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Last Posted: Oct 02, 2023
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Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relatives.
Brandie Heald et al. J Natl Cancer Inst 2023 9

From the abstract: "Cascade testing using multigene panels was performed in 3,696 relatives of 7,433 probands. Unexpected PGVs were identified in 230 (6.2%) relatives, including 144 who were negative for the familial PGV but positive for a PGV in a different gene than the proband and 74 who tested positive for the familial PGV and had an additional PGV in a different gene than the proband. Of the relatives with unexpected PGVs, 36.3% would have qualified for different or additional cancer screening recommendations. Limiting cascade testing to only the familial PGV would have resulted in missed, actionable findings for a subset of relatives."

Refining a multifaceted model of perceived utility of genomic sequencing results.
Devan M Duenas et al. Public Health Genomics 2023 8

From the abstract: "Research on the perceived utility of genomic sequencing has focused primarily on pediatric populations and on individuals and families with rare genetic diseases. Here, we evaluate how well a multifaceted perceived utility model developed with these populations applies to a diverse, adult population aged 18-49 at risk for hereditary cancer and propose new considerations for the model. Participants’ discussions of utility often involved multiple domains and revealed the variety of ways in which receiving sequencing results can impact one’s life. Results demonstrated that an individual’s perception of utility can change over the life course when sequenced at a relatively young age and may be influenced by the resources available to them to act on the results."

“I don’t need any more unknowns hanging over my head”: Cancer patients’ views on variants of uncertain significance and low/moderate risk results from genomic sequencing
S Shickh et al, Genet in Medicine, August 11, 2023

We sought to explore patient-reported utility of all types of cancer results from genomic sequencing (GS). This was a qualitative study, using semi-structured interviews with patients who underwent GS within a trial. Patients’ perceptions of the utility of cancer GS results hinged on whether they triggered clinical action. For example, when patients were enrolled into high-risk breast cancer surveillance programs for low/moderate risk breast cancer genes, they perceived the results to be very “useful” and of moderate-high utility. In contrast, patients receiving low/moderate risk or primary VUS results without clinical action perceived results as “concerning”, leading to harms such as hypervigilance about cancer symptoms.

Testing your genes for cancer risk is way cheaper now — and it could save your life
NPR, August 2, 2023

Cancer is the second leading cause of death in the United States, and about 10% of it is thought to come from inherited genetic mutations that increase risk. Experts say that millions of people in the U.S. are walking around with a genetic variant that raises their risk of developing cancer. The vast majority of them have no clue. That's a problem, because people who know they're at a higher risk for certain cancers can take action, like going for more frequent screening tests such as colonoscopies and mammograms or even having preventive surgeries.

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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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