Intended for healthcare professionals

Clinical Review

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

BMJ 2009; 339 doi: (Published 29 October 2009) Cite this as: BMJ 2009;339:b4253
  1. Emily Edelman, project director1,
  2. Charis Eng, Sondra J and Stephen R Hardis chair of cancer genomic medicine, professor and chair2
  1. 1National Coalition for Health Professional Education in Genetics, Lutherville, MD 21093, USA
  2. 2Cleveland Clinic Genomic Medicine Institute, Cleveland, OH 44195, USA
  1. Correspondence to: C Eng, Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH 44195, USA engc{at}

    Summary points

    • 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 conditions and traits—from ancestry grouping, to earwax type, to prostate cancer. Many of these companies provide services direct to the consumer, without input or authorisation from a doctor or other healthcare provider.

    Sources and selection criteria

    Because of the various types of genetic associations analysed and the rapid evolution of tests offered by personal genomic screening companies, data on evidence based assessments of these services are limited. We searched PubMed for combinations of terms such as “direct-to-consumer”, “personal-genomic testing”, “personal-genomic profile”, “clinical utility”, “clinical validity”, and “evidence” to identify studies assessing the current state of evidence.

    We searched the Genetics and Public Policy Center at Johns Hopkins University and the Human Genetics Commission’s 2007 report More Genes Direct to identify direct to consumer genetic testing companies that provide personal genomic scanning for multiple conditions. We reviewed the websites of many of the companies.

    Doctors may be asked for advice on medical matters that arise …

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