Direct to Consumer Genetic Testing — The Need for Early Filtering of Genetic Information

[Ed. Note: We are pleased to welcome Professor Gaia Bernstein to Health Reform Watch. Articles about her recent scholarship, "Over-parenting," may be found at the ABA Journal and The New York Times Magazine.]

Genetic testing for adult onset diseases used to be mainly a medical service. In most cases a person who had a certain genetic disease that was prevalent in her family would go to test to see if she carries the genetic mutation. For example, a woman who had several cases of breast cancer in her family would test for the breast cancer genetic mutation BRCA1/BRCA2 to see if she carries the mutation and has a high probability of getting the disease. But, the proliferation of direct to consumer genetic testing changes the nature of the service to a consumer service. Companies like 23andme and Pathway Genomics (who was planning to start selling its kits in Walgreens) offer consumers the option to buy packages of tests (ranging from 25 to over a 100 conditions). Consumers often buy the tests to satisfy their curiosity or they may even receive them as a gift. People purchasing the testing packages usually do not consult a medical professional when deciding to undergo the tests and receive the results alone by accessing a website.

Yesterday I spoke before the FDA, which is considering regulating direct to consumer genetic testing. My presentation was based on a symposium piece I am working on. I argued for the need for a medical professional to guide people throughout the process and advise them not just on the interpretation of the results but also earlier in the process to determine what genetic information they actually want to have.

Interpreting the results of genetic tests is not easy. Unlike other over the counter tests, like a pregnancy test, which gives a clear positive or negative result, genetic tests are about probabilities. Even a person who tests positive for a certain mutation may still not get sick depending on other non-genetic factors. People have a hard time understanding the results of genetic tests and for that reason there have been many calls to require the guidance of a medical professional for the delivery of the results.

But I believe focusing on the interpretation of the results is only half the issue. It is important to have professional guidance also at the outset to determine what tests to undergo. A medical professional should guide individuals and tailor the panel of tests to the individual who desires to test. Why is that? Well, first of all, some people, if they get a chance to give it some thought, may not want to know all their genetic information. For example, a person may prefer not to know that he is likely to get Alzheimer’s at a young age. Secondly, not all genetic information is made equal. Some genetic tests do not convey that much useful information. For example, a positive result in some tests may only demonstrate a slightly higher likelihood of getting the disease than the probability in the general population. Eliminating such tests at the outset will facilitate the interpretation of the results. It would be possible to focus on the truly important positive results at the end of the process.

To achieve all this it is important for the law to require the guidance of a medical professional who is not a representative of the genetic testing company. A medical professional working for the genetic testing company may have good knowledge of the tests, but could have an interest in having the consumer purchase as many tests as possible. This could place him in a conflict of interest with the consumer who could be best off by purchasing a more limited panel of tests tailored specifically for him.

Cross-Posted at PrawfsBlawg

Genetic Discrimination and the Future of Health Insurance

Have health insurance companies outlived their useful life?

The Genetic Information Nondiscrimination Act (GINA) is taking effect.  The employment provisions are effective on November 21.  The health coverage provisions began to apply on May 21, 2009, with group coverage required to comply with on the start of the plan or policy year following that date.  As a Monday NYT story describes,  the purpose of GINA is to prohibit discrimination in employment and health coverage on the basis of genetic condition.  The Times cites examples of denial of coverage on genetic grounds;  some additional “horror stories” are told of people denied coverage due to a genetic marker for a medical condition.

Genetic discrimination is widely regarded as an “unfair” basis on which to deny health coverage.   As then-President George W. Bush explained in 2001:

Genetic discrimination is . . . unjustified — among other reasons, because it involves little more than medical speculation. A genetic predisposition toward cancer or heart disease does not mean the condition will develop. To deny employment or insurance to a healthy person based only on a predisposition violates our country’s belief in equal treatment and individual merit.

This assessment seems to match our general sense of fairness.  But why is a genetic predisposition different from other predispositions for insurance underwriting purposes?  Does hypertension mean that stroke or heart attack will develop?  Does the occurrence of a heart attack mean that another will occur?  Not necessarily, but both are statistically valid indicators of future health costs, as are some genetic predispositions.  One person’s medical speculation is another’s actuarial probability.  So why ban the use of genetic information, but not the use of preexisting illness?  Or, for that matter, age and gender?

GINA passed overwhelmingly, but Congress has otherwise been slow to limit health-based underwriting.  Part of the explanation for carving out genetic information is its novelty, and the fact that one’s DNA is never one’s “fault.”  But manifestation of genetic conditions is also not one’s fault, and GINA has nothing to say about underwriting based on symptomatic genetic disease.  Maybe a more powerful force behind GINA’s passage was researchers’ fear that genetic discrimination would drive test subjects away from genetic research.  Dr. Francis Collins, then-Director of NIH’s National Human Research Genome Institute, testified to this concern:

[T]he science of genomic medicine is rocketing forward. But fear of genetic discrimination threatens to slow both the advance of such groundbreaking biomedical research and the integration of the fruits of that research into our nation’s health care.

So, is GINA’s incursion into health insurers’ common freedom to charge more for those likely to be sick an anomaly?  It does seem to run afoul of what Donald Light, in 1992, wryly called the “inverse coverage rule”:

the inverse coverage law: the more people need coverage, the less coverage they are likely to get, or the more they are likely to pay for what they get.

Increasingly, Americans seem to have had it with business models premised on denying care to those most in need.   A recent WSJ/NBC poll found that the most popular currently proposed reform provision “by a mile” was that forbidding exclusions for pre-existing medical conditions.

Here’s a modest proposal.  It is time to end insurers’ use of risk selection.  Insurers face steady erosion in their ability to risk-select as that practice increasingly rubs against our basic moral principles.  In addition, health coverage is less and less like “insurance,” as routine care is covered, and as it is easier and easier for insurers and consumers alike to discern who is likely to need to draw down on the “insurance” pool.   Insurers already do a great deal of their business, without bearing risk or using risk selection to generate income, administering self-funded plans for large employers (as ASOs or TPAs).  It is time for government to bear the risk (which it increasingly does anyway), and for insurers to be set to tasks that add social value.  They add value in their ability to form, maintain, and administer provider networks.  Why should their profit or loss depend on their ability to identify and exclude the needy?   Clearly health reform in 2009 won’t get us this far, but let’s start admitting it: exclusion from coverage and care on the basis of need for health care should not be a business model supported in America.