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Last Posted: Mar 25, 2024
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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."

Using implementation science to evaluate a population-wide genomic screening program: Findings from the first 20,000 In Our DNA SC participants.
Caitlin G Allen et al. Am J Hum Genet 2024 2

From the abstract: "Over 14 months, 20,478 participants enrolled, and 14,053 samples were collected. The majority selected at-home sample collection followed by clinical sample collection and collection at community events. Participants were predominately female, White (self-identified), non-Hispanic, and between the ages of 40-49. Participants enrolled through community events were the most racially diverse and the youngest. Half of those enrolled completed the program. We identified 137 individuals with pathogenic or likely pathogenic variants for CDC Tier 1 conditions. The majority (77.4%) agreed to genetic counseling, and of those that agreed, 80.2% completed counseling. "

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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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