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Last Posted: Oct-20-2019 11:35:42

Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants.
Fridman Hila et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Oct

Expanded preconception carrier screening (ECS) identifies at-risk couples (ARCs) for multiple diseases. ECS reports currently include only pathogenic/likely pathogenic variants (P/LPVs). Variants of unknown significance (VUS) are not reported. The study examined the impact of VUS on ECS yield in an Ashkenazi Jewish cohort.

Blending Insights from Implementation Science and the Social Sciences to Mitigate Inequities in Screening for Hereditary Cancer Syndromes
L Senier et al, MDPI, JPM, October 2019

Genomic screening to identify people at high risk for hereditary conditions has potential to improve population health. If not equitably accessible, genomic screening will exacerbate health inequities or give rise to new ones. We propose a conceptual framework that merges insights from implementation science and sociological research on health inequities

BRCA1/2 Genetic Testing Recommendations Still Leave Issues Unresolved
U Penn Medicine, 2019

Leaders in BRCA research say screening recommendations from the US Preventive Services Task Force are a positive step forward, but testing of individuals with the highest risk must improve. “We should think of genetic testing like the internet. It’s a tool, full of information, but there’s nuance in making sense of that information."

Alzheimer's disease risk genes: a close-up view
Acta Neuropathologica, 2019 special series

This year marks the 10th anniversary of the publication of two genome-wide association studies (GWAS) that heralded a change in the field of complex genetics of late-onset Alzheimer’s disease. Until then, only APOE ?4 was unquestionably recognized as a genetic risk factor for AD because of its large effect on disease risk: the low-hanging fruit.

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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.