Murray, Thomas --- "Essentially Yours: a Review" [2003] ALRCRefJl 25; (2003) 83 Australian Law Reform Commission Reform Journal 47

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Reform Issue 83 Spring 2003

This article appeared on pages 47 – 50 of the original journal.

Essentially Yours: A review

By Dr Thomas H Murray*

Long, long ago, in the infancy of the Human Genome Project—that is, in the early 1990s—people began to ask who might be interested in the avalanche of genetic information expected to follow. Individuals, certainly, would want to know whether their genes might betray them. That assumption turned out not to be universally true—many people at risk of Huntington’s Disease decided that they preferred a life of hopeful uncertainty to one with a 50-50 chance of a dire near-certainty. Who else might have an interest in knowing the intimate details coiled within one’s chromosomes?

As a member of the US Human Genome Project’s first Ethical, Legal and Social Issues Working Group—ELSI for short—I mulled over this very question and listened to a great many thoughtful people, experts and concerned citizens, describe their hopes and fears. The most frequent and urgent worry, we quickly learned, was that third parties for whom the individual’s well being was not the primary concern would seek genetic information and use it for their own purposes. Insurers and employers came most readily to mind as the likely villains.

Scientists distinguish between those stretches of our genomes that are biologically active—so-called coding and regulatory regions—and those much more plentiful regions that have no currently known biological function. Interestingly, both the biologically active and the inactive portions of the genome have provoked concern. Insurers and employers would be curious about the former, that is, about potentially prophetic genes that might foretell, however dimly and uncertainly, what diseases we may develop that would shorten our lives or send us to physicians and hospitals. The acolytes of genetic prophecy often fail to mention how cloudy and uncertain these predictions are in practice—more about that later.

Why would anyone be interested in genetic information that is, by definition, biologically meaningless? Only because it can become swept up in the human dramas of blood, family and betrayal, money, lust and love. That’s why.

For you see, from that meaningless mass of so-called ‘junk’ DNA, scientists have cobbled together sets of signposts that yield a genetic ‘fingerprint’—a distinctive genetic signature that can be used to determine who was the source of whatever DNA is at hand. Forensic scientists use DNA fingerprinting to link suspects to crimes such as sexual assaults. The most massive matching task undertaken thus far with DNA fingerprinting is the effort to identify the remains, often in the form of tiny, severely damaged fragments, of the people killed in New York City’s World Trade Towers on 11 September 2001. Matches can be made even in cases in which we have no DNA samples from the missing individual if there are surviving biological relatives—parents or children, for example.

Because we share half of our genes with each of our biological parents as well as our children, we can often tell with reasonable certainty whether two people are genetically related. Billboards spotted in the US asked in the form of a telephone number an awkward and potentially painful question: ‘1-800-WHO’STHEDAD?’ DNA fingerprinting has become a frequent—and at times grievously destructive—tool in legal battles over divorce settlements and child support. Those same DNA fingerprints can show up in disputes over inheritance rights to estates, immigration cases, and, in a painful reminder of the legacy of American slavery, whether descendants of Sally Hemmings, a slave owned by Thomas Jefferson, ought to be admitted to membership in an association of Jefferson’s descendants.

Australians are now wrestling with how, if at all, to use genetic information of this sort to help decide whether someone should be given the status of Aboriginal or Torres Strait Islander. This turns out to be much more complicated scientifically, politically, and symbolically than deciding whether two people are related.

The Australian Law Reform Commission (ALRC) working with the Australian Health Ethics Committee (AHEC) of the National Health and Medical Research Council, deals with all of these questions (except for the Jefferson descendants dispute) and many more in its report, Essentially Yours: The Protection of Human Genetic Information in Australia (ALRC 96). The two-volume report is encyclopaedic in its coverage of the issues raised by genetic information, and nearly encyclopaedic in its heft, running to more than 1,100 pages. It explains what genetic testing is, how it is regulated, how genetic samples and information are gathered and used in health care and research, and why they are collected and stored in databases and tissue repositories. A US Presidential bioethics commission, on which I served in the late 1990s, wondered how many specimens of human biological materials potentially useful for genetic research there were. A quick survey uncovered more than 280 million such specimens in the US alone, with the number growing by millions each year.

Quite a few national, international and professional bodies have bitten off small chunks of the massive challenge that is genetic information and have issued reports of variable usefulness and merit. I know of no notable body that has attempted to cover it all within a single report. Despite the difficulties the quest for comprehensiveness must have posed, the ALRC and AHEC have done an extraordinarily fine job of explaining the science, identifying what is important for the people of Australia, and offering sensible advice. They have advice, it should be noted, for many parties, not only for those who make and interpret the laws. The report offers recommendations for professional bodies, industry trade associations and governmental advisory committees as well. Consider a few highlights from the sections regarding discrimination in insurance and employment.

The use of genetic information in health insurance worried people in the US much more than genetic information’s impact on any other type of insurance. Among prosperous nations, only the US fails to provide some basic form of health insurance system for all its citizens. Insurance is a method for spreading risks for losses uncertain in their timing, magnitude, or both. Some losses are uncertain both as to whether and when they occur: I may get cancer and it may kill. But no one, least of all me, knows if I will ever get cancer. Other risks are uncertain only as to their timing: I will die, I just don’t know when. The latter uncertainty is the rationale behind life insurance. The former pair of uncertainties underlies health, disability income, trauma, sickness and accident, and, to a degree, travel insurance.

ALRC 96 does not single out health insurance, I assume because the Catch-22 at the heart of insurance does not provoke the same moral unease in Australia as it does in the US given the stark difference in access to basic health care in the two countries. Instead, the report focusses on features that all forms of insurance that might want to consider genetic information have in common. This approach has its advantages. After all, the same company may sell different insurance products, the laws governing discrimination and privacy apply broadly across types of insurance, and the mechanics of evaluating and rating applications for insurance are similar whether someone is trying to purchase life, disability income, or other policies. The disadvantage of this approach is that it obscures the differences in what one might call the moral purposes of the different kinds of insurance.

Disability income insurance, for example, can spare a family from the financial devastation that would otherwise result from a disability that prevents the insured from earning a living. Bad enough that the individual and his or her family has to learn to deal with disability and its economic and social consequences; with disability income insurance, at least a portion of the individual’s salary is replaced. Term life insurance can serve multiple functions, but the most morally compelling one is throwing a financial lifeline to one’s survivors. Attending to these moral purposes illuminates the anxiety provoked by hints that insurance companies are using or might want to use genetic information. Despite the report’s glossing over such moral matters, the careful evaluation of evidence, the sound and thoughtful analysis of arguments and alternatives, and the sage recommendations that run throughout the report show that not much was lost in the approach chosen by the authors. Then again, this would not be much of a review if it could find nothing at all to complain about.

So far, insurers have made little use of genetic information per se. They have long used family history to evaluate the risks an applicant may have. The record of an applicant’s family’s encounters with disease and early death reflects in some measure the applicant’s inherited risks. ALRC 96 recognises this and discusses it with intelligence and sensitivity. According to information collected during a two-year survey running from 30 November 2000 to 30 November 2002, 235 applications received by life insurance companies in Australia contained genetic information. In the calendar year 2001, those same companies issued 1.23 million new policies. This paltry number—235—might seem inconsequential unless, that is, you were one of the 58 who received a policy with other than standard terms, one of the 26 whose applications were deferred, or—especially—one of the 29 who were declined, when this may feel very consequential indeed. Genetic information was identified explicitly as the cause for the adverse decision in 24 per cent of the cases.

Critics of the use of genetic information in insurance warn that such information may be misunderstood. Genetics has not received much attention in the training of physicians other than specialists in medical genetics, so odds are that the medical directors of insurance companies may be at sea when a report of an abnormal genetic result is thrust upon them. Likewise, given the relative newness of most genetic tests, it would be difficult or impossible to have valid actuarial data on their significance for medical underwriting. Aware of the possibilities that genetic information may be misinterpreted, the report recommends that the proposed Human Genetics Commission of Australia (HGCA) should assess those genetic tests used in insurance underwriting, particularly their scientific reliability and actuarial relevance, and that industry codes should ensure that insurers use genetic test information only in accordance with the HGCA’s recommendations.

What is the magnitude of the problem of genetic discrimination in insurance? The ALRC and AHEC do a commendable job in weighing the evidence, which remains primarily anecdotal. On the one hand, the relatively small number of cases, some of them not unambiguously clear cases of wrongful discrimination, suggests that the phenomenon might be rare at this time. On the other hand, insurers’ standard practices of risk rating and the rapidly increasing supply of genetic information lead to the conclusion that it will become commonplace in the near future. What then should be the public policy response?

ALRC 96 takes a firm stand and argues for it sensibly. First, the report notes: ‘Although insurance can provide insureds and their families with significant financial support in adverse circumstances, private insurers should not be expected to provide a social safety net for Australians regardless of their genetic status—that function is more appropriately performed by the social security system and the public health system.’¹ It goes on to note that ‘Australians do not appear to regard private insurance of the kind presently in question as an essential good’.² The reference here is primarily to life insurance, and not at all to health insurance—a point of particular significance to readers in countries without universal access to health insurance such as the US. Then further: ‘Giving more favourable underwriting treatment to applicants because of the genetic [my emphasis] basis of their disease creates an arbitrary distinction between individuals according to the source of their ill-health or disability.’³

With this last claim, the ALRC and AHEC reject the notion of ‘genetic exceptionalism’—in their words again, ‘the idea that genetic information is so fundamentally different from, and more powerful than, all other forms of personal health information that it requires different and higher levels of legal protection’.⁴ This is, in my view, the single most courageous and wise judgment in the report. Genetic information remains mysterious and threatening to many. Our judgment is easily skewed by its novelty and our suspicions of its occult powers. Yes, genetic information can be misused either through misunderstanding or malevolence. ALRC 96 offers cogent and thorough recommendations to guard against both. In its thoroughness, its candor, and its analytic depth Essentially Yours: The Protection of Human Genetic Information in Australia sets the standard for advice to the public and policy makers on how to understand and protect genetic information.

* Thomas H Murray, Ph D, is President of The Hastings Center in Garrison, New York, USA.

The Hastings Center is an independent, non-partisan, and non-profit bioethics research institute founded in 1969 to explore fundamental and emerging questions in health care, biotechnology, and the environment.

Endnotes

1. Australian Law Reform Commission and Australian Health Ethics Committee, Essentially Yours: The Protection of Human Genetic Information in Australia, ALRC 96 (2003), ALRC, Sydney, para 26.96.

2. Ibid, para 26.97.

3. Ibid, para 26.100.

4. Ibid.