Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Search PHGKB:

Last Posted: Aug 29, 2023
spot light Highlights

An Environmental Scan of Consumer-Initiated Germline Genetic Testing for Health Risks.
Hannah G Kirby et al. Mayo Clin Proc 2023 8

From the abstract: "An environmental scan was conducted to identify germline genetic testing companies that offer testing for at least one diagnosable health condition and are available for purchase by consumers in the US market without a visit to one's health care provider. We characterized variability in the content and processes used by 21 companies offering 74 distinct test products that met our inclusion and exclusion criteria. A minority (8 of 21 companies) offered tests that assessed the presence of at least 1 US Centers for Disease Control and Prevention Tier 1 condition for which detection can impact an individual's clinical care and for which evidence-based guidelines for detection and management exist."

Curious about your cancer risk, or if your child might develop learning disabilities? There’s a genetic test for that—but it may not be accurate
E Prater, Fortune Well, July 2023

A new wave of expanded genetics tests is flooding the market—social media feeds, at least—and complicating matters. Some promise to predict the gender of your baby, your child’s predisposition to learning disabilities, how specific medications might interact with your genetics, and even how prone you are to developing ear wax. Not all information provided by such tests is useful or accurate. And not all of the accurate information can be acted upon, experts caution. Often, disease can’t be prevented.

Regulating Direct-to-Consumer Polygenic Risk Scores
JS Sherkow et al, JAMA, August 3, 2023

PGSs are available to consumers both through typical direct-to-consumer (DTC) genetic tests, where the consumer provides a genetic sample to be sequenced and analyzed by a company or as pure software, where consumers upload their previously sequenced genetic data to be analyzed. Although the US Food and Drug Administration (FDA) actively regulates DTCs, many DTC-PGSs evade regulatory scrutiny as general wellness products or unregulated software over which the FDA declines to exercise enforcement.

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.