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.