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The DNA Dilemma: Desperate for a Diagnosis?

DNA test packet Yesterday, we posted on last month’s passage of the Federal Government’s Genetic Information Nondiscrimination Act.

We hope that the law will help protect Americans’ coverage and employment despite their genetic likelihood for disease. This should allow them to feel more comfortable with seeking information about their own DNA in order to better manage their health.

Prior to this legislation passing, however, patients were seeking more private ways of testing their DNA – primarily through take-home kits.

  • The popularity of take-home genetic test kits – for people who want to avoid the cost of going to a doctor and wish to retain their privacy – has been growing. (It seems to be as simple as swabbing your mouth to collect a DNA sample and sending it off to a lab.) Whether this trend will continue now that the anti-discrimination law better protects that privacy remains to be seen. But in the meanwhile, genetic testing is not regulated by the FDA; there is no way to make sure your take-home test results are accurate.
  • Public health officials and doctors are also concerned that the average person will not know how to interpret the results and their implications either medically or psychologically. Just because your test is positive for a disease gene doesn’t mean that you’ll definitely get the disease or that if you do, it will be a severe case. Studies have shown that the U.S. health care system as a whole isn’t equipped yet to deal effectively with the information found in genetic tests.

This hasn’t stopped genetic science in its onward march:
1. Mysterious Cancers: A new genetic test will soon be available to help doctors find the source of mysterious cancers whose origins are unknown. While most cancers are named for the body part in which the first tumor is found – lung, bone, etc. – some cancers are not found until they’ve spread and the primary tumor is hard to determine. Knowing where the cancer began and therefore what type it is will help scientists and doctors determine the best course of treatment for these patients.

2. Personalized Medicine: Tailoring treatment regimens to a person’s specific DNA is a growing trend. It combines therapeutics and diagnostics, or “theranostics”. Its advocates say that being able to develop different drugs for different folks with the same disease will be more effective and thus lower the costs spent on ineffective drug treatments.

3. Rare Disorders: For those with the rarest of rare diseases, for which no known treatments or even a basic understanding exist, the National Institutes of Health announced in May that they will study the genes of those desperate for a diagnosis in an attempt to help them and others like them.

How the growth in genetic testing will figure into America’s rising health care costs has yet to be seen. Up until now, drug companies have remained profitable by trying to corner the market with drugs that work for the largest numbers of people with the most common disorders.

But it is hard to imagine how our nation’s behemoth drug companies will gain economies of scale in producing drugs for small populations of sick people with rare gene types. Should we even expect them to? And if not, should we tell those with diseases that need more tailor-fit treatments to give up hope – our health care system is not made for them?

Whatever the NIH or other researchers learn it is bound to help advance medicine, which is ultimately rooted in science – even though sorting out how best to translate this science into affordable and accessible medicine can sometimes seem an art.

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