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Last Posted: Sep 28, 2022
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High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer
N Flaum et al, Genetics in Medicine, September 28, 2022

This is the largest report of women with familial EOC undergoing wider testing to date. One-fifth of BRCA-negative women were heterozygous for a pathogenic variant in a potentially actionable gene. Wider genetic testing of women with familial EOC is essential to optimize their treatment and prevention of disease in family members.

Awareness and use of genetic testing: An analysis of the Health Information National Trends Survey 2020
JC Tiner et al, Genetics in Medicine, September 22, 2022

Overall, 75% of participants were aware of genetic testing and 19% of participants had genetic testing. Ancestry testing was the most common type of testing that the participants were aware of and had received. Non-Hispanic Asian, Non-Hispanic Black, and Hispanic respondents and participants with incomes less than $20,000 were less likely to be aware of and have received any type of genetic testing.

The controversial embryo tests that promise a better baby Some companies offer tests that rank embryos based on their risk of developing complex diseases such as schizophrenia or heart disease. Are they accurate — or ethical?
M Koslov, Nature, September 21, 2022

Pre-implantation genetic testing (PGT) for rare genetic disorders and chromosomal abnormalities has become common practice in the US$14-billion IVF industry. But testing for polygenic conditions (often referred to as PGT-P) is much newer, with only a small handful of companies selling it in a few countries, including the United States and Brazil, where it is largely unregulated.

Genetic Testing in High-risk Spontaneous Coronary Artery Dissection—Searching for Clinical Utility Among Background Genetic Noise
JAMA Cardiology editorial, September 15, 2022

There likely is a small subset of patients with SCAD who would derive benefit from genetic testing. In these cases, genetic confirmation of an inherited CTD/arteriopathy would help (1) guide additional screening to identify potentially harmful disease manifestations in other organ systems/vascular beds and (2) facilitate the screening of at-risk relatives before the development of potentially life-threatening complications. As such, developing a better understanding of the burden of clinically actionable genetic variants (aka P/LP variants) could help inform which subset(s) of patients with SCAD, if any, would benefit most from clinical genetic testing.

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.