Imagine there was foolproof test that could tell you if you had any illness at all.

[Picture Dr. Crusher from Star Trek-TNG and her little handheld that she could wave over you to make a diagnosis. Yeah. That’d be useful.]

May the time not be too distant...

Perhaps you’ve heard how lousy some of the tests we currently use in medicine are for detecting disease: There are false positives and negatives (e.g. mammograms and PSA tests), they are often inconvenient (e.g. colonoscopies and PAP smears), and often we don’t really know the best thing to do with a given result (e.g. should all patients with osteoporosis be on a drug like fosamax?).

Though it hasn’t reached the proverbial tipping point, we have already entered a whole new era. Cue the cliche music.

For what seems an ever-decreasing cost (it was thousands, then hundreds, recently $499, now $199) you can literally spit into a test tube and get your own genetic information from several different commercial companies. There are many novel aspects to this trade:

  1. The direct-to-consumer nature of these businesses bypasses the ‘medical establishment’ (i.e. your doctor or ‘medical home’) entirely.
  2. The amount of information you get is truly astounding. Overwhelming, in fact.
  3. The information is ‘actionable intelligence’ that allows you to make health decisions to prevent disease before it manifests.
  4. By undergoing such an analysis, the possibility of developing more tailored treatment exists (i.e. medication that specifically targets your disease).
  5. You can learn the truth. The painful truth. About yourself. About your lineage (are those your real parents?).

Before taking the plunge, read up on genetic testing and decide if it’s right for you. Though the promise of prevention and good health exists, you’re far more likely to come away with more questions than you do answers. The tests show tendencies (or ‘potential susceptibilities’); they are not of a binary yes/no, ‘disease or not’ nature. This can be frustrating. And once you learn about your genetics, there’s no turning back. Knowledge is power, but it also brings responsibility.

As I alluded to above, sometimes the information revealed can shake up perceptions of the self. And since there’s no doctor or genetic counselor between you and this information, it can difficult to interpret. And I took a course in this stuff.

There are a lot of questions out there that make genetic testing still something of a Wild West in medicine. Among them:

1. Should commercial direct-to-consumer genetic tests be subject to regulation by the FDA?

2. Walgreen’s was planning to sell a $20 retail kit that consumers could buy and send in. The kits never reached the shelves. What happened?

3. How safe and private is your genetic information? Can it be used against you, to deny you health coverage or life insurance? What are your rights with regard to knowledge about your own genome?

Fortunately, there is a federal law known as GINA: The Genetic Information Nondiscrimination Act (2008), which makes it illegal to discriminate in hiring or providing health insurance to an American because of his or her genetics.

Any readers out there that have used one of these services? Would you be willing to share your feelings about the experience?