A word of caution before the rush for genetic testing

In striking down patents on human genes, the recent Supreme Court decision is widely expected to bring down the cost of genetic tests. Testing for specific genes will become more affordable for the average person. This legal decision, coupled with advances in technology that will soon drive down the cost of whole-genome sequencing — a form of testing that reveals a person’s entire genetic code — to a modest $1,000, heralds the new era of genetic medicine.

Enthusiasm is high for the benefits this explosion in personal genetic knowledge can bring. Such benefits include improved medical diagnoses, treatments tailored to each person’s individual genetic makeup, and the possibility of averting future disease through appropriate lifestyle changes, careful monitoring, and, even, risk-reduction surgery, as Angelina Jolie decided to have. A genetic-testing industry is growing rapidly and the Internet is filled with advertisements urging people to learn about their genetic makeup.

Amid all the hubbub and hype, we must keep this in mind: Genetic testing is not right for everyone. There are often good reasons to not have genetic testing, or to have some genetic tests but not others. A person, for example, could choose to have a test that predicts the risk for colon cancer, for which preventive interventions are known and effective. But that same person may choose to not have a test that predicts the risk of developing Alzheimer’s Disease, for which there are currently no known treatments.

Consider the example of James Watson, Nobel laureate for his co-discovery of the double-helix structure of DNA that provided the foundation for the current genetic revolution in medicine. Watson was one of the first people to have his DNA completely sequenced. In the spirit of scientific openness, he allowed his entire DNA sequence to be put on the Internet — but he omitted one item: a gene related to his Alzheimer’s disease risk. For this bit of genetic information, he prefers to remain ignorant.

Certainly genetic-test results can be valuable and helpful to some people. But for others the results can be harmful. Results can cause profound emotional distress. People can feel tainted or diminished when a genetic test reveals a flawed gene. Genetic test results can turn otherwise healthy people into the so-called “worried well,” where any moment of forgetfulness is interpreted as the first skirmish of a losing battle with Alzheimer’s, or every ache is thought to be the start of a devastating disease. Sometimes results can do little more than to leave people to struggle with uncertainty. A variation in a gene may be found, but it is not known whether it is just a harmless variation or the harbinger of a serious health problem.

Test results have been known to cause discord in families as relatives seek to understand what the information may mean for them. Results can create “survivor guilt” in people who find they have been spared a mutated gene that others in their families have inherited. And genetic-test results raise concerns about how this information could be used — or misused — by others, especially insurance companies. The Genetic Information Nondiscrimination Act of 2008 does offer some protections. However, it does not cover disability, life and long-term-care insurance — the very forms of insurance that are most important to people who are concerned about their future health.

Just as our genes mark us as individuals, so our decisions about whether or not to have genetic tests should be based on our individual values, needs and family realities. To help with these weighty decisions, we need more genetic counselors. We need better training for physicians about the pros and cons of genetic testing. And we need more well-crafted and readily available educational tools. Before we march lock step into this new genetic future, let’s make sure that people are provided with the information they need to make the wisest decisions for themselves and their families.

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