U.K. Commission Releases Recommendations on Direct Sales of Genetic Tests

By Barbara J. Evans, J.D., Ph.D., LL.M. candidate

A number of ethical and regulatory problems arise when genetic tests are sold directly to the public without involvement by suitably-trained health care professionals. In April, 2003, the U.K. Human Genetics Commission (HGC) released recommendations from its fourteen-month study of these issues. The HGC acts as the U.K. government’s advisory body on social and ethical issues surrounding human genetics. Its recommendations, though not binding, will serve to shape British policies in the area.  The report is available at http://www.hgc.gov.uk/genesdirect/index.htm.

The report used the term “direct sales” to refer to any genetic test that is marketed without a physician as intermediary. This includes tests marketed directly to consumers such as home-use test kits or testing services that allow the user to collect a sample at home and then send it to a lab for testing. It also includes tests offered by non-medical intermediaries such as pharmacists, nutritionists, or other complementary therapists. The latter are expected to become an important outlet for direct sales in coming years. For example, it is envisioned that weight-loss programs may recommend special dietary regimens that are ostensibly tailored to the client’s unique genetic and metabolic characteristics.  Companies selling nutritional supplements may offer genetic testing as a promotional strategy.

The report found that, to date, consumers have not exerted strong pressure to gain increased direct access to genetic testing products and services. The HGC found that 80% of people surveyed say they would prefer to have a doctor involved in the decision to perform genetic tests. The report noted that some home-testing products placed on the market in recent years, such as a test for cystic fibrosis carrier status, were subsequently withdrawn in the face of weak consumer demand.

Even so, the HGC believes direct tests will gain momentum in coming years as more tests become available and as entrepreneurs fashion new ways to integrate genetic testing into their overall product lines. The report drew an analogy with home pregnancy testing kits, which took several years to insinuate themselves into widespread consumer use. Now, however, many expectant mothers already have self-diagnosed a pregnancy with a home test kit before they ever approach a doctor for prenatal care. Initial surveys of consumer preferences are thus subject to change in a relatively short period of years.

The report accepted that a right to obtain information about oneself is an important aspect of personal autonomy and that the state should not interfere with this right except to address important public concerns. It identified a number of potential harms that may justify state regulation of direct sales, of which these are examples:

In addressing some of these issues, regulators may be forced to re-think the meaning of some of their most basic regulatory concepts, such as “consent” and “effectiveness.”  Genetic tests can reveal information not only about the test subject but about family members and members of the subject’s broader ethnic group. This raises well-known concerns about who should appropriately be empowered to consent to a test.  These concerns are especially troubling in the context of directly sold tests, which may escape the customary institutional controls such as verification and documentation of valid consent in a clinical setting.

The HGC is particularly concerned about placing proper limits on the power of parents to consent to a genetic test of a child. Curious parents, eager to satisfy their own worries about whether they have produced a perfect child, may carry out tests that leave a child under a lasting shadow of worry or uninsurability. Thus the HGC recommends strict legal limits, including definition of a new crime for performing genetic testing of a person who has not consented to the test. Tests performed on minors should be limited to tests that have near-term implications for treatments to be given during the course of childhood. Thus, it would not be appropriate to test a child for susceptibility to a condition whose effects show up only much later in life. Rather, such a test should be deferred until the child has reached the stage of maturity at which he or she can make an informed personal decision about whether to consent to testing.

The HGC noted that issues related to paternity testing and genetic tests for behavioral characteristics are quite complex. Indeed, the HGC proposed to conduct separate, additional studies of these topics before making recommendations. Surreptitious paternity testing performed at home without the knowledge of all affected family members and without access to counseling could place a family at risk for default of parental support, domestic violence, or other serious problems. These may call for strict state limits to be placed on direct sale of such tests or, at a minimum, provisions to verify consent and to provide counseling as part of the basic testing service. Similarly, tests that purport to reveal a child’s mental or behavioral characteristics could cause children to be, for example, branded as misfits or placed under unrealistic expectations of genius.

On the question of effectiveness of genetic tests, the HGC recommends that British regulators define it in terms similar to those recommended recently in the U.S. by the Secretary’s Advisory Committee for Genetic Testing.  The SACGT definition involved three factors:

Great regulatory effort and cost would be required to ensure that all genetic tests on the market are “effective.”  Decisions will obviously have to be made about overall regulatory strategy.  For example, is the goal to ensure that all tests meet a defined standard of effectiveness before they are allowed on the market, or is the goal simply to remove tests from the market retroactively when quackery is apparent?

The report considered several possible regulatory approaches, ranging from an outright ban on direct sales, to state regulation, to industry self-regulation, to an open-market policy involving little or no regulation at all. The HGC recommended against an across-the-board ban on direct sales.  The report stressed that different regulatory approaches are appropriate for different types of tests. Certain classes of tests, such as those that provide predictive health information about serious health conditions, may not be suitable for direct sale to consumers at all.  Tests that reveal a carrier status that only affects future generations, for example, may call for lighter regulation than those that reveal a likelihood of a serious condition affecting the test subject.  Tests that produce particularly murky results, from the standpoint of analytical or clinical validity, may not be suitable for direct sales without further provision for counseling or training of intermediaries.  Many types of tests that are suitable for direct sale may nevertheless need to be linked to provisions for appropriate counseling and follow-up.  On the other hand, mandatory counseling presents its own troubling questions, since it may restrict access to information by well-educated test subjects who are quite capable of making use of their test results without a lot of intrusive and costly follow-up.

In general, the report called for stricter controls than now exist, using a combination of stringent industry self-regulation and direct governmental regulation. This could include, for example, special licensing requirements for non-physicians, such as nutritionists or pharmacists, who act as intermediaries in direct sales.  The goal would be to ensure that    consumers have access at the point of sale to trained intermediaries who have appropriate knowledge about the tests they are selling and who are bound by certain basic ethical duties similar to those seen in the physician/patient relationship. Numerous technical issues will need to be addressed.  These include proper labeling of test kits; regulations to standardize record-retention, reporting, and confidentiality requirements for companies performing genetic tests; and housekeeping details such as regulations governing proper disposal of tissue samples that are obtained in the course of testing.

The report recommended a government-sponsored consumer awareness campaign to increase public awareness of the proper uses and limitations of genetic tests.  It also noted the importance of avoiding an unreasoning stance of “genetic exceptionalism.”  It must be remembered that many of the issues surrounding genetic testing also arise in the context of other types of medical tests. The goal should be to address valid regulatory and ethical issues, wherever they occur, rather than to single out genetic tests for more or less regulation than other types of tests that present similar issues.