Published 29 October 2009, doi:10.1136/bmj.b4253
Cite this as: BMJ 2009;339:b4253

Clinical Review

A practical guide to interpretation and clinical application of personal genomic screening

Emily Edelman, project director1, Charis Eng, Sondra J and Stephen R Hardis chair of cancer genomic medicine, professor and chair2

1 National Coalition for Health Professional Education in Genetics, Lutherville, MD 21093, USA , 2 Cleveland Clinic Genomic Medicine Institute, Cleveland, OH 44195, USA

Correspondence to: C Eng, Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH 44195, USA engc@ccf.org

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


Personal genomic screening is a rapidly evolving area of direct to consumer genetic testing
Such screening uses data from genome-wide association studies to predict a person’s disease risk and tests using many genetic markers at once
Companies may offer genomic testing for common diseases and traits as well as rare mendelian conditions
Screening results may include predictions about physical or personality traits, pharmacogenetic profiles, and ancestry testing
Doctors should use caution when a patient presents with such screening results because their accuracy and usefulness are unknown
Instead, risk of disease should be based on validated clinical methods, such as family history and clinical and biochemical measures


Researchers are identifying genetic associations for common diseases at a rapid pace. With enormous amounts of genome-wide association data available, several for-profit companies worldwide have developed testing services to provide clients with predictions about their risks for a broad spectrum of medical and non-medical . . . [Full text of this article]


Add to CiteULike CiteULike   Add to Complore Complore   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to StumbleUpon StumbleUpon   Add to Technorati Technorati    What's this?

Access jobs at BMJ Careers
Whats new online at Student BMJ