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Last Posted: Jun 11, 2024
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Family communication of cancer genetic test results in an ethnically diverse population: a qualitative exploration of more than 200 patients

From the abstract: " Previous research on family communication of cancer genetic test results has primarily focused on non-Hispanic White patients with high-risk pathogenic variants (PV). There are limited data on patient communication of moderate-risk PVs, variants of uncertain significance (VUS), and negative results. This qualitative study examined communication of positive, negative, and VUS hereditary cancer multi-gene panel (MGP) results in an ethnically and socioeconomically diverse population. "

Genetic Testing for Global Developmental Delay in Early Childhood

From the article: "What are the implications of genetic testing for global developmental delay (GDD) in early childhood? Findings: In this cohort study of 434 children with GDD, a diagnostic positivity rate of 61% was identified when using trio whole exome sequencing combined with copy number variation sequencing. A thorough analysis expanded the scope of indications for genetic testing, and the pathogenesis of GDD was further elucidated using a bioinformatics approach. Meaning: These findings suggest that early use of combined genetic testing for GDD may diminish the misdiagnosis rate, elucidate the etiologic diagnosis, and lay the groundwork for identifying novel early diagnostic biomarkers and intervention targets. "

Healthcare utilization and behavior changes following workplace genetic testing at a large U.S. healthcare system

From the abstract: " This study explored employee health behavior changes and healthcare utilization following workplace genetic testing (wGT). Wellness program-associated wGT seeks to improve employee health, but related health implications are unknown. Methods: Employees of a large U.S. healthcare system offering wGT (cancer, heart disease, and pharmacogenomics - PGx) were sent electronic surveys. Self-reported data from those who received test results were analyzed. Descriptive statistics characterized responses, while logistic regression analyses explored correlates of responses to wGT."

Expanding Applications of Clinical Genetic Testing - Ethical Challenges.

From the article: "Thanks to advances in human genomics, both technological and discovery-based, genetic and genomic testing (which we will refer to collectively as “genetic testing”) are playing an increasingly important role in clinical care. Although genetic testing has long been recognized as raising thorny ethical dilemmas, the widening scope and scale of genetic tests are reshaping old concerns and posing new challenges. Moreover, the need to address these ethical challenges is no longer restricted to clinicians in particular niches, instead becoming immediately relevant for all clinicians. "

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.