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Direct to Consumer Genetic Testing: When Rights Clash

14 August 2006
By Dr Carol Isaacson Barash
PhD, Founder and Principal of Genetics, Ethics & Policy Consulting, USA; cbarash@gepci.com.
Appeared in BioNews 371
Consumers' ability to obtain laboratory test services directly and without a medical order is increasing. Is this a good thing?

Direct to consumer, otherwise known as direct access, clinical testing has been permitted for many years in some, but not in all states within the US. This disparity suggests that at the policy level, regulatory opinion about whether consumers should be permitted to obtain laboratory test services without a medical order is divided. The increased availability of genetic tests coupled with Internet based commerce makes a thoughtful resolution of ethical concerns about whether consumers ought to be able access genetic testing services, in some cases without a medical order, timely and highly significant. While several national bodies have addressed particular regulatory issues involved in direct to consumer genetic testing (1), none have directly addressed the core policy question of whether and, if so, when and why consumers ought to have direct access to genetic testing services.

There are roughly 1,000 genetic tests available in the US, with scores of others in development. Nearly all of these are available only through mainstream medical establishments, have diagnostic or clinically valid significance and are interpreted by geneticists and genetic counsellors. The $6 billion dollar genetic testing and molecular diagnostic industry is almost certain to explode in coming decades. Given ethical concerns about the ownership and privacy of genetic information generated by such tests, and the likely growth in consumer appetite for personal genetic knowledge, the time is ripe to distinguish scientific from ethical concerns and clearly frame the policy debate. This article attempts to flesh out core concerns.   

A number of economic, regulatory and social factors are converging to increase the likelihood that consumers will be able to access genetic testing services without a medical order. Among these are the under supply of genetics specialists (steady declines in the number of physicians training to become clinical geneticists and dearth of trained genetic counsellors and nurses), fiscal shift in health care burdens from insurers to consumers who are increasingly paying more out of pocket for care, and increased state permission for direct access testing (2). While the federal government has the authority to regulate various aspects of genetic testing (including but not limited to molecular diagnostics), such as laboratory practices (3), advertising and marketing claims (4) and diagnostic kits, kit components that are sold independent of kits and analyte specific reagents (ASRs) or test components used to identify specific analytes (5), it has to date not required pre-market approval of a genetic test's clinical validity (6). In doing so, it has arguably deferred regulatory authority to the states permitting each to determine for itself the proper balancing of individual's right to autonomy against the state's right to protect the public. This puts the question of direct to consumer gene testing in a realm similar to state debates over  seat belt requirements (7), newborn screening (8), banning smoking in public, restricting or not-restricting elderly drivers, raising or lowering the legal drinking age, motor-cycle helmet wearing, and even over the counter HIV (human immunodeficiency virus) testing (9).  

With Internet commerce booming, consumer hunger for health related information increasing, and uncertainties arising from the current patchwork of federal and state laws regarding the practice of medicine over the internet,  it is not surprising that as new genetic knowledge becomes available companies will want to develop tests and sell them to a public eager to learn something about their own genetic makeup, particularly if they feel they can benefit from such knowledge by making behavioural changes that will improve their quality of life. 

With concern about genetic privacy great enough to warrant all 50 states adopting some form of genetic privacy legislation, as well as to prompt a Presidential order to ban genetic discrimination in the federal workforce, the right to buy and control one's own genetic information would seem strongly justified on ethical grounds, particularly in a culture that prizes autonomy. Particularly in the US where, not withstanding anti-discrimination rules, that third party access to an individual's genetic test result could nevertheless result in insurance or employment exclusions to the individual or even their unaffected family members, some consumers are so concerned about confidentiality that they prefer not to be tested through their own doctors who will put test results into their medical record and thus potentially into the hands of a third party who could deny benefits. Direct to consumer testing affords, then, the opportunity to maintain control of one's genetic information.  

There is little doubt that consumers want to know about their genotype. Just last week, a New York Times science writer said that if a genetic test for type 2 diabetes were available, she'd want the test, even though she's not sure what she'd do with the results or whether they they'd mean anything for her future. Regardless, she wants the right to get the information and decide for herself whether to act on it. Her sentiments mirror recent consumer behaviour and results from a Harris poll. Four companies investigated by the US Government Accountability Office (GAO) reported that they've each sold several thousand nutrigenetic tests over the past couple of years, with tests selling anywhere from  $95 to $495. A 2002 Harris poll predicted such consumption, having found that 81 per cent adults think genetic testing is beneficial and that they would want to take a multiplex test even if there was no way to prevent or treat conditions or risks identified. Results also showed that people were both willing to pay hundreds of dollars for tests ($314), and notably wary of government regulations. 

Are direct to consumer genetic tests dangerous? When should the government intercede on our behalf to protect us from harm? In framing the policy debate it is important to separate the accuracy of such tests from questions of their usefulness. Furthermore, the relative weights policy makers assign to the uncertainties involved should be contextualized to the continuum that spans critically important uncertainties pertaining to life or death matters to uncertainties that have little or no clinical relevance.

Clearly genetic tests, like consumers, are not all the same. Companies selling direct to consumer are offering a broad spectrum of tests, from ancestry testing to paternity to pre-natal sex-determination to pre-dispositional heritable breast cancer testing. Consumers purchasing such tests likely vary in their ability to consent, comprehend and make good use of test results. For this reason, some companies qualify purchasers and refer those they feel would benefit from professional assistance either in comprehending the testing process or handling test results. Policy makers need to treat genetic tests according to their accuracy, their usefulness to consumers and how important the level of uncertainty is. The clinical significance of ancestry testing is clearly different from that of heritable breast cancer risk testing, unless or until an ancestral variant is also associated with a significant disease risk. State regulators have arguably taken these differences into account in determining whether or not to permit direct access to a particular clinical test or not. Any federal or international policy would be well advised to frame discussion with these disparities in mind.

Arguably a precondition of direct to consumer gene testing is whether such testing is accurate. Accuracy is paramount in situations involving life or death matters. For example, the accuracy of an HIV test is crucial because its results may be life-altering. For pre-dispositional Huntington Disease testing, the stakes are exceedingly high because, unlike HIV testing, treatment does not exist. The accuracy of a paternity test is important because it imparts rights and responsibilities. The accuracy of a forensic test is equally important because in the criminal context it could be the determining factor in guilt or innocence. US genetic testing laboratories generally police themselves by obtaining Clinical Laboratory Improvement Amendments (CLIA) certification for high complexity testing and running validation tests to determine that their tests actually do identify the gene variations they claim the test identifies. However, at the policy level determining what the acceptable percentage of false positive and false negatives ought to be involves not only the reality that no test is ever 100 per cent accurate all of the time, but different levels of certainty will be more or less acceptable depending on the type and magnitude of potential benefits and harms involved. While the US Secretary's Advisory Committee on Genetic Testing, (2000) recommended that regulation of genetic tests take into account these differences, such recommendations have as yet to be adopted with the result that arguably categorical differences between types and uses of genetic tests are not recognized by law or regulation.

The usefulness of the information provided by a genetic test is a separate issue from whether the test is valid.  For some tests the clinical interpretation of a test is clear, even if medical opinion is divided about what one ought to do based on that information, as in the case of BRCA testing. For others, like ancestry testing, there is no prima facia clinical import, unless one of the gene variants identified is later found to be associated with substantiated health risk or diagnosis. But for still others, such as nutrigenetic tests, the debate about their utility involves clarification about what types of tests are or are not diagnostic. While tests that identify heritable susceptibility to disease (such as BRCA testing) are considered diagnostic, it remains an open question as to whether nutrigenetic tests (10) are diagnostic of health risk in the same sense. Arguably, there are important differences between these two risk conferring tests. For example, the health risks identified by nutrigenetic tests represent attenuated risks (that is, a risk component of a risk factor for a major disease), the recurrent risks identified are comparatively lower and relatively benign actions (as opposed to double mastectomy) like dietary and behavioural changes can be undertaken to improve wellbeing and positively mitigate risk factors. Such differences raise policy questions about whether they should be treated differently by regulators than standard predictive tests that are important for medical decision making.

The recent GAO investigation of three different nutrigenetic companies, selling the same tests through different laboratories, concluded that the tests offered and dietary advice provided based on test results were clinically useless. The GAO conclusions were based on its own investigative research and consultations with outside experts. The recent US Senate subcommittee hearing on direct to consumer genetic tests and GAO report are good mechanisms for attracting public attention and interest. Media reporting of such events can do much to engage the public, particularly since the public represents a large stakeholder in policy decisions about whether, and if so, under what conditions direct to consumer genetic testing is allowed. However, the force of the report and the Senate hearing together represent a view that nutrigenetic testing is if not pseudo science then at least not ready for commercialization. The difficulty with this strategy as a way to garner law maker concern about possible regulatory gaps is that it fails to clearly set out what the points of contention really are.

Nutrigenetics/nutrigenomics is in fact a growing internationally recognized field that promises to improve health conditions and prevent disease by understanding individual responses to food compounds and nutrients and so as to prescribe diets that optimize an individual's metabolic functions. Research is showing that dietary intake is important not only to avoid deficiency related diseases, but also to optimise health and preventing diseases resulting from pre-mature aging. Such research is showing that individuals vary in their dietary requirements, based on gene, protein and metabolic variation, and that feeding ones genes with the right nutrients in the right amounts can optimize gene functionality in ways that optimize one's health. A low fat diet, for example, will not lower everyone's cholesterol. Some people require more folate than others and folate (a nutrient found in greens like broccoli) gives some people greater protection against colon cancer. Similarly, specific diets have proven successful treatments for metabolic diseases, such as phenylketonuria (PKU) or adrenoleukodystrophy (ALD), an X-linked progressive degenerative myelin disorder. While there is no cure for ALD, a mix of olive and rapeseed oil, along with a low fat diet, has slowed the progression of ALD in the case of Lorenzo Odone (Lorenzo's Oil) who turned 27 last year.

Herbalists have touted the medicinal benefits of nutrients for centuries, as have local practitioners in rural areas often cut off from western pharmaceuticals. The field of nutrigenomics is beginning to offer valuable insights into the medicinal powers of food components. Data linking the absence of nutritious food (either by access or choice) to poor health outcomes is robust. Evidence is mounting that specific types of dietary factors differentially affect certain genotypes with some more severely affected than others, though none are immune to the adverse effects of a poor diet (11-14). Bruce Ames, a pioneer in the field, believes that that an optimum intake of micronutrients and metabolites, which vary by age and genetic makeup, would tune-up the metabolism and markedly improve health, particularly for the elderly and the poor (15).

The difficulty with strategic events, like the Senate subcommittee hearing "At Home DNA Tests: Marketing Scam or Medical Breakthrough" and timed release of the damning GAO report is that they undercut thoughtful policy making by failing to distinguish key issues, (such as test accuracy and usefulness), to present the competing views on the state of the science or to clearly ask the core question 'when is the science good enough for public consumption'. How the question is framed, how the issues are characterized drives decisions about whether or not to regulate. In the case of the recent hearing and report release, the take away message was essentially embedded in the structuring of the proceedings. Damaging evidence was presented. The companies targeted were then obligated to explain the allegedly bad practices identified, without the opportunity to review findings for misinformation or clarify or refute reported claims.

The key policy question is who should decide that quasi diagnostic information (like that produced by nutrigenomic testing) ought to be available for public consumption, government or consumers? It is hard not to analogise the risks and benefits of the current state of nutrigenetic testing to other types of available dietary advice, such as the Atkins diet and related foods or the South Beach diet. Nutritional advice is notable for its changeability. One year we are advised to avoid saturated fats, like butter and eat margarine instead. Another year, we're told margarine may well be worse than butter.  Some studies claim fish oils are highly beneficial. Other studies recommend avoiding fish because of their high levels of toxins, namely mercury and PCPs. In any case, study results are publicized and available for public consumption. Clearly, we have no choice but to live with uncertainty and make informed tradeoffs in determining our individual healthy lifestyles.

What's really at stake here?  To what extent ought government to protect us from risking harm in accessing, arguably some of our most private information- aspects of our genotype? Should we be free to learn about our individual genetic makeup if we so choose? A primary question is how do we want the issue decided? In other words, do we want the government to determine what we can and can't have access to when it comes to learning something (potentially beneficial, potentially burdensome or both) about our personal genetic makeup? Do we want experts to achieve consensus and issue clinical recommendations? Do we want to subject genetic diagnostics and quasi diagnostics (like SNP - a type of genetic variation) identification and associated health risks) to the same rigorous requirements of evidence based medicine? Given what some claim to be the low genetic literacy of the public, should government decide when people can and can't learn something about their genetic makeup or does society want to permit individuals to make that choice for themselves?   

   

SOURCES & REFERENCES
01) The UK's GeneWatch and the US's previous Secretary's Advisory Committee on Genetic Testing, the current Secretary's Advisory Committee on Genetics, Society and Health, and the recent Government Accounting Office's (GAO) report.
|  17 October 2021
02) In just the past two years 25 per cent more states allow direct access testing, while several states are expanding the list of direct access tests. 'Special Report:  25 per cent More States Allow Direct Access Testing', Matthew Schulze, Laboratory Medicine, Nov. 2001, no. 11, vol. 52.p. 661-4.
|  17 October 2021
03) The Clinical Laboratory Amendments of 1988, are regulated by the Centers for Medicare and Medicaid Services.
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04) The Federal Trade Commission is charged with making sure that there is truth in advertising claims, where claims must be supported by substantial scientific research.
|  17 October 2021
05) The Food and Drug Administration.
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06) The FDA has not generally exercised its jurisdiction over 'home brew' tests (tests developed by laboratories in house), and notably legal analyses several years back were equivocal as to whether FDA had the legal authority to regulate such tests.
|  17 October 2021
07) Forty-nine states compel seat belt wearing.  New Hampshire does not.
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08) There are vast discrepancies between state requirements, with some requiring as few as three screening tests and others requiring as many as 50.
|  17 October 2021
09) Illinois permitted the sale of over the counter HIV testing.
|  17 October 2021
10) Nutrigenomics is the science that examines individuals' responses to food compounds using genetic technologies (such as genomics, transcriptomics, proteomics, metabolomics). By understanding both an individual's genetic makeup it will be possible to tailor dietary requirements to individuals' needs which in turn will optimize gene expression with the goal of reducing disease risks.
|  17 October 2021
11) The NCMHD Center for Excellence for Nutrigenomics
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12) NUGO, the European Nutrigenomics Organisation
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13) Nutrigenomics New Zealand
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14) The Centre for Human Nutrigenomics
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15) Ames, Bruce. The Metabolic Tune-Up: Metabolic Harmony and Disease Prevention.  American Society for Nutrition.  2003, p. 1544S-15449.
|  17 October 2021
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