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

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.