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Hot Topics of the Day|PHGKB
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01/23/2024

Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing.
M CLausen et al, Genetics in Med Open, January 24, 2024

From the abstract: " Increasing demand for genomic testing coupled with genetics workforce shortages has placed unsustainable pressure on standard models of care. Digital tools can offer improved access, efficiency, and cost savings. We created a patient-facing digital health application to support genomic testing. We developed the digital application through user-centered design, guided by an advisory board. We tested its usability and acceptability with patients, practitioners and members of the general public using mixed methods."

Gene selection for genomic newborn screening: moving towards consensus?
L Downie et al, Genetics in Med, January 23, 2024

From the abstract: " We reviewed 1279 genes and 604 met our inclusion criteria. Metabolic conditions comprised the largest group (25%), followed by immunodeficiencies (21%) and endocrine disorders (15%). We identified 55 consensus genes included by all six gNBS research projects. Common reasons for discrepancy included variable definitions of treatability and strength of gene-disease association. We have identified a consensus gene list for gNBS that can be used as a basis for systematic harmonization efforts internationally."

Concurrent Tissue and Circulating Tumor DNA Molecular Profiling to Detect Guideline-Based Targeted Mutations in a Multicancer Cohort.
Wade T Iams et al. JAMA Netw Open 2024 1 (1) e2351700

In this cohort study of 3209 patients undergoing concurrent testing across 4 cancer types who received both tissue-based and ctDNA genomic profiling results, 45.1% had a guideline-based variant detected. Of these patients, 9.3% had a clinically actionable variant detected by ctDNA profiling that was not detected by solid-tissue testing, and 24.2% had a variant detected by solid-tissue testing but not by ctDNA profiling; for patients with breast cancer with actionable variants, 20.2% had a unique, guideline-based variant detected by ctDNA profiling; most (55.0%) of these unique ctDNA variants were in the ESR1 gene. The study suggests that concurrent ctDNA–based and tissue-based genomic profiling identified more patients with targetable, guideline-based variants than would have been discovered by tissue profiling alone, with a higher detection rate among patients with breast cancer. "

Concurrent Circulating Tumor DNA and Tissue Genotyping-Ready for Prime Time?
Benjamin A Bleiberg et al. JAMA Netw Open 2024 1 (1) e2351679

From the article: "Cell-free circulating tumor DNA (ctDNA) is shed by tumor cells into the systemic circulation and, thanks to advancements in next-generation sequencing (NGS) technologies, affords the opportunity to noninvasively detect cancer-specific somatic variants. The use of ctDNA-based molecular genotyping for tumor profiling and identification of patients eligible for targeted therapies has been integrated into clinical practice for a variety of tumor types. The prime example of this is in non–small cell lung cancer (NSCLC), where identifying actionable variants via genomic profiling is essential to determining the appropriate standard of care for patients. "

Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies.
Jinglan Zhang et al. Nat Med 2024 1

From the abstract: "In this multicenter and observational study, pregnant women at elevated risk for fetal genetic conditions were enrolled for a cfDNA screening test based on coordinative allele-aware target enrichment sequencing. This test encompasses the following three of the most frequent pathogenic genetic variations: aneuploidies, microdeletions and monogenic variants. The cfDNA screening results were compared to invasive prenatal or postnatal diagnostic test results for 1,090 qualified participants. The comprehensive cfDNA screening detected a genetic alteration in 135 pregnancies with 98.5% sensitivity and 99.3% specificity relative to standard diagnostics. "


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific 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 Clips, 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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