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Last Posted: Apr 18, 2024
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Liminality between direct and family-mediated contact in the communication of genetic information to at-risk relatives.

From the article: "Ever since genetic test results have been able to be reported, questions have arisen regarding their implications for genetic relatives. Alongside the proband in whom the initial diagnosis is made, family members often also have an interest in the information. Being informed allows an at-risk relative to consider genetic counseling and testing, and to act in advance to prevent or mitigate future morbidity. Indeed, supporting patients to communicate risk information to their relatives is now considered as a key aspect for maximizing the benefits of genomic medicine. "

Challenges and opportunities for Lynch syndrome cascade testing in the United States.
Lauren E Passero et al. Fam Cancer 2024 3

From the abstract: " Lynch syndrome is an underdiagnosed genetic condition that increases lifetime colorectal, endometrial, and other cancer risk. Cascade testing in relatives is recommended to increase diagnoses and enable access to cancer prevention services, yet uptake is limited due to documented multi-level barriers. Individual barriers such as feelings of fear, guilt, and anxiety and limited knowledge about Lynch syndrome as well as interpersonal barriers including complex family dynamics and language barriers limit family communication about Lynch syndrome and prevent uptake of genetic screening for relatives. Organizational and environmental barriers including a shortage of genetics professionals, high costs, and fears of discrimination also reduce cascade testing. These multi-level barriers may disproportionately impact underserved populations in the United States,"

Understanding perceptions of tumor genomic profile testing in Black/African American cancer patients in a qualitative study: the role of medical mistrust, provider communication, and family support
CC Luck et al, J Comm Genetics, Feb 16, 2024

From the abstract: "Tumor genomic profiling (TGP) examines genes and somatic mutations specific to a patient’s tumor to identify targets for cancer treatments but can also uncover secondary hereditary (germline) mutations. Most patients are unprepared to make complex decisions related to this information. Black/African American (AA) cancer patients are especially at risk because of lower health literacy, higher levels of medical mistrust, and lower awareness and knowledge of genetic testing. But little is known about their TGP attitudes or preferences. "

Polygenic Risk Prediction in Diverse Populations and Contexts: Scientific and Ethical Considerations
ELSI Forum Webinar, January 12, 2024

From the website: "The differential performance of polygenic risk scores (PRS) by population genetic background is a well-known scientific concern and one of the most important barriers to their equitable translation for clinical use. Not only must the social repercussions of how people are grouped for test development be considered, but the communication of their context specificity and differential performance to patients and their clinicians must be carefully managed. Drawing on recent research experiences with the development, validation, and implementation of PRS for common complex disease risk, this webinar will explore the scientific and ethical considerations relevant to the widespread adoption of PRS for clinical care."

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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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