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Last Posted: Oct 04, 2024
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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. "

Benefits for children with suspected cancer from routine whole-genome sequencing

From the abstract: " Clinical whole-genome sequencing (WGS) has been shown to deliver potential benefits to children with cancer and to alter treatment in high-risk patient groups. It remains unknown whether offering WGS to every child with suspected cancer can change patient management. We collected WGS variant calls and clinical and diagnostic information from 281 children (282 tumors) across two English units (n=152 from a hematology center, n?=?130 from a solid tumor center) where WGS had become a routine test. Our key finding was that variants uniquely attributable to WGS changed the management in ~7% (20 out of 282) of cases while providing additional disease-relevant findings, beyond standard-of-care molecular tests, in 108 instances for 83 (29%) cases."

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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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