Healthy Skepticism Library item: 13725

Warning: This library includes all items relevant to health product marketing that we are aware of regardless of quality. Often we do not agree with all or part of the contents.

Publication type: Journal Article

Lenzer J.
Direct to Consumer Genetic Testing: Knowing me, knowing you
BMJ 2008 Apr 19; 336:(7649):858-860
http://www.bmj.com/cgi/content/extract/336/7649/858

Abstract:

Patients are beginning to present with not only a web diagnosis but predictions of future disease. Jeanne Lenzer and Shannon Brownlee examine the problems of the rise in commercial genetic testing

Do you want to Google your genes or peer into your future risks of heart disease or cancer? Now you can, according to direct to consumer testing companies. Gone are the days when genetic testing was limited to doctors ordering tests for rare, but prognostically potent, single gene disorders such as Huntington’s disease, Duchenne’s muscular dystrophy, or cystic fibrosis. Thanks to an explosion of newly discovered single nucleotide polymorphisms, or SNPs (pronounced snips), companies are marketing genetic tests for traits ranging from the mundane-eye colour and wet ear wax-to serious conditions such as Crohn’s disease and Alzheimer’s disease.

While the global market for these tests is growing rapidly-estimated at $730m (£366m; 463m) last year and growing by 20% annually1-evidence that they can provide patients with clinically useful information is lagging far behind. There is little regulatory oversight of the tests, and even less in the way of clinical data . . .

Genomics revolution

Estimating risk

Research benefits

Failed regulation

jeanne.lenzer@gmail.com