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Last Posted: May 02, 2024
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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. "

Population Screening for Hereditary Hemochromatosis
Video Webinar, UNC Precision Public Health Network,

From the website: " Current data suggest that 1 in 300 non-Hispanic White individuals in the United States carry a genetic variation in the HFE gene (C282Y homozygosity) that accounts for most cases of hereditary hemochromatosis (HH). This variation can lead to iron overload and life-threatening complications, such as severe liver disease. However, complications are preventable with early diagnosis and periodic phlebotomies to remove excess iron from the body. In this CDC webinar, speakers discussed how knowledge about HH has evolved since the discovery of the HFE gene in 1997, current opportunities for clinical and public health action to prevent disease, and future research priorities to advance case detection and reduce clinical complications from HH. "

Genetics Visit Uptake Among Individuals Receiving Clinically Actionable Genomic Screening Results.
Marci L B Schwartz et al. JAMA Netw Open 2024 3 (3) e242388

From the abstract: "What factors are associated with completion of a genetics visit in a population with positive genomic screening results? In this cohort study of a population genomic screening program including 1160 participants, several demographic and program-level factors were associated with the likelihood of completing a follow-up genetics visit. Desire to follow-up with primary care was the most frequently reported reason for declining to schedule a genetics visit. These findings suggest genomic screening programs may be more successful at supporting patients and clinicians in translating genetic results into clinical action by providing a framework for care coordination among primary care practitioners, genetics clinicians, and specialists."


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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