

Introduction

Predictive genetic screening is a technology that can be applied to a population to determine each person’s risk of developing a particular genetic disease in the future. Whilst genetic screening has not yet been undertaken in New Zealand, the technology is already in use overseas.¹

Currently, New Zealand has not made any specific legislative provision for genetic screening, but the introduction of a new Public Health Bill that might deal with genetic screening is planned.² The Bill has not yet been drafted, which makes now the ideal time to consider the adequacy of New Zealand’s existing legal framework to deal with genetic screening, and look at what guidance the regulation of genetic screening in other jurisdictions could provide in drafting the Public Health Bill.

This paper will examine the potential benefits and risks of genetic screening in relation to the paradigm of a competent adult, and briefly mention some additional concerns that might arise if a genetic screening programme were targeted at newborns or children. The possibility of genetic screening prior to birth will not be considered in this paper. Prenatal screening raises different concerns to postnatal screening, and therefore would likely be regulated differently from postnatal screening.

^* Candidate for LLB(Hons) BSc, University of Otago.

^{1 For example, Tay-Sachs carrier screening has been carried out since 1970 in Jewish}

populations (See, eg, Paul Edelson, 'The Tay-Sachs Disease Screening Program in the U.S. As a Model for the Control of Genetic Disease: An Historical View' (1997) 7 Health Matrix 125); Premarital screening for thalessemia carrier status has been carried out in Cyprus since the 1970s (See, eg, Panayiotis Ioannou, ‘Thalessemia Prevention in Cyprus’ in Ruth Chadwick et al (eds), The Ethics of Genetic Screening (1999) pp. 55, 58).

^{2 Ministry of Health, Health Act Review and the Proposed Public Health Bill}

http://www.moh.govt.nz/moh.nsf/wpg_Index/News+and+Issues- Health+Act+review+and+the+proposed+Public+Health+Bill at 18 May 2006.

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A: What is ‘Genetic Screening’?

The term ‘genetic screening’ can be used in different senses in different contexts. In this paper, ‘genetic screening’ means testing a large number of people, who do not necessarily have disease symptoms or any indication that they are at increased risk of disease, for their genetic status in relation to a particular disease.³

Genetic screening can be used to detect disease-causing genes before disease symptoms manifest. Screening for genes which make an individual very likely or almost certain to develop a disease is known as pre-symptomatic screening. Pre-symptomatic screening must be distinguished from susceptibility (or pre-disposition) screening, which tests for genes that increase a person’s risk of developing a disease but are not the sole determinant of whether a person will develop the disease. Environmental factors also play a role in the development of these diseases, known as multifactorial diseases. Most cancers and some forms of diabetes are multifactorial diseases.

Genetic screening could also be used to determine whether a person is a carrier of a recessive disease allele.⁴ A person who has a recessive disease allele will not suffer from the disease, but their children could be affected if their partner also carries the same recessive allele. This is called carrier screening, the unique implications of which will not be covered in this paper.

B: The Benefits that Genetic Screening could bring to New Zealand

The broad aim of population screening is to reduce the morbidity and mortality associated with a disease.⁵ The population as a whole benefits from reduced incidence and severity of a disease because less of the limited healthcare budget needs to be spent on its treatment.

A: What is ‘Genetic Screening’?

The term ‘genetic screening’ can be used in different senses in different contexts. In this paper, ‘genetic screening’ means testing a large number of people, who do not necessarily have disease symptoms or any indication that they are at increased risk of disease, for their genetic status in relation to a particular disease.³

Genetic screening can be used to detect disease-causing genes before disease symptoms manifest. Screening for genes which make an individual very likely or almost certain to develop a disease is known as pre-symptomatic screening. Pre-symptomatic screening must be distinguished from susceptibility (or pre-disposition) screening, which tests for genes that increase a person’s risk of developing a disease but are not the sole determinant of whether a person will develop the disease. Environmental factors also play a role in the development of these diseases, known as multifactorial diseases. Most cancers and some forms of diabetes are multifactorial diseases.

Genetic screening could also be used to determine whether a person is a carrier of a recessive disease allele.⁴ A person who has a recessive disease allele will not suffer from the disease, but their children could be affected if their partner also carries the same recessive allele. This is called carrier screening, the unique implications of which will not be covered in this paper.

B: The Benefits that Genetic Screening could bring to New Zealand

The broad aim of population screening is to reduce the morbidity and mortality associated with a disease.⁵ The population as a whole benefits from reduced incidence and severity of a disease because less of the limited healthcare budget needs to be spent on its treatment.

³ See Australian Law Reform Commission, Essentially Yours: The Protection of Human Genetic

Information in Australia, ALRC 96 (2003), ch. 24.

^{4 Genes can exist in different forms, called ‘alleles’. For example, the gene for eye colour}

has a ‘blue’ allele and a ‘brown’ allele. In relation to disease-causing genes, a person could have a ‘normal’ allele or a ‘disease’ allele.

⁵ National Health Committee, Screening to Improve Health in New Zealand: Criteria to Assess

^{Screening Programmes (2003), p. 6.}

³ See Australian Law Reform Commission, Essentially Yours: The Protection of Human Genetic
Information in Australia, ALRC 96 (2003), ch. 24.
^{4 Genes can exist in different forms, called ‘alleles’. For example, the gene for eye colour}
has a ‘blue’ allele and a ‘brown’ allele. In relation to disease-causing genes, a person could have a ‘normal’ allele or a ‘disease’ allele.
⁵ National Health Committee, Screening to Improve Health in New Zealand: Criteria to Assess
^{Screening Programmes (2003), p. 6.}

Predictive Genetic Screening in New Zealand 109

Individuals may benefit from participation in a population genetic screening programme in many ways. Knowledge of a risk of disease could allow the initiation of preventive strategies against the disease, such as administering prophylactic drugs, more frequent screening for the manifestation of diseases like cancer, or lifestyle changes such as diet alteration⁶ and avoiding exposure to disease-causing environmental agents.⁷

Participation in genetic screening may be psychologically beneficial. Those with negative results, showing they are not at increased risk of a disease, are likely to feel relief and reassurance. Where there is a family history of the disease being screened for, even a positive test result can be psychologically beneficial, because it provides certainty as to the individual’s disease risk status.⁸ Knowledge of their disease risk may prompt the individual to take steps to plan for their future that they might not have taken without that knowledge.⁹

Genetic screening programmes have several potential advantages over existing disease screening programmes. Genetic tests do not require any manifestation of disease symptoms to detect a risk of disease, so screening can be carried out at any age.¹⁰ DNA samples can be obtained by relatively non-invasive techniques like cheek swabs or saliva samples rather than invasive biopsies. It will usually be more

Predictive Genetic Screening in New Zealand 109




Individuals may benefit from participation in a population genetic screening programme in many ways. Knowledge of a risk of disease could allow the initiation of preventive strategies against the disease, such as administering prophylactic drugs, more frequent screening for the manifestation of diseases like cancer, or lifestyle changes such as diet alteration⁶ and avoiding exposure to disease-causing environmental agents.⁷

Participation in genetic screening may be psychologically beneficial. Those with negative results, showing they are not at increased risk of a disease, are likely to feel relief and reassurance. Where there is a family history of the disease being screened for, even a positive test result can be psychologically beneficial, because it provides certainty as to the individual’s disease risk status.⁸ Knowledge of their disease risk may prompt the individual to take steps to plan for their future that they might not have taken without that knowledge.⁹

Genetic screening programmes have several potential advantages over existing disease screening programmes. Genetic tests do not require any manifestation of disease symptoms to detect a risk of disease, so screening can be carried out at any age.¹⁰ DNA samples can be obtained by relatively non-invasive techniques like cheek swabs or saliva samples rather than invasive biopsies. It will usually be more

⁶ Nuffield Council on Bioethics, Genetic Screening: Ethical Issues (1993), p. 5; Dorothy Wertz et al (for the World Health Organization), Review of Ethical Issues in Medical Genetics (2003), p. 5.

⁷ World Health Organization, Genomics and World Health: Report of the Advisory Committee on

^{Health Research (2002), p. 55.}

⁸ Studies have shown that this can reduce anxiety. See Marita Broadstock et al,

^{‘Psychological Consequences of Predictive Genetic Testing: A Systematic Review’ (2000)}

8 European Journal of Human Genetics 731, p. 736.

^{9 For example, making a will or setting aside money for future treatment or care. See}

generally, American Society for Human Genetics and American College of Medical Genetics, ‘Points to Consider: Ethical, Legal and Psychosocial Implications of Genetic Testing in Children and Adolescents’ (1995) 57 American Journal of Human Genetics 1233, p.

^1236.

¹⁰ Angus Clarke, ‘The Genetic Testing of Children’ in Ruth Chadwick et al (eds), The

^{Ethics of Genetic Screening (1999) 231, p. 231.}

⁶ Nuffield Council on Bioethics, Genetic Screening: Ethical Issues (1993), p. 5; Dorothy Wertz et al (for the World Health Organization), Review of Ethical Issues in Medical Genetics (2003), p. 5.
⁷ World Health Organization, Genomics and World Health: Report of the Advisory Committee on
^{Health Research (2002), p. 55.
8} Studies have shown that this can reduce anxiety. See Marita Broadstock et al,
^{‘Psychological Consequences of Predictive Genetic Testing: A Systematic Review’ (2000)}
8 European Journal of Human Genetics 731, p. 736.
^{9 For example, making a will or setting aside money for future treatment or care. See}
generally, American Society for Human Genetics and American College of Medical Genetics, ‘Points to Consider: Ethical, Legal and Psychosocial Implications of Genetic Testing in Children and Adolescents’ (1995) 57 American Journal of Human Genetics 1233, p.
^1236.
10 Angus Clarke, ‘The Genetic Testing of Children’ in Ruth Chadwick et al (eds), The
^{Ethics of Genetic Screening (1999) 231, p. 231.}

cost-effective to predict the future risk of disease and take preventive steps, than to diagnose and treat diseases when symptoms manifest.¹¹

Epidemiological data on genetic diseases gathered from population screening would be invaluable to researchers. Better understanding of the epidemiology of genetic diseases is the first step towards understanding their causes, which could ultimately lead to better treatment and/or preventive strategies.¹²

C: The Risks Associated With Population Genetic Screening

Like most medical tests, genetic tests can produce false results due to human error and the unavoidable inherent limitations of the test.¹³ A false positive result indicates that an individual has the disease-causing allele being tested for when in fact they do not. A false positive result is likely to cause unnecessary anxiety,¹⁴ and may lead to unnecessary invasive diagnostic tests, treatment or preventive measures.¹⁵ On the other hand, a false negative result indicates that an individual does not have the disease-causing allele when in fact they do. A false negative result might cause an individual to miss out on beneficial preventive interventions,¹⁶ and to feel falsely reassured about the state of their health.¹⁷

Genetic test results can be complex and uncertain. Predictive testing cannot determine when disease symptoms will manifest, or the severity of symptoms that will be experienced by an individual.¹⁸ Pre- disposition testing cannot determine whether an individual will develop

cost-effective to predict the future risk of disease and take preventive steps, than to diagnose and treat diseases when symptoms manifest.¹¹

Epidemiological data on genetic diseases gathered from population screening would be invaluable to researchers. Better understanding of the epidemiology of genetic diseases is the first step towards understanding their causes, which could ultimately lead to better treatment and/or preventive strategies.¹²

C: The Risks Associated With Population Genetic Screening

Like most medical tests, genetic tests can produce false results due to human error and the unavoidable inherent limitations of the test.¹³ A false positive result indicates that an individual has the disease-causing allele being tested for when in fact they do not. A false positive result is likely to cause unnecessary anxiety,¹⁴ and may lead to unnecessary invasive diagnostic tests, treatment or preventive measures.¹⁵ On the other hand, a false negative result indicates that an individual does not have the disease-causing allele when in fact they do. A false negative result might cause an individual to miss out on beneficial preventive interventions,¹⁶ and to feel falsely reassured about the state of their health.¹⁷

Genetic test results can be complex and uncertain. Predictive testing cannot determine when disease symptoms will manifest, or the severity of symptoms that will be experienced by an individual.¹⁸ Pre- disposition testing cannot determine whether an individual will develop

¹¹ See British Medical Association, Population Screening and Genetic Testing: A Briefing on

^{Current Programmes and Technologies (2005), p. 4.}

¹² See generally Sandrine Sabatier (for the Council of Europe), Report of the Working Party on Human Genetics (1997), ch. 1.

¹³ See Denise Goh Li Meng, Medical, Ethical, Legal and Social Issues in Genetic Testing and

^{Genetic Screening Programs (2005), ch. 5.}

¹⁴ Darren Shickle, ‘The Wilson and Jungner Principles of Screening and Genetic Testing’

^{in Ruth Chadwick et al (eds), The Ethics of Genetic Screening (1999), pp. 1, 32.}

¹⁵ See British Medical Association, supra n. 11, p. 3.

^{16 Australian Law Reform Commission, Essentially Yours, supra n 3, ch. 24.}

¹⁷ Shickle, supra n. 14, p. 33.

^{18 Lori Andrews and Erin Shaugnessy Zuiker, 'Ethical, Legal, and Social Issues in Genetic}

Testing for Complex Genetic Diseases' (2003) 37 Valparaiso University Law Review 793, p.

^807.

¹¹ See British Medical Association, Population Screening and Genetic Testing: A Briefing on
^{Current Programmes and Technologies (2005), p. 4.
12} See generally Sandrine Sabatier (for the Council of Europe), Report of the Working Party on Human Genetics (1997), ch. 1.
¹³ See Denise Goh Li Meng, Medical, Ethical, Legal and Social Issues in Genetic Testing and
^{Genetic Screening Programs (2005), ch. 5.
14} Darren Shickle, ‘The Wilson and Jungner Principles of Screening and Genetic Testing’
^{in Ruth Chadwick et al (eds), The Ethics of Genetic Screening (1999), pp. 1, 32.
15} See British Medical Association, supra n. 11, p. 3.
^{16 Australian Law Reform Commission, Essentially Yours, supra n 3, ch. 24.
17} Shickle, supra n. 14, p. 33.
^{18 Lori Andrews and Erin Shaugnessy Zuiker, 'Ethical, Legal, and Social Issues in Genetic}
Testing for Complex Genetic Diseases' (2003) 37 Valparaiso University Law Review 793, p.
^807.

a disease. It can only show some increase in the probability of developing the disease.¹⁹ This information is difficult for many people to interpret.²⁰ Based on pre-disposition test results, individuals might undergo preventive interventions involving risk or inconvenience to them, when they would never have gone on to develop the disease.²¹ A negative test result for a multifactorial disease like cancer could falsely reassure a person about their health,²² because the absence of a mutation predisposing a person to cancer is no guarantee that they will not develop cancer.

Some individuals experience worry and anxiety from participating in a screening programme and having to await the results.²³ Those with positive test results often suffer distress and depression.²⁴ People who are identified as susceptible to multifactorial diseases like cancer may become obsessively worried about the state of their health.²⁵ This phenomenon, known as ‘the worried well’, can lead to increased absenteeism from work and increased feelings of ill health.²⁶ However, several studies have shown that most emotional reactions tend to be short term, and most genetic testing participants do not suffer any long-term decrease in their quality of life.²⁷ Genetic counselling that confers an accurate understanding of the disease, and the risk of getting it, could alleviate some of the adverse psychological reactions people have to genetic test results.²⁸ People who decline to participate in

a disease. It can only show some increase in the probability of developing the disease.¹⁹ This information is difficult for many people to interpret.²⁰ Based on pre-disposition test results, individuals might undergo preventive interventions involving risk or inconvenience to them, when they would never have gone on to develop the disease.²¹ A negative test result for a multifactorial disease like cancer could falsely reassure a person about their health,²² because the absence of a mutation predisposing a person to cancer is no guarantee that they will not develop cancer.

Some individuals experience worry and anxiety from participating in a screening programme and having to await the results.²³ Those with positive test results often suffer distress and depression.²⁴ People who are identified as susceptible to multifactorial diseases like cancer may become obsessively worried about the state of their health.²⁵ This phenomenon, known as ‘the worried well’, can lead to increased absenteeism from work and increased feelings of ill health.²⁶ However, several studies have shown that most emotional reactions tend to be short term, and most genetic testing participants do not suffer any long-term decrease in their quality of life.²⁷ Genetic counselling that confers an accurate understanding of the disease, and the risk of getting it, could alleviate some of the adverse psychological reactions people have to genetic test results.²⁸ People who decline to participate in

¹⁹ Ibid.

^{20 Loane Skene, ‘Patients’ Rights or Family Responsibilities? – Two Approaches to}

Genetic Testing’ (1998) 6 Medical Law Review 1, p. 7.

^{21 National Health Committee, Screening to Improve Health in New Zealand, supra n. 5, p. 10}

²² Alice McEwen and Alice Christian, ‘Circumstances, Pitfalls and Limitations of Genetic

^{Testing’ (Paper presented at the Screening Symposium, Wellington, 2005).}

²³ See British Medical Association, supra n. 11, p. 4.

^{24 Neil Sharpe, 'Reinventing the Wheel? Informed Consent and Genetic Testing for}

Breast Cancer, Cystic Fibrosis and Huntington Disease' (1997) 22 Queen’s Law Journal 389, p. 396.

²⁵ See Lori Andrews, ‘A Conceptual Framework for Genetic Policy: Comparing the Medical, Public Health and Fundamental Rights Models’ (2001) 79 Washington University Law Quarterly 221, p. 242.

^{26 See Wylie Burke et al, ‘Public Health Strategies to Prevent the Complications of}

Hemochromatosis’ in Muin Khoury et al (eds), Genetics and Public Health in the 21st Century

^{(2000) pp. 447, 456.}

²⁷ See Judith Benkendorf, Beth Peshkin and Caryn Lerman, ‘Impact of Genetic Information and Genetic Counseling on Public Health’ in Muin Khoury et al (eds), Genetics and Public Health in the 21^st Century (2000) pp. 361, 376.

^{28 See Burke et al, supra n. 26, p. 456.}

¹⁹ Ibid.
^{20 Loane Skene, ‘Patients’ Rights or Family Responsibilities? – Two Approaches to}
Genetic Testing’ (1998) 6 Medical Law Review 1, p. 7.
^{21 National Health Committee, Screening to Improve Health in New Zealand, supra n. 5, p. 10
22} Alice McEwen and Alice Christian, ‘Circumstances, Pitfalls and Limitations of Genetic
^{Testing’ (Paper presented at the Screening Symposium, Wellington, 2005).
23} See British Medical Association, supra n. 11, p. 4.
^{24 Neil Sharpe, 'Reinventing the Wheel? Informed Consent and Genetic Testing for}
Breast Cancer, Cystic Fibrosis and Huntington Disease' (1997) 22 Queen’s Law Journal 389, p. 396.
²⁵ See Lori Andrews, ‘A Conceptual Framework for Genetic Policy: Comparing the Medical, Public Health and Fundamental Rights Models’ (2001) 79 Washington University Law Quarterly 221, p. 242.
^{26 See Wylie Burke et al, ‘Public Health Strategies to Prevent the Complications of}
Hemochromatosis’ in Muin Khoury et al (eds), Genetics and Public Health in the 21st Century
^{(2000) pp. 447, 456.
27} See Judith Benkendorf, Beth Peshkin and Caryn Lerman, ‘Impact of Genetic Information and Genetic Counseling on Public Health’ in Muin Khoury et al (eds), Genetics and Public Health in the 21^st Century (2000) pp. 361, 376.
^{28 See Burke et al, supra n. 26, p. 456.}

testing experience the highest levels of distress,²⁹ suggesting that knowledge of genetic status is generally better than uncertainty.

The familial nature of genetic information means that when an individual undergoes genetic testing, the psychological effects discussed above can extend to other family members. The stress and anxiety associated with a positive genetic test result can cause conflict in families, especially where some family members have the allele and others do not.³⁰ One person’s genetic screening result may reveal genetic information about other members of their family. Some family members could see this as beneficial, but others might not want to know about their future risk of genetic disease.³¹ There is also a chance that a genetic test might reveal a genetic abnormality other than the one being tested for,³² or other non-medical information, such as paternity.³³ Whether or not this extraneous information should be revealed to the participant is ethically controversial.³⁴

There is widespread concern that people might be discriminated against by insurers and employers because of their genetic susceptibility to disease. Genetic discrimination has happened in the past. For example, African-American carriers of the sickle-cell anaemia allele were discriminated against in the United States in the 1960s and 1970s.³⁵

Genetic screening may cause people to focus on the genetic factors that contribute to multifactorial disease and detract attention from the role of environmental factors.³⁶ This skewed focus may act as a disincentive to taking action to reduce or eliminate environmental factors that

testing experience the highest levels of distress,²⁹ suggesting that knowledge of genetic status is generally better than uncertainty.

The familial nature of genetic information means that when an individual undergoes genetic testing, the psychological effects discussed above can extend to other family members. The stress and anxiety associated with a positive genetic test result can cause conflict in families, especially where some family members have the allele and others do not.³⁰ One person’s genetic screening result may reveal genetic information about other members of their family. Some family members could see this as beneficial, but others might not want to know about their future risk of genetic disease.³¹ There is also a chance that a genetic test might reveal a genetic abnormality other than the one being tested for,³² or other non-medical information, such as paternity.³³ Whether or not this extraneous information should be revealed to the participant is ethically controversial.³⁴

There is widespread concern that people might be discriminated against by insurers and employers because of their genetic susceptibility to disease. Genetic discrimination has happened in the past. For example, African-American carriers of the sickle-cell anaemia allele were discriminated against in the United States in the 1960s and 1970s.³⁵

Genetic screening may cause people to focus on the genetic factors that contribute to multifactorial disease and detract attention from the role of environmental factors.³⁶ This skewed focus may act as a disincentive to taking action to reduce or eliminate environmental factors that

²⁹ Ibid.

³⁰ See Skene, supra n. 21, p. 8.

^{31 See generally Australian Law Reform Commission, Essentially Yours, supra n. 3, ch. 24;}

ASHG and ACMG, supra n. 9, p. 1236.

^{32 Andrews and Zuiker, supra n. 18, pp. 809-810.}

³³ Dorothy Wertz, 'Ethical Issues in Pediatric Genetics: Views of Geneticists, Parents and

^{Primary Care Physicians' (1998) 6 Health Law Journal 3, p. 3.}

³⁴ See, eg, Nuffield Council on Bioethics, supra n. 6, p. 41; Wertz et al Review of Ethical

^{Issues in Medical Genetics, supra n. 6, pp. 48-49; Andrews and Zuiker, supra n. 18, pp. 810.}

³⁵ See Mary Davidson et al, ‘Consumer Perspectives on Genetic Testing: Lessons

^{Learned’ in Muin Khoury et al (eds), Genetics and Public Health in the 21st Century (2000), pp.}

579, 589.

^{36 See Andrews and Zuiker, supra n. 18, pp. 821.}

²⁹ Ibid.
³⁰ See Skene, supra n. 21, p. 8.
^{31 See generally Australian Law Reform Commission, Essentially Yours, supra n. 3, ch. 24;}
ASHG and ACMG, supra n. 9, p. 1236.
^{32 Andrews and Zuiker, supra n. 18, pp. 809-810.
33} Dorothy Wertz, 'Ethical Issues in Pediatric Genetics: Views of Geneticists, Parents and
^{Primary Care Physicians' (1998) 6 Health Law Journal 3, p. 3.
34} See, eg, Nuffield Council on Bioethics, supra n. 6, p. 41; Wertz et al Review of Ethical
^{Issues in Medical Genetics, supra n. 6, pp. 48-49; Andrews and Zuiker, supra n. 18, pp. 810.
35} See Mary Davidson et al, ‘Consumer Perspectives on Genetic Testing: Lessons
^{Learned’ in Muin Khoury et al (eds), Genetics and Public Health in the 21st Century (2000), pp.}
579, 589.
^{36 See Andrews and Zuiker, supra n. 18, pp. 821.}

contribute to disease.³⁷ For example, genetically vulnerable employees might be excluded from hazardous work environments rather than employers being forced to make their workplaces safer,³⁸ which seems unfair and illogical.

Mäori have cultural concerns about the collection and protection of health information, and the use, storage and disposal of body tissue samples.³⁹ If these concerns were to discourage Mäori from participating in future genetic screening programmes, this could increase existing health inequalities between Mäori and other New Zealanders.

While genetic screening programmes have the potential to decrease long-term health costs by preventing disease or reducing its severity, the costs of setting up a programme may place an excessive burden on the health system in the short term.⁴⁰

Genetic screening of minors raises additional concerns. These concerns are important because there is a good chance that future genetic screening programmes will target newborns. The infrastructure for newborn disease screening is already established, and screening newborns would maximise the opportunity for preventive interventions against disease. Minors generally lack legal competence to consent to medical services, so their parents must make the decision for them. This practice is generally seen as acceptable in relation to genetic testing where the disease being tested for manifests during childhood or adolescence, and treatment or preventive measures are available.⁴¹ In

contribute to disease.³⁷ For example, genetically vulnerable employees might be excluded from hazardous work environments rather than employers being forced to make their workplaces safer,³⁸ which seems unfair and illogical.

Mäori have cultural concerns about the collection and protection of health information, and the use, storage and disposal of body tissue samples.³⁹ If these concerns were to discourage Mäori from participating in future genetic screening programmes, this could increase existing health inequalities between Mäori and other New Zealanders.

While genetic screening programmes have the potential to decrease long-term health costs by preventing disease or reducing its severity, the costs of setting up a programme may place an excessive burden on the health system in the short term.⁴⁰

Genetic screening of minors raises additional concerns. These concerns are important because there is a good chance that future genetic screening programmes will target newborns. The infrastructure for newborn disease screening is already established, and screening newborns would maximise the opportunity for preventive interventions against disease. Minors generally lack legal competence to consent to medical services, so their parents must make the decision for them. This practice is generally seen as acceptable in relation to genetic testing where the disease being tested for manifests during childhood or adolescence, and treatment or preventive measures are available.⁴¹ In

³⁷ See, eg, Mairi Levitt, ‘A Sociological Perspective on Genetic Screening’ in Ruth

^{Chadwick et al (eds), The Ethics of Genetic Screening (1999), pp. 157, 162.}

³⁸ See, eg, Richard Sharp, 'The Evolution of Predictive Genetic Testing: Deciphering

^{Gene-Environment Interactions' (2001) 41 Jurimetrics 145, p. 162.}

³⁹ National Health Committee, Molecular Genetic Testing in New Zealand (2003), p. 23.

^{40 Australian Law Reform Commission, Essentially Yours, supra n. 3, ch. 24.}

⁴¹ See, eg, Clarke, supra n. 10, 233; Clinical Genetics Society, The Genetic Testing of Children

^{(1994) http://www.bshg.org.uk/documents/official_docs/testchil.htm at 20 December}

2005; National Health Committee, Molecular Genetic Testing in New Zealand (2003) 24; Wertz et al, Review of Ethical Issues in Medical Genetics, supra n. 6, p. 58; Genetics Interest Group, Genetics Interest Group Response to the Clinical Genetics Society Report "The Genetic Testing of Children" (1995) 3. The Genetics Interest Group would allow testing for child-onset conditions where no treatment or prevention is available because they believe that the benefits associated with knowledge of genetic status justify this. However, it is unlikely

³⁷ See, eg, Mairi Levitt, ‘A Sociological Perspective on Genetic Screening’ in Ruth
^{Chadwick et al (eds), The Ethics of Genetic Screening (1999), pp. 157, 162.
38} See, eg, Richard Sharp, 'The Evolution of Predictive Genetic Testing: Deciphering
^{Gene-Environment Interactions' (2001) 41 Jurimetrics 145, p. 162.
39} National Health Committee, Molecular Genetic Testing in New Zealand (2003), p. 23.
^{40 Australian Law Reform Commission, Essentially Yours, supra n. 3, ch. 24.
41} See, eg, Clarke, supra n. 10, 233; Clinical Genetics Society, The Genetic Testing of Children
^{(1994) http://www.bshg.org.uk/documents/official_docs/testchil.htm at 20 December}
2005; National Health Committee, Molecular Genetic Testing in New Zealand (2003) 24; Wertz et al, Review of Ethical Issues in Medical Genetics, supra n. 6, p. 58; Genetics Interest Group, Genetics Interest Group Response to the Clinical Genetics Society Report "The Genetic Testing of Children" (1995) 3. The Genetics Interest Group would allow testing for child-onset conditions where no treatment or prevention is available because they believe that the benefits associated with knowledge of genetic status justify this. However, it is unlikely

this situation, the results will be of immediate relevance and direct benefit to the child. However, if the disease is unlikely to manifest until adulthood, most commentators believe that the decision whether to participate in testing should be left up to the child when they reach maturity, unless there is potential for immediate intervention to prevent, delay the onset of or decrease the severity of the disease.⁴² The objection to testing children for adult-onset diseases is that it exposes them to risks and abrogates their future rights. Testing for adult-onset diseases during childhood takes away a child’s right to decide whether to be tested, which is seen as a violation of their future autonomy.⁴³

When children are tested, the results are disclosed to their parents, which deprives them of the right to confidentiality that they would have if they were tested as an adult.⁴⁴ By being tested during childhood, children are also deprived of the right to participate in and benefit from genetic counselling at an adult level.⁴⁵ Children are unlikely to be able to adequately understand the implications of undergoing genetic screening, and are unlikely to understand the probabilistic nature of the test results.⁴⁶

If parents find out that their child is at risk for a genetic disease, they might treat them differently, and could restrict their participation in

this situation, the results will be of immediate relevance and direct benefit to the child. However, if the disease is unlikely to manifest until adulthood, most commentators believe that the decision whether to participate in testing should be left up to the child when they reach maturity, unless there is potential for immediate intervention to prevent, delay the onset of or decrease the severity of the disease.⁴² The objection to testing children for adult-onset diseases is that it exposes them to risks and abrogates their future rights. Testing for adult-onset diseases during childhood takes away a child’s right to decide whether to be tested, which is seen as a violation of their future autonomy.⁴³
When children are tested, the results are disclosed to their parents, which deprives them of the right to confidentiality that they would have if they were tested as an adult.⁴⁴ By being tested during childhood, children are also deprived of the right to participate in and benefit from genetic counselling at an adult level.⁴⁵ Children are unlikely to be able to adequately understand the implications of undergoing genetic screening, and are unlikely to understand the probabilistic nature of the test results.⁴⁶

If parents find out that their child is at risk for a genetic disease, they might treat them differently, and could restrict their participation in

that these benefits would justify population genetic screening for conditions with no treatment or preventive strategy.

^{42 See, eg, American Medical Association, Testing Children for Genetic Status (1995) 4; ASHG}

and ACMG, supra n. 9, 1233; Laura Arbour, Guidelines for Genetic Testing of Healthy Children

^{– Canadian Paediatric Society Position Statement (2002)}

http://www.cps.ca/English/statements/B/b03-01.pdf at 30 May 2006, p. 4; Clinical Genetics Society, supra n. 41; Genetics Interest Group, supra n. 41, p. 5; Governo Italiano (National Bioethics Committee), Bioethical Guidelines for Genetic Testing (1999) http://www.governo.it/bioetica/eng/opinions/genetictest.html at 20 December 2005; Human Genetics Commission (UK), Whose Hands on Your Genes? (2000), p. 9; Human Genetics Society of Australasia, Predictive Testing in Children and Adolescents (2005); Meng, supra n. 13, p. 7; National Health Committee, Molecular Genetic Testing in New Zealand, supra n. 39, p. 24; Nuffield Council on Bioethics, supra n 6, 38; Provincial Advisory Committee on New Predictive Genetic Technologies, Genetic Services in Ontario: Mapping the Future (2001), p. 36 Wertz 'Ethical Issues in Pediatric Genetics', supra n. 33, p. 23; Wertz et al, Review of Ethical Issues in Medical Genetics, supra n. 6, p. 59; World Medical Association, Statement on Genetics and Medicine (2005).

⁴³ Wertz, 'Ethical Issues in Pediatric Genetics', supra n. 33, p. 9.

^{44 See, eg, Clinical Genetics Society, supra n. 41, p. 3.}

⁴⁵ Clarke, supra n. 10, p. 234.

^{46 American Medical Association, supra n. 42, p. 2.}

that these benefits would justify population genetic screening for conditions with no treatment or preventive strategy.
^{42 See, eg, American Medical Association, Testing Children for Genetic Status (1995) 4; ASHG}
and ACMG, supra n. 9, 1233; Laura Arbour, Guidelines for Genetic Testing of Healthy Children
^{– Canadian Paediatric Society Position Statement (2002)}
http://www.cps.ca/English/statements/B/b03-01.pdf at 30 May 2006, p. 4; Clinical Genetics Society, supra n. 41; Genetics Interest Group, supra n. 41, p. 5; Governo Italiano (National Bioethics Committee), Bioethical Guidelines for Genetic Testing (1999) http://www.governo.it/bioetica/eng/opinions/genetictest.html at 20 December 2005; Human Genetics Commission (UK), Whose Hands on Your Genes? (2000), p. 9; Human Genetics Society of Australasia, Predictive Testing in Children and Adolescents (2005); Meng, supra n. 13, p. 7; National Health Committee, Molecular Genetic Testing in New Zealand, supra n. 39, p. 24; Nuffield Council on Bioethics, supra n 6, 38; Provincial Advisory Committee on New Predictive Genetic Technologies, Genetic Services in Ontario: Mapping the Future (2001), p. 36 Wertz 'Ethical Issues in Pediatric Genetics', supra n. 33, p. 23; Wertz et al, Review of Ethical Issues in Medical Genetics, supra n. 6, p. 59; World Medical Association, Statement on Genetics and Medicine (2005).
⁴³ Wertz, 'Ethical Issues in Pediatric Genetics', supra n. 33, p. 9.
^{44 See, eg, Clinical Genetics Society, supra n. 41, p. 3.
45} Clarke, supra n. 10, p. 234.
^{46 American Medical Association, supra n. 42, p. 2.}

life.⁴⁷ Knowledge of their risk of developing a genetic disease might damage a child’s self-esteem⁴⁸ and impair their social interaction.⁴⁹ In addition, screening for adult-onset diseases exposes children to the risk of future genetic discrimination by employers and insurers.⁵⁰ Therefore, screening children for genes for adult-onset diseases, especially where no treatment or prevention is available, is unlikely to be acceptable.⁵¹

D: Should New Zealand use Genetic Screening?

At some time in the future New Zealand will have to decide whether and to what extent to utilise genetic screening technology. The substantial health benefits genetic screening could generate, and the possibility of mitigating many of the risks, militate against ruling it out completely. Some method of balancing the numerous and weighty considerations both in favour of and against a particular genetic screening programme will be required. Currently, proposed population disease screening programmes in New Zealand are assessed against a set of criteria developed by the National Health Committee.⁵² The criteria are based on criteria developed by the World Health Organization that underlie screening programmes in most countries.⁵³

The criteria ‘are intended to inform judgment and are not absolute, as no existing or potential screening programme fulfils every criterion entirely.’⁵⁴ Below are the eight criteria and a brief assessment of how well various types of genetic screening fulfil them.

1. The condition is a suitable candidate for screening. The condition must be an important health problem in terms of incidence and prognosis, and be well understood.⁵⁵ This criterion weighs against population screening for rare genetic diseases, genetic conditions that are not serious, and genetic diseases that we currently know little about.

life.⁴⁷ Knowledge of their risk of developing a genetic disease might damage a child’s self-esteem⁴⁸ and impair their social interaction.⁴⁹ In addition, screening for adult-onset diseases exposes children to the risk of future genetic discrimination by employers and insurers.⁵⁰ Therefore, screening children for genes for adult-onset diseases, especially where no treatment or prevention is available, is unlikely to be acceptable.⁵¹

D: Should New Zealand use Genetic Screening?

At some time in the future New Zealand will have to decide whether and to what extent to utilise genetic screening technology. The substantial health benefits genetic screening could generate, and the possibility of mitigating many of the risks, militate against ruling it out completely. Some method of balancing the numerous and weighty considerations both in favour of and against a particular genetic screening programme will be required. Currently, proposed population disease screening programmes in New Zealand are assessed against a set of criteria developed by the National Health Committee.⁵² The criteria are based on criteria developed by the World Health Organization that underlie screening programmes in most countries.⁵³
The criteria ‘are intended to inform judgment and are not absolute, as no existing or potential screening programme fulfils every criterion entirely.’⁵⁴ Below are the eight criteria and a brief assessment of how well various types of genetic screening fulfil them.

1. The condition is a suitable candidate for screening. The condition must be an important health problem in terms of incidence and prognosis, and be well understood.⁵⁵ This criterion weighs against population screening for rare genetic diseases, genetic conditions that are not serious, and genetic diseases that we currently know little about.

⁴⁷ See, e.g., Governo Italiano (National Bioethics Committee), supra n. 42 .

⁴⁸ See, e.g., ASHG and ACMG, supra n. 9, p. 1236; Clinical Genetics Society, supra n. 41, p. 3.

⁴⁹ See Clinical Genetics Society, supra n. 41, p. 3.

^{50 Ibid.}

⁵¹ Although the concerns raised and positions discussed related to genetic testing, they are equally applicable to genetic screening.

⁵² National Health Committee, Screening to Improve Health in New Zealand, supra n. 5, p. 3.

^{53 Ibid., p. 17.}

⁵⁴ Ibid., p. 3.

^{55 Ibid., p. 24.}

⁴⁷ See, e.g., Governo Italiano (National Bioethics Committee), supra n. 42 .
⁴⁸ See, e.g., ASHG and ACMG, supra n. 9, p. 1236; Clinical Genetics Society, supra n. 41, p. 3.
⁴⁹ See Clinical Genetics Society, supra n. 41, p. 3.
^{50 Ibid.
51} Although the concerns raised and positions discussed related to genetic testing, they are equally applicable to genetic screening.
⁵² National Health Committee, Screening to Improve Health in New Zealand, supra n. 5, p. 3.
^{53 Ibid., p. 17.
54} Ibid., p. 3.
^{55 Ibid., p. 24.}

2. There is a suitable test. The safety, simplicity, reliability, and accuracy of the test are relevant considerations.⁵⁶ Genetic tests are generally non- invasive, but, as discussed above, predictive and susceptibility tests are not very informative. It would only be appropriate to screen the population if the test to be used had an acceptable level of informativeness.

3. There is an effective and accessible treatment or intervention for the condition. This criterion would rule out genetic screening for conditions that have no effective treatment or preventive strategy.

4. There is high quality evidence that a screening programme is effective in reducing mortality or morbidity. For most genetic conditions, there is a lack of evidence that genetic screening is effective in reducing mortality or morbidity, as insufficient research has been carried out to date. There is evidence to suggest that susceptibility screening may not be effective in reducing the incidence of multifactorial diseases because many people fail to comply with the recommended lifestyle changes.⁵⁷ More research and pilot programmes would need to be carried out prior to implementing genetic screening programmes to evaluate their effectiveness.

5. The potential benefit from the screening programme should outweigh the potential physical and psychological harm. Our current lack of knowledge about the effects of genetic screening would make it difficult to weigh the potential benefits of a genetic screening programme against its risks. Pilot programmes would help to determine the balance of benefits and harms for a proposed genetic screening programme.

6. The health care system is capable of supporting all necessary elements of the screening pathway. The screening pathway involves identification of the target population, counselling and informed consent, the test itself, the communication and explanation of the results, further diagnostic tests, and treatment or prophylactic

2. There is a suitable test. The safety, simplicity, reliability, and accuracy of the test are relevant considerations.⁵⁶ Genetic tests are generally non- invasive, but, as discussed above, predictive and susceptibility tests are not very informative. It would only be appropriate to screen the population if the test to be used had an acceptable level of informativeness.

3. There is an effective and accessible treatment or intervention for the condition. This criterion would rule out genetic screening for conditions that have no effective treatment or preventive strategy.

4. There is high quality evidence that a screening programme is effective in reducing mortality or morbidity. For most genetic conditions, there is a lack of evidence that genetic screening is effective in reducing mortality or morbidity, as insufficient research has been carried out to date. There is evidence to suggest that susceptibility screening may not be effective in reducing the incidence of multifactorial diseases because many people fail to comply with the recommended lifestyle changes.⁵⁷ More research and pilot programmes would need to be carried out prior to implementing genetic screening programmes to evaluate their effectiveness.

5. The potential benefit from the screening programme should outweigh the potential physical and psychological harm. Our current lack of knowledge about the effects of genetic screening would make it difficult to weigh the potential benefits of a genetic screening programme against its risks. Pilot programmes would help to determine the balance of benefits and harms for a proposed genetic screening programme.

6. The health care system is capable of supporting all necessary elements of the screening pathway. The screening pathway involves identification of the target population, counselling and informed consent, the test itself, the communication and explanation of the results, further diagnostic tests, and treatment or prophylactic

⁵⁶ Ibid.

^{57 See Benkendorf, Peshkin, and Lerman, supra n. 27, p. 375.}

⁵⁶ Ibid.
^{57 See Benkendorf, Peshkin, and Lerman, supra n. 27, p. 375.}

interventions where indicated.⁵⁸ Funding all of these elements would be expensive, and could be unaffordable under New Zealand’s already stretched healthcare budget.

7. There is a consideration of social and ethical issues. Genetic screening raises numerous ethical and social issues, some of which were mentioned above, especially where screening of newborns or children is proposed.

8. There is a consideration of cost-benefit issues. The cost of a screening programme must be justified by the benefits it is expected to bring. A proposed screening programme must be compared with other possible interventions to ensure that it represents the best use of resources.⁵⁹ For rare genetic diseases, testing the extended families of affected individuals is likely to be more cost-effective than population screening.⁶⁰ Strategies aimed at reducing risk for the whole population may turn out to be more cost-effective than genetic screening for multifactorial diseases like diabetes, heart disease and cancer.⁶¹

The deficiencies in our current knowledge about the effects of genetic screening make it difficult to assess whether genetic screening would meet New Zealand’s current screening programme assessment criteria. The criteria do not seem to rule out genetic screening for a disease that is serious, not rare, reasonably well understood, where some form of treatment or intervention is available, and pilot programmes show that screening would be affordable and effective in reducing mortality or morbidity.

The existing NHC criteria would not necessarily have to be used to assess proposed genetic screening programmes. The existing criteria appear to apply to genetic screening as well as they do to disease screening, but refinements and additional criteria might be necessary for genetic screening. For example, it should be made explicit that for

interventions where indicated.⁵⁸ Funding all of these elements would be expensive, and could be unaffordable under New Zealand’s already stretched healthcare budget.

7. There is a consideration of social and ethical issues. Genetic screening raises numerous ethical and social issues, some of which were mentioned above, especially where screening of newborns or children is proposed.

8. There is a consideration of cost-benefit issues. The cost of a screening programme must be justified by the benefits it is expected to bring. A proposed screening programme must be compared with other possible interventions to ensure that it represents the best use of resources.⁵⁹ For rare genetic diseases, testing the extended families of affected individuals is likely to be more cost-effective than population screening.⁶⁰ Strategies aimed at reducing risk for the whole population may turn out to be more cost-effective than genetic screening for multifactorial diseases like diabetes, heart disease and cancer.⁶¹

The deficiencies in our current knowledge about the effects of genetic screening make it difficult to assess whether genetic screening would meet New Zealand’s current screening programme assessment criteria. The criteria do not seem to rule out genetic screening for a disease that is serious, not rare, reasonably well understood, where some form of treatment or intervention is available, and pilot programmes show that screening would be affordable and effective in reducing mortality or morbidity.

The existing NHC criteria would not necessarily have to be used to assess proposed genetic screening programmes. The existing criteria appear to apply to genetic screening as well as they do to disease screening, but refinements and additional criteria might be necessary for genetic screening. For example, it should be made explicit that for

⁵⁸ National Health Committee, Screening to Improve Health in New Zealand, supra n. 5, p. 30.

⁵⁹ Ibid., p. 27.

^{60 Shickle, supra n. 14, p. 24.}

⁶¹ Patricia Baird, ‘Opportunity and Danger: Medical, Ethical and Social Implications of Early DNA Screening for Identification of Genetic Risk of Common Adult-Onset Disorders’ in Bartha Knoppers and Claude Laberge (eds), Genetic Screening: From Newborns to DNA Typing (1990), p. 320.

⁵⁸ National Health Committee, Screening to Improve Health in New Zealand, supra n. 5, p. 30.
⁵⁹ Ibid., p. 27.
^{60 Shickle, supra n. 14, p. 24.
61} Patricia Baird, ‘Opportunity and Danger: Medical, Ethical and Social Implications of Early DNA Screening for Identification of Genetic Risk of Common Adult-Onset Disorders’ in Bartha Knoppers and Claude Laberge (eds), Genetic Screening: From Newborns to DNA Typing (1990), p. 320.

the health system to be capable of supporting all necessary elements of the screening pathway, adequate genetic counselling resources must be available, and a process should be in place for dealing with secondary, unexpected findings such as nonpaternity.⁶²

E: New Zealand regulation relevant to Genetic Screening

If a genetic screening programme or programmes were found to be acceptable for New Zealand, some form of regulation would need to be put in place to ensure that the potential benefits of genetic screening were maximised and the risks minimised. New Zealand has no generic regulatory framework for population screening that could cover genetic screening. Existing New Zealand law that is relevant to genetic screening includes the Code of Health and Disability Services Consumers’ Rights 1996 and the Health Information Privacy Code

1994. The Code of Health and Disability Services Consumers’ Rights makes it essential for informed consent to be obtained before a health service is provided in New Zealand, and sets out some specific information that a participant would be entitled to receive.⁶³ The Code would not require written consent to participate in genetic screening.⁶⁴

The Health Information Privacy Code restricts the disclosure of health information and requires an agency holding health information to take reasonable precautions to protect that information.⁶⁵ Disclosure of health information generally requires the authorisation of the individual, but there are exceptions. Rule 11 (2) (d) allows disclosure of health information without the authorisation of the individual where

‘disclosure is necessary to prevent or lessen a serious and imminent threat to... another individual.’ It is possible that this exception might be used by health agencies to try to justify disclosing genetic risk information to an individual’s family members. However, it is unlikely that the ‘serious and imminent threat’ test would be met by genetic information, because an individual’s genetic information is rarely informative of what a relative’s precise disease risk is. Under the Privacy Act 1993, the privacy rules in the Health Information Privacy

the health system to be capable of supporting all necessary elements of the screening pathway, adequate genetic counselling resources must be available, and a process should be in place for dealing with secondary, unexpected findings such as nonpaternity.⁶²

E: New Zealand regulation relevant to Genetic Screening

If a genetic screening programme or programmes were found to be acceptable for New Zealand, some form of regulation would need to be put in place to ensure that the potential benefits of genetic screening were maximised and the risks minimised. New Zealand has no generic regulatory framework for population screening that could cover genetic screening. Existing New Zealand law that is relevant to genetic screening includes the Code of Health and Disability Services Consumers’ Rights 1996 and the Health Information Privacy Code
1994. The Code of Health and Disability Services Consumers’ Rights makes it essential for informed consent to be obtained before a health service is provided in New Zealand, and sets out some specific information that a participant would be entitled to receive.⁶³ The Code would not require written consent to participate in genetic screening.⁶⁴
The Health Information Privacy Code restricts the disclosure of health information and requires an agency holding health information to take reasonable precautions to protect that information.⁶⁵ Disclosure of health information generally requires the authorisation of the individual, but there are exceptions. Rule 11 (2) (d) allows disclosure of health information without the authorisation of the individual where
‘disclosure is necessary to prevent or lessen a serious and imminent threat to... another individual.’ It is possible that this exception might be used by health agencies to try to justify disclosing genetic risk information to an individual’s family members. However, it is unlikely that the ‘serious and imminent threat’ test would be met by genetic information, because an individual’s genetic information is rarely informative of what a relative’s precise disease risk is. Under the Privacy Act 1993, the privacy rules in the Health Information Privacy

⁶² See Deborah Baird et al, Whose Genes Are They Anyway? (Report from the HRC Conference on Human Genetic Information, Wellington, July 1995), p. 6.

⁶³ The Health and Disability Commissioner Code of Health and Disability Services

^{Consumers' Rights Regulations 1996 , Right 7(1), Right 6.}

⁶⁴ Code of Health and Disability Services Consumers’ Rights, Right 7(6).

^{65 Health Information Privacy Code 1994, Rule 11 and Rule 5.}

⁶² See Deborah Baird et al, Whose Genes Are They Anyway? (Report from the HRC Conference on Human Genetic Information, Wellington, July 1995), p. 6.
⁶³ The Health and Disability Commissioner Code of Health and Disability Services
^{Consumers' Rights Regulations 1996 , Right 7(1), Right 6.
64} Code of Health and Disability Services Consumers’ Rights, Right 7(6).
^{65 Health Information Privacy Code 1994, Rule 11 and Rule 5.}

Code do not create legally enforceable privacy rights.⁶⁶ Thus, if an individual’s privacy is breached, their only available legal redress is to make a complaint to the Privacy Commissioner.⁶⁷

New Zealand’s cervical screening programme has been regulated by the Health Act 1956 since March 2005. New Zealand’s newborn metabolic screening and breast screening programmes are not covered by any specific legislation, but are controlled by the National Screening Unit (NSU). The NSU has put in place quality standards for the breast and cervical cancer screening programmes, which are intended to apply to future screening programmes.⁶⁸ The quality standards are aimed at ensuring equity of access to screening services, safety, efficiency and effectiveness of screening programmes.⁶⁹ Quality assurance activities include developing nationally consistent policy and quality standards and auditing providers against the standards.⁷⁰ Quality and policy standards for the newborn metabolic screening programme are currently being developed.⁷¹

A new Public Health Bill is expected to be introduced to Parliament in

2006 to replace the Health Act 1956.⁷² The creation of a generic regulatory framework for population screening is proposed.⁷³ The Bill has not yet been drafted, but, according to a Ministry of Health Representative, the provision for population screening is likely to be similar to the provision made for the National Cervical Screening Programme (NCSP) in Part 4A of the Health Act 1956.⁷⁴ The Act

Code do not create legally enforceable privacy rights.⁶⁶ Thus, if an individual’s privacy is breached, their only available legal redress is to make a complaint to the Privacy Commissioner.⁶⁷

New Zealand’s cervical screening programme has been regulated by the Health Act 1956 since March 2005. New Zealand’s newborn metabolic screening and breast screening programmes are not covered by any specific legislation, but are controlled by the National Screening Unit (NSU). The NSU has put in place quality standards for the breast and cervical cancer screening programmes, which are intended to apply to future screening programmes.⁶⁸ The quality standards are aimed at ensuring equity of access to screening services, safety, efficiency and effectiveness of screening programmes.⁶⁹ Quality assurance activities include developing nationally consistent policy and quality standards and auditing providers against the standards.⁷⁰ Quality and policy standards for the newborn metabolic screening programme are currently being developed.⁷¹

A new Public Health Bill is expected to be introduced to Parliament in
2006 to replace the Health Act 1956.⁷² The creation of a generic regulatory framework for population screening is proposed.⁷³ The Bill has not yet been drafted, but, according to a Ministry of Health Representative, the provision for population screening is likely to be similar to the provision made for the National Cervical Screening Programme (NCSP) in Part 4A of the Health Act 1956.⁷⁴ The Act

⁶⁶ Privacy Act 1993, section 11. The Health Information Privacy Code was made under section 46 of the Privacy Act.

^{67 Privacy Act 1993, section 67.}

⁶⁸ National Screening Unit, Improving Quality: A Framework for Screening Programmes in New

^{Zealand (2005), p. iii.}

⁶⁹ Ibid., p. 10.

^{70 Ibid., p. 12.}

⁷¹ Ministry of Health, Newborn Metabolic Screening Programme http://www.moh.govt.nz/moh.nsf/wpg_index/About+Newborn+Metabolic+Screening

+Programme at 18 May 2006.

^{72 Ministry of Health, Health Act Review and the Proposed Public Health Bill}

http://www.moh.govt.nz/moh.nsf/wpg_Index/News+and+Issues- Health+Act+review+and+the+proposed+Public+Health+Bill at 28 August 2006

⁷³ Louise Delany, 'Screening and Legislation' (Paper presented at Screening Symposium

^{2005, Wellington, 3-4 October 2005).}

⁷⁴ Email from Andrew Forsyth, Ministry of Health, to Emily Harris, 19 May 2006. Forsyth suggested that it will be at least six months before the Bill is introduced.

⁶⁶ Privacy Act 1993, section 11. The Health Information Privacy Code was made under section 46 of the Privacy Act.
^{67 Privacy Act 1993, section 67.
68} National Screening Unit, Improving Quality: A Framework for Screening Programmes in New
^{Zealand (2005), p. iii.
69} Ibid., p. 10.
^{70 Ibid., p. 12.
71} Ministry of Health, Newborn Metabolic Screening Programme http://www.moh.govt.nz/moh.nsf/wpg_index/About+Newborn+Metabolic+Screening
+Programme at 18 May 2006.
^{72 Ministry of Health, Health Act Review and the Proposed Public Health Bill}
http://www.moh.govt.nz/moh.nsf/wpg_Index/News+and+Issues- Health+Act+review+and+the+proposed+Public+Health+Bill at 28 August 2006
⁷³ Louise Delany, 'Screening and Legislation' (Paper presented at Screening Symposium
^{2005, Wellington, 3-4 October 2005).
74} Email from Andrew Forsyth, Ministry of Health, to Emily Harris, 19 May 2006. Forsyth suggested that it will be at least six months before the Bill is introduced.

states the objectives of the NCSP, which include ‘reducing the incidence and mortality rate of cervical cancer’, informing women about the risks and potential benefits of participation, and improving the quality of the programme by providing for evaluation.⁷⁵ The Act sets out the duties of the NCSP management, which include providing information to participants⁷⁶ and the public.⁷⁷ Disclosure of information that identifies a participant requires the consent of the participant, unless one of the listed exceptions applies. The exceptions mostly relate to disclosure to other health professionals to allow them to provide health services to participants, but access to information for cancer research and statistical purposes is also provided for.⁷⁸

If the Public Health Bill were to include a generic regulatory framework for population screening that were based on the Health Act regulation of cervical screening, it would be insufficient to regulate genetic screening. The quality assurance and information provision requirements, and the restrictions placed on the disclosure of information, apply equally well to genetic screening. However, as discussed above, additional issues such as genetic discrimination, genetic counselling, and complexities associated with the familial nature of genetic information arise in the context of genetic screening. Some guidance on how to provide for these and other additional issues associated with genetic screening can be obtained from examining the regulation of genetic testing and screening in other jurisdictions.

F: International Regulation of Genetic Screening and Testing

Whilst many countries regulate population disease screening, and a number of countries are beginning to regulate the use of genetic tests, legislation aimed specifically at genetic screening is rare.

states the objectives of the NCSP, which include ‘reducing the incidence and mortality rate of cervical cancer’, informing women about the risks and potential benefits of participation, and improving the quality of the programme by providing for evaluation.⁷⁵ The Act sets out the duties of the NCSP management, which include providing information to participants⁷⁶ and the public.⁷⁷ Disclosure of information that identifies a participant requires the consent of the participant, unless one of the listed exceptions applies. The exceptions mostly relate to disclosure to other health professionals to allow them to provide health services to participants, but access to information for cancer research and statistical purposes is also provided for.⁷⁸

If the Public Health Bill were to include a generic regulatory framework for population screening that were based on the Health Act regulation of cervical screening, it would be insufficient to regulate genetic screening. The quality assurance and information provision requirements, and the restrictions placed on the disclosure of information, apply equally well to genetic screening. However, as discussed above, additional issues such as genetic discrimination, genetic counselling, and complexities associated with the familial nature of genetic information arise in the context of genetic screening. Some guidance on how to provide for these and other additional issues associated with genetic screening can be obtained from examining the regulation of genetic testing and screening in other jurisdictions.

F: International Regulation of Genetic Screening and Testing

Whilst many countries regulate population disease screening, and a number of countries are beginning to regulate the use of genetic tests, legislation aimed specifically at genetic screening is rare.

⁷⁵ Health Act 1956, sections 112D (a), (b), (d).

^{76 Health Act 1956, section 112F.}

⁷⁷ Health Act 1956, section 112S.

^{78 Health Act 1956, section 112J.}

⁷⁵ Health Act 1956, sections 112D (a), (b), (d).
^{76 Health Act 1956, section 112F.
77} Health Act 1956, section 112S.
^{78 Health Act 1956, section 112J.}

1. The common law jurisdictions

Like New Zealand, Australia,⁷⁹ the United Kingdom,⁸⁰ the United States⁸¹ and Canada⁸² have bodies that regulate population screening and/or bodies to advise the government on the use of human genetic technology, but no specific legislative regulation of population genetic screening.

In 2002, an Australian Law Reform Commission, Australian Health Ethics Committee and National Health & Medical Research Council report recommended that nationally consistent policies and practices were needed for obtaining informed consent, genetic counselling, and approval of screening tests for genetic screening,⁸³ but, as yet, no regulation has been put in place.

In the United States, a Bill has been introduced that would protect against the discriminatory use of genetic information by insurers and employers.⁸⁴

1. The common law jurisdictions

Like New Zealand, Australia,⁷⁹ the United Kingdom,⁸⁰ the United States⁸¹ and Canada⁸² have bodies that regulate population screening and/or bodies to advise the government on the use of human genetic technology, but no specific legislative regulation of population genetic screening.

In 2002, an Australian Law Reform Commission, Australian Health Ethics Committee and National Health & Medical Research Council report recommended that nationally consistent policies and practices were needed for obtaining informed consent, genetic counselling, and approval of screening tests for genetic screening,⁸³ but, as yet, no regulation has been put in place.

In the United States, a Bill has been introduced that would protect against the discriminatory use of genetic information by insurers and employers.⁸⁴

⁷⁹ The Human Genetics Advisory Committee advises the Australian government on technical, social, ethical and legal implications of human genetic technology (see Human Genetics Advisory Committee. http://www.nhmrc.gov.au/about/committees/hgac/index.htm)

^{80 The Human Genetics Commission is an independent multi-disciplinary group that}

advises the government on ethical, legal, social and economic issues related to human genetics. The National Screening Committee oversees population screening programmes in a similar way to New Zealand’s National Screening Unit. (see Human Genetics Commission, Profiling the Newborn: A Prospective Gene Technology (2005)).

⁸¹ The National Bioethics Advisory Commission, the Secretary’s Advisory Committee on Genetic Testing and the Ethical, Legal and Social Implications Committee of the Human Genome Project all provide advice to the government on aspects of human genetic technology (see OECD, Regulatory Developments in Genetic Testing in the United States http://www.oecd.org/document/47/0,2340,en_2649_201185_2674095_1_1_1_1,00.htm l). Independent professional bodies such as the American Society for Human Genetics and the American College of Medical Genetics produce guidelines and policy statements for the use of genetic testing and screening in clinical practice (see ASHG and ACMG, supra n. 9).

^{82 The Canadian Biotechnology Advisory Committee provides independent advice to the}

government on all aspects of biotechnology (see Canadian Biotechnology Advisory

^{Committee – Home http://cbac-cccb.ca/epic/internet/incbac-cccb.nsf/en/Home).}

⁸³ Australian Law Reform Commission, Essentially Yours, supra n. 3, ch. 24.

^{84 Genetic Information Non-Discrimination Act 2005, section 306 .}

⁷⁹ The Human Genetics Advisory Committee advises the Australian government on technical, social, ethical and legal implications of human genetic technology (see Human Genetics Advisory Committee. http://www.nhmrc.gov.au/about/committees/hgac/index.htm)
^{80 The Human Genetics Commission is an independent multi-disciplinary group that}
advises the government on ethical, legal, social and economic issues related to human genetics. The National Screening Committee oversees population screening programmes in a similar way to New Zealand’s National Screening Unit. (see Human Genetics Commission, Profiling the Newborn: A Prospective Gene Technology (2005)).
⁸¹ The National Bioethics Advisory Commission, the Secretary’s Advisory Committee on Genetic Testing and the Ethical, Legal and Social Implications Committee of the Human Genome Project all provide advice to the government on aspects of human genetic technology (see OECD, Regulatory Developments in Genetic Testing in the United States http://www.oecd.org/document/47/0,2340,en_2649_201185_2674095_1_1_1_1,00.htm l). Independent professional bodies such as the American Society for Human Genetics and the American College of Medical Genetics produce guidelines and policy statements for the use of genetic testing and screening in clinical practice (see ASHG and ACMG, supra n. 9).
^{82 The Canadian Biotechnology Advisory Committee provides independent advice to the}
government on all aspects of biotechnology (see Canadian Biotechnology Advisory
^{Committee – Home http://cbac-cccb.ca/epic/internet/incbac-cccb.nsf/en/Home).
83} Australian Law Reform Commission, Essentially Yours, supra n. 3, ch. 24.
^{84 Genetic Information Non-Discrimination Act 2005, section 306 .}

The Canadian College of Medical Geneticists and Canadian Paediatric Society have produced policy statements and professional guidelines for the provision of genetic services.⁸⁵ Both organisations recommend that children should generally not be tested for adult-onset genetic conditions, and that they should only be tested where some medical intervention is available.⁸⁶

2. Other jurisdictions

Some other jurisdictions have made more specific provision for genetic screening and testing than the common law jurisdictions.

Sweden has a specific law regulating genetic screening. Act (SFS 1991:

114) concerning the use of gene technology in medical screening requires that permission be obtained from the National Board of Health and Welfare to carry out a genetic screening programme.⁸⁷

^{Participation in a genetic screening programme must be voluntary, and}

written consent must be obtained.⁸⁸ Important factors in deciding whether a screening programme is approved are whether the programme has a medically justifiable aim and whether confidentiality of genetic information will be protected.⁸⁹

Austria enacted a Gene Technology Law in 1994, which allows genetic tests to be carried out for medical and research purposes.⁹⁰ Informed consent is a prerequisite of participation.⁹¹ Testing of a minor requires the authorisation of their guardian,⁹² but there is no explicit restriction on what a minor can be tested for.⁹³ Pre- and post-test counselling is

The Canadian College of Medical Geneticists and Canadian Paediatric Society have produced policy statements and professional guidelines for the provision of genetic services.⁸⁵ Both organisations recommend that children should generally not be tested for adult-onset genetic conditions, and that they should only be tested where some medical intervention is available.⁸⁶

2. Other jurisdictions

Some other jurisdictions have made more specific provision for genetic screening and testing than the common law jurisdictions.

Sweden has a specific law regulating genetic screening. Act (SFS 1991:
114) concerning the use of gene technology in medical screening requires that permission be obtained from the National Board of Health and Welfare to carry out a genetic screening programme.^{87
Participation in a genetic screening programme must be voluntary, and}
written consent must be obtained.⁸⁸ Important factors in deciding whether a screening programme is approved are whether the programme has a medically justifiable aim and whether confidentiality of genetic information will be protected.⁸⁹

Austria enacted a Gene Technology Law in 1994, which allows genetic tests to be carried out for medical and research purposes.⁹⁰ Informed consent is a prerequisite of participation.⁹¹ Testing of a minor requires the authorisation of their guardian,⁹² but there is no explicit restriction on what a minor can be tested for.⁹³ Pre- and post-test counselling is

⁸⁵ See, eg, Canadian College of Medical Geneticists, http://ccmg.medical.org/policy.html at 20 January 2006; Laura Arbour (for the Canadian Paediatric Society), supra n. 42.

^{86 Ibid.}

⁸⁷ OECD, Regulatory Developments in Genetic Testing in Sweden http://www.oecd.org/document/13/0,2340,en_2649_201185_2430925_1_1_1_1,00.htm l at 20 January 2006.

^{88 Ibid.}

⁸⁹ Ibid.

^{90 'Austria's Gene Technology Law' (1995) 46 International Digest of Health Legislation 42.}

⁹¹ The Gene Technology Law, secton 65(2).

^{92 Ibid., section 65(4).}

⁹³ Marie Hirtle, 'Children and Genetics: A Comparative Study of International Policy

^{Positions' (1998) 6 Health Law Journal 43, p. 56.}

⁸⁵ See, eg, Canadian College of Medical Geneticists, http://ccmg.medical.org/policy.html at 20 January 2006; Laura Arbour (for the Canadian Paediatric Society), supra n. 42.
^{86 Ibid.
87} OECD, Regulatory Developments in Genetic Testing in Sweden http://www.oecd.org/document/13/0,2340,en_2649_201185_2430925_1_1_1_1,00.htm l at 20 January 2006.
^{88 Ibid.
89} Ibid.
^{90 'Austria's Gene Technology Law' (1995) 46 International Digest of Health Legislation 42.
91} The Gene Technology Law, secton 65(2).
^{92 Ibid., section 65(4).
93} Marie Hirtle, 'Children and Genetics: A Comparative Study of International Policy
^{Positions' (1998) 6 Health Law Journal 43, p. 56.}

required for predisposition testing.⁹⁴ The disclosure of results is prohibited, and there is an express obligation to ensure the confidentiality of data collected.⁹⁵ The law incorporates a mandatory licensing scheme for laboratories undertaking genetic testing.⁹⁶

France’s Law No. 94-653 of 29 July 1994 on respect for the human body states that ‘genetic studies of an individual’s characteristics can only be carried out for medical purposes or scientific research’ and that consent must first be obtained.⁹⁷

Genetic testing in Israel is regulated by the Genetic Information Law.⁹⁸

Under the Law, testing laboratories must be licensed.⁹⁹ Informed consent is a prerequisite to testing.¹⁰⁰ The Law protects the confidentiality of genetic information¹⁰¹ and prohibits genetic discrimination.¹⁰² Children under 16 years of age can only be tested for diagnostic purposes and to ascertain carrier status, and parental consent is required.¹⁰³

In 1998, the Italian Government adopted National Guidelines for Genetic Testing.¹⁰⁴ The requirements include test safety, quality assurance of laboratories, and the informed consent of test participants based on genetic counselling.¹⁰⁵

required for predisposition testing.⁹⁴ The disclosure of results is prohibited, and there is an express obligation to ensure the confidentiality of data collected.⁹⁵ The law incorporates a mandatory licensing scheme for laboratories undertaking genetic testing.⁹⁶

France’s Law No. 94-653 of 29 July 1994 on respect for the human body states that ‘genetic studies of an individual’s characteristics can only be carried out for medical purposes or scientific research’ and that consent must first be obtained.⁹⁷

Genetic testing in Israel is regulated by the Genetic Information Law.⁹⁸
Under the Law, testing laboratories must be licensed.⁹⁹ Informed consent is a prerequisite to testing.¹⁰⁰ The Law protects the confidentiality of genetic information¹⁰¹ and prohibits genetic discrimination.¹⁰² Children under 16 years of age can only be tested for diagnostic purposes and to ascertain carrier status, and parental consent is required.¹⁰³

In 1998, the Italian Government adopted National Guidelines for Genetic Testing.¹⁰⁴ The requirements include test safety, quality assurance of laboratories, and the informed consent of test participants based on genetic counselling.¹⁰⁵

⁹⁴ The Gene Technology Law, section 69.

⁹⁵ The Gene Technology Law, sections 67, 70, 71.

^{96 Ibid., section 68.}

⁹⁷ OECD, Regulatory Developments in Genetic Testing in France http://www.oecd.org/document/16/0,2340,en_2649_201185_2405136_1_1_1_1,00.htm l at 20 January 2006.

^{98 Genetic Information Law 5761-2000,}

http://www.jewishvirtuallibrary.org/jsource/Health/GeneticInformationLaw.pdf> at 30

^{May 2006.}

⁹⁹ Genetic Information Law, section 4.

^{100 Ibid., section 11.}

¹⁰¹ Ibid., section 18.

^{102 Ibid., sections 29, 30.}

¹⁰³ Ibid., section 24.

^{104 Beatrice Godard et al, 'Genetic Screening Programmes: Principles,Techniques,}

Practices and Policies' (2003) 11 European Journal of Human Genetics, S49, S79.

⁹⁴ The Gene Technology Law, section 69.
⁹⁵ The Gene Technology Law, sections 67, 70, 71.
^{96 Ibid., section 68.
97} OECD, Regulatory Developments in Genetic Testing in France http://www.oecd.org/document/16/0,2340,en_2649_201185_2405136_1_1_1_1,00.htm l at 20 January 2006.
^{98 Genetic Information Law 5761-2000,}
http://www.jewishvirtuallibrary.org/jsource/Health/GeneticInformationLaw.pdf> at 30
^{May 2006.
99} Genetic Information Law, section 4.
^{100 Ibid., section 11.
101} Ibid., section 18.
^{102 Ibid., sections 29, 30.
103} Ibid., section 24.
^{104 Beatrice Godard et al, 'Genetic Screening Programmes: Principles,Techniques,}
Practices and Policies' (2003) 11 European Journal of Human Genetics, S49, S79.

The Netherlands’ Population Screening Act 1996 encompasses genetic screening.¹⁰⁶ Central government approval is required before screening programmes can be implemented.¹⁰⁷ For approval to be granted, the potential benefits of the programme must outweigh the risks.¹⁰⁸ It is unlikely that screening for serious, untreatable diseases would be acceptable under the law.¹⁰⁹

Norway’s Law No. 56 of 5 August 1994 on the medical use of biotechnology specifies that ‘genetic tests may only be carried out for medical purposes with diagnostic and/or therapeutic objectives.’¹¹⁰

Tests must be approved for use by the Ministry of Health.¹¹¹ Testing requires written consent, and parent/guardian consent must be obtained to test children under 16 years of age.¹¹² Children under 16 years of age can only undergo pre-symptomatic or pre-disposition testing if a beneficial treatment or preventive intervention is available.¹¹³ Comprehensive counselling is mandatory.¹¹⁴ The law places a prohibition on the use of genetic information by third parties.¹¹⁵

In Switzerland, the Federal Law on the Genetic Testing of Humans was approved by the Swiss parliament in October 2004. The Law allows genetic investigations only for medical purposes.¹¹⁶ Testing labs need government approval.¹¹⁷ Genetic counselling is required before and after pre-symptomatic testing, and the Law specifies a list of things that

The Netherlands’ Population Screening Act 1996 encompasses genetic screening.¹⁰⁶ Central government approval is required before screening programmes can be implemented.¹⁰⁷ For approval to be granted, the potential benefits of the programme must outweigh the risks.¹⁰⁸ It is unlikely that screening for serious, untreatable diseases would be acceptable under the law.¹⁰⁹

Norway’s Law No. 56 of 5 August 1994 on the medical use of biotechnology specifies that ‘genetic tests may only be carried out for medical purposes with diagnostic and/or therapeutic objectives.’¹¹⁰
Tests must be approved for use by the Ministry of Health.¹¹¹ Testing requires written consent, and parent/guardian consent must be obtained to test children under 16 years of age.¹¹² Children under 16 years of age can only undergo pre-symptomatic or pre-disposition testing if a beneficial treatment or preventive intervention is available.¹¹³ Comprehensive counselling is mandatory.¹¹⁴ The law places a prohibition on the use of genetic information by third parties.¹¹⁵

In Switzerland, the Federal Law on the Genetic Testing of Humans was approved by the Swiss parliament in October 2004. The Law allows genetic investigations only for medical purposes.¹¹⁶ Testing labs need government approval.¹¹⁷ Genetic counselling is required before and after pre-symptomatic testing, and the Law specifies a list of things that

¹⁰⁶ Rogeer Hoedemaekers, ‘Genetic Screening in the Netherlands’ in Ruth Chadwick et al

^{(eds), The Ethics of Genetic Screening, pp. 105, 117.}

¹⁰⁷ Ibid.

^{108 Ibid.}

¹⁰⁹ Ibid.

^{110 'Norway Law No. 56 of 5 August 1994 on the Medical Use of Biotechnology' (1995)}

46 International Digest of Health Legislation 51, p. 53.

^{111 Ibid.}

¹¹² Ibid.

^{113 Ibid.}

¹¹⁴ Ibid.

^{115 Ibid.}

¹¹⁶ Federal Office of Justice, Genetic Testing of Humans. http://www.ejpd.admin.ch/ejpd/en/home/themen/gesellschaft/ref_gesetzgebung/ref_ genetische_untersuchungen.html at 29 August 2006.

¹⁰⁶ Rogeer Hoedemaekers, ‘Genetic Screening in the Netherlands’ in Ruth Chadwick et al
^{(eds), The Ethics of Genetic Screening, pp. 105, 117.
107} Ibid.
^{108 Ibid.
109} Ibid.
^{110 'Norway Law No. 56 of 5 August 1994 on the Medical Use of Biotechnology' (1995)}
46 International Digest of Health Legislation 51, p. 53.
^{111 Ibid.
112} Ibid.
^{113 Ibid.
114} Ibid.
^{115 Ibid.
116} Federal Office of Justice, Genetic Testing of Humans. http://www.ejpd.admin.ch/ejpd/en/home/themen/gesellschaft/ref_gesetzgebung/ref_ genetische_untersuchungen.html at 29 August 2006.

must be covered in genetic counselling.¹¹⁸ The Law makes explicit the right to make an informed decision.¹¹⁹ The Law provides protection from genetic discrimination by prohibiting employers from requesting genetic tests or using the results of previous genetic tests except where the job is associated with a risk of occupational illness.¹²⁰ Insurers are prohibited from requesting genetic tests, and from using genetic test results in deciding whether to provide life or disability cover where the level of cover sought is below a threshold.¹²¹

3. Guidance from international bodies

The World Health Organization produced ‘Proposed Ethical Guidelines for Genetic Screening and Testing’ in 2003.¹²² The guidelines state that participation in screening must be voluntary,¹²³ participants must be informed before participating, and given genetic counselling.¹²⁴ Treatment or preventive measures that are likely to benefit participants’ health must be available to justify population screening programmes.¹²⁵ Test results should not be disclosed to third parties without the individual’s consent.¹²⁶ The WHO advises deferring genetic testing of children until adulthood where possible.¹²⁷

UNESCO’s Universal Declaration on Bioethics and Human Rights sets out some general principles that should ‘guide States in the formulation of their legislation, policies or other instruments in the field of bioethics.’¹²⁸ Of particular relevance to genetic screening is the general

must be covered in genetic counselling.¹¹⁸ The Law makes explicit the right to make an informed decision.¹¹⁹ The Law provides protection from genetic discrimination by prohibiting employers from requesting genetic tests or using the results of previous genetic tests except where the job is associated with a risk of occupational illness.¹²⁰ Insurers are prohibited from requesting genetic tests, and from using genetic test results in deciding whether to provide life or disability cover where the level of cover sought is below a threshold.¹²¹

3. Guidance from international bodies

The World Health Organization produced ‘Proposed Ethical Guidelines for Genetic Screening and Testing’ in 2003.¹²² The guidelines state that participation in screening must be voluntary,¹²³ participants must be informed before participating, and given genetic counselling.¹²⁴ Treatment or preventive measures that are likely to benefit participants’ health must be available to justify population screening programmes.¹²⁵ Test results should not be disclosed to third parties without the individual’s consent.¹²⁶ The WHO advises deferring genetic testing of children until adulthood where possible.¹²⁷

UNESCO’s Universal Declaration on Bioethics and Human Rights sets out some general principles that should ‘guide States in the formulation of their legislation, policies or other instruments in the field of bioethics.’¹²⁸ Of particular relevance to genetic screening is the general

¹¹⁸ EuroGentest – National Regulation of Genetic Counselling (2005)

http://www.eurogentest.org/web/info/public/unit3/regulations.xhtml at 29 August

^2006.

¹¹⁹ Munich Re – Switzerland Passes Law on Genetic Testing (2004) http://www.munichre.com/pages/03/biosciences/gentec_news/2004/2004_02_gentec_ news_0007_en.aspx at 29 August 2006.

^{120 Federal Office of Justice, supra n. 116.}

¹²¹ Ibid.

^{122 See Wertz et al, Review of Ethical Issues in Medical Genetics, supra n. 6, p. 42.}

¹²³ Except for newborn screening where early diagnosis and treatment will benefit the newborn, ibid.

¹²⁴ Ibid.

^{125 Ibid., p. 39. Also at p. 46: “It is unethical to screen for disorders that cannot be treated}

or prevented.”

^{126 Ibid., p. 42.}

¹²⁷ Ibid., pp. 59-60.

^{128 UNESCO, Universal Declaration on Bioethics and Human Rights (2005) art. 2.}

¹¹⁸ EuroGentest – National Regulation of Genetic Counselling (2005)
http://www.eurogentest.org/web/info/public/unit3/regulations.xhtml at 29 August
^2006.
119 Munich Re – Switzerland Passes Law on Genetic Testing (2004) http://www.munichre.com/pages/03/biosciences/gentec_news/2004/2004_02_gentec_ news_0007_en.aspx at 29 August 2006.
^{120 Federal Office of Justice, supra n. 116.
121} Ibid.
^{122 See Wertz et al, Review of Ethical Issues in Medical Genetics, supra n. 6, p. 42.
123} Except for newborn screening where early diagnosis and treatment will benefit the newborn, ibid.
¹²⁴ Ibid.
^{125 Ibid., p. 39. Also at p. 46: “It is unethical to screen for disorders that cannot be treated}
or prevented.”
^{126 Ibid., p. 42.
127} Ibid., pp. 59-60.
^{128 UNESCO, Universal Declaration on Bioethics and Human Rights (2005) art. 2.}

requirement for informed consent,¹²⁹ the recommendations for protection of the confidentiality of personal information,¹³⁰ and the recommendations for protection against discrimination and stigmatisation.¹³¹

The World Medical Association Statement on Genetics and Medicine recommends that informed consent should be required for genetic testing, the confidentiality of genetic information should be protected, and laws should be enacted to protect people from genetic discrimination.¹³² Predisposition testing should not be carried out on children unless it will facilitate the earlier instigation of treatment.¹³³

The Council of Europe’s Convention on Human Rights and Biomedicine restricts the use of predictive genetic testing to where it is for health or scientific research purposes.¹³⁴ Informed consent is required for health interventions.¹³⁵ Medical interventions on children must be for their direct benefit, and may only be carried out with parental consent.¹³⁶ The Convention bans genetic discrimination.¹³⁷

The Council for International Organizations of Medical Sciences created the Declaration of Inuyama on Human Genome Mapping, Genetic Screening and Gene Therapy in 1990. According to the Declaration, consent to participate must be truly voluntary, participants should be provided with counselling, and privacy and confidentiality of genetic information should be protected.¹³⁸

requirement for informed consent,¹²⁹ the recommendations for protection of the confidentiality of personal information,¹³⁰ and the recommendations for protection against discrimination and stigmatisation.¹³¹

The World Medical Association Statement on Genetics and Medicine recommends that informed consent should be required for genetic testing, the confidentiality of genetic information should be protected, and laws should be enacted to protect people from genetic discrimination.¹³² Predisposition testing should not be carried out on children unless it will facilitate the earlier instigation of treatment.¹³³

The Council of Europe’s Convention on Human Rights and Biomedicine restricts the use of predictive genetic testing to where it is for health or scientific research purposes.¹³⁴ Informed consent is required for health interventions.¹³⁵ Medical interventions on children must be for their direct benefit, and may only be carried out with parental consent.¹³⁶ The Convention bans genetic discrimination.¹³⁷

The Council for International Organizations of Medical Sciences created the Declaration of Inuyama on Human Genome Mapping, Genetic Screening and Gene Therapy in 1990. According to the Declaration, consent to participate must be truly voluntary, participants should be provided with counselling, and privacy and confidentiality of genetic information should be protected.¹³⁸

¹²⁹ Ibid., art. 6.

¹³⁰ Ibid., art. 9.

^{131 Ibid., art. 11.}

¹³² World Medical Association, Statement on Genetics and Medicine (2005).

^{133 Ibid.}

¹³⁴ Council of Europe, Convention on Human Rights and Biomedicine (1997) art. 12.

^{135 Ibid., art. 5.}

¹³⁶ Ibid., art. 6(1).

^{137 Ibid., art. 11.}

¹³⁸ Council for International Organizations of Medical Sciences, The Declaration of Inuyama

^(1990).

¹²⁹ Ibid., art. 6.
¹³⁰ Ibid., art. 9.
^{131 Ibid., art. 11.
132} World Medical Association, Statement on Genetics and Medicine (2005).
^{133 Ibid.
134} Council of Europe, Convention on Human Rights and Biomedicine (1997) art. 12.
^{135 Ibid., art. 5.
136} Ibid., art. 6(1).
^{137 Ibid., art. 11.
138} Council for International Organizations of Medical Sciences, The Declaration of Inuyama
^(1990).

4. Summary and analysis of international guidance in relation to

New Zealand’s existing regulation

An analysis of the regulation of genetic testing and screening in other jurisdictions, and the recommendations made by international bodies, reveals several common features. Features that have been considered important enough to be included in regulatory instruments in multiple jurisdictions are likely to also be relevant in the regulation of genetic screening in New Zealand. Most of the legislation examined above is directed at genetic testing, but the general principles appear to apply equally well to population genetic screening.

Informed consent is universally required. Informed consent would undoubtedly be a prerequisite of participation in genetic screening in New Zealand under the Code of Health and Disability Services Consumers’ Rights.¹³⁹

The jurisdictions that have established comprehensive regulatory regimes for genetic testing all require the provision of genetic counselling. In the context of genetic testing and screening, ‘informed consent’ and ‘genetic counselling’ have some overlap. The term ‘genetic counselling’ can be used to refer to the provision of information prior to participation to allow the individual to make an informed decision (pre-test counselling), and also to the communication and explanation of results after the test (post-test counselling). It may be desirable to prescribe the precise information provision requirements for informed consent and genetic counselling in legislation or professional guidelines, to ensure consistency and a high standard of counselling.

The regulation of genetic screening in other jurisdictions and by international bodies recognises the importance of the confidentiality of genetic information to participants by prohibiting or placing strong restrictions on the disclosure of genetic information. The prohibition or restriction of disclosure of genetic test results would serve to prevent genetic discrimination. In New Zealand, the Health Information Privacy Code provides some protection for health information, but

4. Summary and analysis of international guidance in relation to

New Zealand’s existing regulation

An analysis of the regulation of genetic testing and screening in other jurisdictions, and the recommendations made by international bodies, reveals several common features. Features that have been considered important enough to be included in regulatory instruments in multiple jurisdictions are likely to also be relevant in the regulation of genetic screening in New Zealand. Most of the legislation examined above is directed at genetic testing, but the general principles appear to apply equally well to population genetic screening.

Informed consent is universally required. Informed consent would undoubtedly be a prerequisite of participation in genetic screening in New Zealand under the Code of Health and Disability Services Consumers’ Rights.¹³⁹

The jurisdictions that have established comprehensive regulatory regimes for genetic testing all require the provision of genetic counselling. In the context of genetic testing and screening, ‘informed consent’ and ‘genetic counselling’ have some overlap. The term ‘genetic counselling’ can be used to refer to the provision of information prior to participation to allow the individual to make an informed decision (pre-test counselling), and also to the communication and explanation of results after the test (post-test counselling). It may be desirable to prescribe the precise information provision requirements for informed consent and genetic counselling in legislation or professional guidelines, to ensure consistency and a high standard of counselling.

The regulation of genetic screening in other jurisdictions and by international bodies recognises the importance of the confidentiality of genetic information to participants by prohibiting or placing strong restrictions on the disclosure of genetic information. The prohibition or restriction of disclosure of genetic test results would serve to prevent genetic discrimination. In New Zealand, the Health Information Privacy Code provides some protection for health information, but

¹³⁹ The Health and Disability Commissioner Code of Health and Disability Services

^{Consumers' Rights Regulations 1996 , Right 7(1).}

¹³⁹ The Health and Disability Commissioner Code of Health and Disability Services
^{Consumers' Rights Regulations 1996 , Right 7(1).}

there is a risk, albeit small, that the exceptions allowing disclosure might be abused, as discussed above

Some regulation restricts the purposes for which genetic screening or testing can be carried out to medical and scientific purposes. This would prevent insurers and employers from requiring prospective policyholders or employees to undergo genetic screening. Such a restriction is desirable as an extra layer of protection against genetic discrimination.

Several jurisdictions explicitly restrict genetic screening or testing to where treatment or preventive interventions are available. Under the National Health Committee Criteria to Assess Screening Programmes¹⁴⁰ this would also be the position in New Zealand.

Most of the jurisdictions that have comprehensive regulatory regimes for genetic testing require the licensing or accreditation of laboratories that carry out the testing. While there is no formal process of approval for genetic tests before they are able to be used in New Zealand,¹⁴¹ all publicly funded clinical laboratories in New Zealand must be accredited by International Accreditation New Zealand.¹⁴²

Positions on the genetic testing and screening of minors vary.¹⁴³ As discussed above, the predominant view of commentators is that children should not be tested or screened for genetic conditions unless something beneficial can be done. If nothing can be done, and the disease will not manifest until adulthood, there is a strong ethical argument that minors should be able to decide whether they want to participate in screening when they reach maturity, so that their future autonomy and rights are protected. More consideration of the position of minors is needed. It may be that regulation expressly restricting genetic screening of minors is unnecessary, because the criteria for assessing a proposed screening programme should only approve a

there is a risk, albeit small, that the exceptions allowing disclosure might be abused, as discussed above

Some regulation restricts the purposes for which genetic screening or testing can be carried out to medical and scientific purposes. This would prevent insurers and employers from requiring prospective policyholders or employees to undergo genetic screening. Such a restriction is desirable as an extra layer of protection against genetic discrimination.

Several jurisdictions explicitly restrict genetic screening or testing to where treatment or preventive interventions are available. Under the National Health Committee Criteria to Assess Screening Programmes¹⁴⁰ this would also be the position in New Zealand.

Most of the jurisdictions that have comprehensive regulatory regimes for genetic testing require the licensing or accreditation of laboratories that carry out the testing. While there is no formal process of approval for genetic tests before they are able to be used in New Zealand,¹⁴¹ all publicly funded clinical laboratories in New Zealand must be accredited by International Accreditation New Zealand.¹⁴²

Positions on the genetic testing and screening of minors vary.¹⁴³ As discussed above, the predominant view of commentators is that children should not be tested or screened for genetic conditions unless something beneficial can be done. If nothing can be done, and the disease will not manifest until adulthood, there is a strong ethical argument that minors should be able to decide whether they want to participate in screening when they reach maturity, so that their future autonomy and rights are protected. More consideration of the position of minors is needed. It may be that regulation expressly restricting genetic screening of minors is unnecessary, because the criteria for assessing a proposed screening programme should only approve a

¹⁴⁰ See criterion 3 in the National Health Committee criteria, supra n. 5, p. 3.

^{141 Diana Sarfati, Some Practical Aspects of Genetic Testing in New Zealand: A Report for the}

National Health Committee (2002), p. 8.

^{142 Ibid., p. 13.}

¹⁴³ See discussion supra under “The Risks Associated with Population Genetic

^{Screening”.}

¹⁴⁰ See criterion 3 in the National Health Committee criteria, supra n. 5, p. 3.
^{141 Diana Sarfati, Some Practical Aspects of Genetic Testing in New Zealand: A Report for the}
National Health Committee (2002), p. 8.
^{142 Ibid., p. 13.
143} See discussion supra under “The Risks Associated with Population Genetic
^{Screening”.}

genetic screening programme where the benefits clearly outweigh the harms.

Conclusion: The Future Of Genetic Screening In New Zealand

Analysis of the regulation of genetic screening and testing in other jurisdictions revealed a trend toward creating a broad regulatory regime containing generic requirements that could apply to many different genetic tests or screening programmes. This approach is preferable to regulating each screening programme separately as New Zealand currently does for our disease screening programmes, because it would be more efficient and would promote the development of forward- looking policies that could be applied and adapted to new technologies as they arose.¹⁴⁴ Strong central regulation is preferable to weaker guidance with room for self-regulation, as a lack of strong central regulation for New Zealand’s disease screening programmes in the past led to low quality screening in some locations.¹⁴⁵ The development of a generic regulatory framework for genetic screening would have the added benefit of providing the best opportunities for public debate and participation.¹⁴⁶ If particular screening programmes had specific requirements, these could be dealt with by regulation additional to the main generic framework.

Comparison of New Zealand’s regulation of disease screening and other law relevant to genetic screening, with regulation of genetic screening and testing in other jurisdictions, identifies several key elements that would need to be included in genetic screening regulation in New Zealand. Provision of genetic counselling for pre-symptomatic and pre-disposition screening would need to be made mandatory, and minimum requirements for counselling specified. Insurers and employers should be prohibited from requiring people to undergo pre- symptomatic and pre-dispositional screening. Whether insurers or employers should be able to utilise the results of genetic tests carried out for medical purposes requires further consideration.

genetic screening programme where the benefits clearly outweigh the harms.

Conclusion: The Future Of Genetic Screening In New Zealand

Analysis of the regulation of genetic screening and testing in other jurisdictions revealed a trend toward creating a broad regulatory regime containing generic requirements that could apply to many different genetic tests or screening programmes. This approach is preferable to regulating each screening programme separately as New Zealand currently does for our disease screening programmes, because it would be more efficient and would promote the development of forward- looking policies that could be applied and adapted to new technologies as they arose.¹⁴⁴ Strong central regulation is preferable to weaker guidance with room for self-regulation, as a lack of strong central regulation for New Zealand’s disease screening programmes in the past led to low quality screening in some locations.¹⁴⁵ The development of a generic regulatory framework for genetic screening would have the added benefit of providing the best opportunities for public debate and participation.¹⁴⁶ If particular screening programmes had specific requirements, these could be dealt with by regulation additional to the main generic framework.

Comparison of New Zealand’s regulation of disease screening and other law relevant to genetic screening, with regulation of genetic screening and testing in other jurisdictions, identifies several key elements that would need to be included in genetic screening regulation in New Zealand. Provision of genetic counselling for pre-symptomatic and pre-disposition screening would need to be made mandatory, and minimum requirements for counselling specified. Insurers and employers should be prohibited from requiring people to undergo pre- symptomatic and pre-dispositional screening. Whether insurers or employers should be able to utilise the results of genetic tests carried out for medical purposes requires further consideration.

¹⁴⁴ See: Andrews, 'Conceptual Framework for Genetic Policy' supra n. 25, pp. 227-228.

¹⁴⁵ See, e.g., National Screening Unit, Improving Quality, supra n. 68, p. 8.

^{146 Ibid.}

¹⁴⁴ See: Andrews, 'Conceptual Framework for Genetic Policy' supra n. 25, pp. 227-228.
¹⁴⁵ See, e.g., National Screening Unit, Improving Quality, supra n. 68, p. 8.
^{146 Ibid.}

The existing NHC criteria for assessing proposed screening programmes should be utilised for genetic screening with the modifications suggested above regarding genetic counselling and secondary findings. These criteria should provide sufficient protection to prevent screening of children or adults for serious, untreatable diseases. However, it may be seen as desirable by the public to explicitly prohibit such screening. Informed consent and confidentiality of genetic information are already covered to some extent by New Zealand’s Code of Health and Disability Services Consumers’ Rights and Health Information Privacy Code respectively. To improve the existing protection, genetic screening regulation should specify that informed consent must be in writing. There should be a provision to the effect that the Rule 11(2)(d) exception in the Health Information Privacy Code does not authorise disclosure of information about an individual’s genetic status to his or her family members, and sanctions should be put in place for breaches of the Code.

Genetic screening holds the potential to improve the health of our nation. However, the risks associated with genetic screening are currently uncertain and the costs difficult to quantify. Now is the time to carry out further research into the effects of genetic screening to allow New Zealand to approach the regulation of genetic screening armed with full information. In this way, the introduction of genetic screening programmes in the future can be managed to provide maximal benefits with minimal risks for all New Zealanders, so that prevention really is better than cure.

The existing NHC criteria for assessing proposed screening programmes should be utilised for genetic screening with the modifications suggested above regarding genetic counselling and secondary findings. These criteria should provide sufficient protection to prevent screening of children or adults for serious, untreatable diseases. However, it may be seen as desirable by the public to explicitly prohibit such screening. Informed consent and confidentiality of genetic information are already covered to some extent by New Zealand’s Code of Health and Disability Services Consumers’ Rights and Health Information Privacy Code respectively. To improve the existing protection, genetic screening regulation should specify that informed consent must be in writing. There should be a provision to the effect that the Rule 11(2)(d) exception in the Health Information Privacy Code does not authorise disclosure of information about an individual’s genetic status to his or her family members, and sanctions should be put in place for breaches of the Code.

Genetic screening holds the potential to improve the health of our nation. However, the risks associated with genetic screening are currently uncertain and the costs difficult to quantify. Now is the time to carry out further research into the effects of genetic screening to allow New Zealand to approach the regulation of genetic screening armed with full information. In this way, the introduction of genetic screening programmes in the future can be managed to provide maximal benefits with minimal risks for all New Zealanders, so that prevention really is better than cure.