Knowing me, knowing you

doi:10.1136/bmj.39534.451458.AD

BMJ 2008;336:858-860 (19 April), doi:10.1136/bmj.39534.451458.AD

Feature

Direct to Consumer Genetic Testing

Knowing me, knowing you

Jeanne Lenzer, medical investigative journalist¹, Shannon Brownlee, senior fellow²

¹ New York, ² New America Foundation, Washington, DC

Correspondence to: J Lenzer jeanne.lenzer@gmail.com

Patients are beginning to present with not only a web diagnosisbut predictions of future disease. Jeanne Lenzer and ShannonBrownlee examine the problems of the rise in commercial genetictesting

The first 150 words of the full text of this article appear below.

Do you want to Google your genes or peer into your future risksof heart disease or cancer? Now you can, according to directto consumer testing companies. Gone are the days when genetictesting was limited to doctors ordering tests for rare, butprognostically potent, single gene disorders such as Huntington’sdisease, Duchenne’s muscular dystrophy, or cystic fibrosis.Thanks to an explosion of newly discovered single nucleotidepolymorphisms, or SNPs (pronounced snips), companies are marketinggenetic tests for traits ranging from the mundane—eyecolour and wet ear wax—to serious conditions such as Crohn’sdisease and Alzheimer’s disease.

While the global market for these tests is growing rapidly—estimatedat $730m (£366m; ${euro}$ 463m) last year and growing by 20% annually¹—evidencethat they can provide patients with clinically useful informationis lagging far behind. There is little regulatory oversightof the tests, and even less in the way of clinical data . . . [Full text of this article]