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Last Posted: Dec 01, 2022
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Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer
C Moretz et al, JAMA Network Open, October 24, 2022

In a cohort study of 9066 patients with CRC in 2017 to 2020, 2288 (25.2%) did not receive MSI/IHC despite being eligible for coverage. In a cohort of 55?595 patients with CRC diagnosed in 2020 and covered by insurance, 1675 (3.0%) received GGT, and 1 in 6 patients had variants that were clinically actionable. These results indicate that medical policies that provide universal testing for MSI/IHC tumor screening and GGT were underused for patients with CRC, potentially impeding their access to precision therapy, clinical trials, and evidence-based clinical management.

Relatives from Hereditary Breast and Ovarian Cancer and Lynch Syndrome Families Forgoing Genetic Testing: Findings from the Swiss CASCADE Cohort
M Sarki et al, J Per Med, October 19, 2022

Among n = 115 relatives who completed the baseline survey, 38% (n = 44) were in the GT (-) group. Being male (OR: 2.79, 95% CI: 1.10–7.10) and without a previous cancer diagnosis (OR: 4.47, 95% CI: 1.03–19.42) increased the odds of being untested by almost three times. Individuals from families with fewer tested relatives had 29% higher odds of being untested (OR: 0.71, 95% CI: 0.55–0.92). Reasons for forgoing cascade testing were lack of provider recommendation, lack of time and interest in testing, being afraid of discrimination, and high out-of-pocket costs.

Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review
AL Young et al, EJHG, October 17, 2022

Intervention delivery modes included genetic counselling with additional telephone or in-person follow-up, letters, videos, and decision aids. The percentages of at-risk relatives informed by the proband about their risk ranged from 54.0% to 95.5% in the intervention or family-mediated comparison group. Of those who were informed, 24.4–60.0% contacted a genetics clinic and 22.8–76.2% had genetic testing after they were counselled at a genetics clinic.

Genetic Testing Challenges in Oncology: Lynch Syndrome Diagnosis Despite Negative Test Results
T Ray, Precision Oncology News, August 29, 2022

Current screening guidelines recommend that patients between ages 45 and 75 and at average risk for colon cancer, should have colonoscopies every 10 years. However, patients with a personal or family history of colorectal cancer or colon polyps, or patients with Lynch or another inherited cancer syndrome associated with heightened colon cancer risk, may be eligible for more frequent screenings.


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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