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Last Posted: Jan 23, 2025
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The Path to Genomic Screening—Far From Simple, but the Journey Has Begun

From the article: "Today’s genomic technology introduces a multitude of assays that could be deployed in health care: diagnostic testing of patients with suspected monogenic conditions, polygenic risk prediction for common diseases, pharmacogenomic analysis for drug-gene interactions, analysis of tumors for targetable somatic sequence variations, and noninvasive screening for prenatal chromosomal disorders or occult cancer. Alongside these approaches we must also grapple with screening of the ostensibly healthy population for monogenic diseases of newborns, children, and adults with either targeted or genome-scale sequencing. "

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. "

Harnessing cancer genomes for precision oncology

From the abstract: "Precision oncology has just received a boost: a report on the prevalence of mutations in cancer driver genes based on whole genome sequencing of 10,000 clinical cases. The challenge ahead lies in how to explore the data to accelerate new discoveries in cancer biology while advancing precision oncology. "

Advancing Genomic Cancer Medicine in Rural and Underserved States

From the article: "In the evolving landscape of oncology, the integration of powerful genomic technologies into practice has ushered in a new era of precision cancer medicine. Complex genomic information such as mutational analyses, transcriptional signatures, and polygenic risk scores have become key diagnostics guiding therapeutic decisions and management of inherited cancer risk. However, the expertise to interpret these data for clinical decision-making remains constrained and is a significant challenge for community oncologists, especially those in rural regions and in medically underserved areas. While physical access to these tests is readily available, poor access to interpretive expertise has become the key limiting factor. "

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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.

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