Hot Topics of the Day|PHGKB
Screening Familial Risk for Hereditary Breast and Ovarian Cancer
From the abstract: "In a large health system, how many ungenotyped patients meet family history genetic testing criteria for hereditary breast and ovarian cancer? In this cross-sectional analysis, 2.9% of patients had no evidence of prior genetic testing but had electronic health records indicating they met family history criteria. These criteria were associated with significantly increased prevalence of genetic risk variants among 38?003 genotyped patients. These findings suggest that substantial gaps exist in identifying and testing patients meeting family history criteria for hereditary breast and ovarian cancer, and other methods may be needed to close these gaps. "
The Key Features of a Genetic Nondiscrimination Policy A Delphi Consensus Statement
From the abstract: "To identify key elements of an optimal genetic nondiscrimination policy and inform policymakers as they seek to allay genetic nondiscrimination and related public anxieties, 60 multidisciplinary experts from 20 jurisdictions worldwide were consulted to understand their views on effective genetic nondiscrimination policies. Overall, experts agreed that human rights–based approaches are well suited to preventing genetic discrimination. Experts also agreed that explicit prohibition of genetic discrimination within nondiscrimination policies can highlight the importance of genetic nondiscrimination as a fundamental right and ensure robust protection at a national level. "
Crossing the Equity Chasm: Addressing a Second Valley of Death in Biomedical Innovation
From the article: "Recent transformative advances in health and medicine have successfully traversed the valley of death, including progress in genomics, precision medicine, innovative medicines and vaccines, gene therapy, and artificial intelligence. However, it is critical to call attention to a second, important valley of death: the failure to deliver scientific advances to populations most in need. The second valley of death is fueled by socioeconomic, environmental, political, and systemic factors; health system failures; and persistent challenges in closing the last mile in health care, resulting in significant disparities in morbidity and mortality worldwide. "
Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.
Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific 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 Clips, 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.