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Last Posted: Aug 16, 2024
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The Global Status of Genetic Counseling in 2023: What’s changed in the past 5 years?

From the abstract: " Based on responses provided between October 2023 and January 2024, we estimate that there are over 10,250 genetic counselors in over 45 countries around the world. These numbers have increased significantly in the past 5 years, when there were ~7,000 genetic counselors. Key factors identified as driving the increase in genetic counselors are the number of training programs that have developed (>130 globally, mostly at a master's degree level), and a growing number of national biobanks and/or population screening programs that require genetic counseling as part of the process. "

A new agenda for implementing population genomic screening

"Nearly a decade into the proliferation of population genomic screening programs, it is clear that such programs provide benefit in certain contexts. Determining whether these programs provide net positive outcomes across diverse populations, however, will require a significant shift in approach and scale. This shift can be modeled on a precision health research agenda that capitalizes on pragmatic and implementation science methods, learning health system principles, and stakeholder engagement. Acknowledging that research and clinical implementation must coexist will help us realize the promise of population genomic screening."

Genome-first evaluation with exome sequence and clinical data uncovers underdiagnosed genetic disorders in a large healthcare system

From the abstract: "Population-based genomic screening may help diagnose individuals with disease-risk variants. Here, we perform a genome-first evaluation for nine disorders in 29,039 participants with linked exome sequences and electronic health records (EHRs). We identify 614 individuals with 303 pathogenic/likely pathogenic or predicted loss-of-function (P/LP/LoF) variants, yielding 644 observations; 487 observations (76%) lack a corresponding clinical diagnosis in the EHR."

Evaluation of a two-step model of opportunistic genomic screening
M Martyn et al, EJHG, March 25, 2024

From the abstract: "Increasing use of diagnostic genomic sequencing is pushing health services to confront the issue of opportunistic genomic screening (OGS). To date, OGS has been offered concomitant with diagnostic testing. In contrast, we piloted a service offering OGS after return of diagnostic testing results. Evaluation was designed to provide insights for future models of service and included patient surveys at three time points, semi-structured interviews with genetic counsellors (GCs) and a focus group with medical scientists. Uptake was relatively low: 83 of 200 patients approached (42%) attended the OGS service, with 81 accepting OGS. "

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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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