Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Search PHGKB:

Last Posted: Jun 27, 2024
spot light Highlights

The acceptability and clinical impact of using polygenic scores for risk-estimation of common cancers in primary care: a systematic review

From the abstract: "A total of 190 papers were identified, 18 of which were eligible for inclusion. A cancer risk-assessment tool incorporating PGS was acceptable to the general practice population and their healthcare providers but major challenges to implementation were identified, including lack of evidence for PGS in non-European ancestry and a need for healthcare provider education in genomic medicine. A PGS cancer risk-assessment had relatively limited impact on psychosocial outcomes and health behaviours. However, for prostate cancer, potential applications for its use in primary care were shown. "

Development and Validation of an 18-Gene Urine Test for High-Grade Prostate Cancer

From the article: "Can a new 18-gene urinary test for high-grade prostate cancer (ie, grade group [GG] 2 or greater) improve prostate-specific antigen (PSA) screening outcomes relative to existing biomarker tests? Findings: In this diagnostic study including 761 men in the development cohort and 743 men in the validation cohort, novel cancer-specific and high-grade cancer-specific genes were identified from RNA sequencing data and optimally modeled in a development cohort, yielding an 18-gene test for high-grade prostate cancer. Applying a testing approach with 95% sensitivity for high-grade prostate cancer to an external validation population, use of the 18-gene test would have reduced the number of unnecessary biopsies performed relative to current guideline-endorsed tests. Meaning: The new 18-gene prostate cancer test may reduce more burdensome additional testing (eg, imaging and biopsy) while maintaining highly sensitive detection of high-grade cancer in patients undergoing PSA screening. "

Genomic risk scores in prostate cancer: polygenic yes, but are they poly-ancestral?
Arnab Basu et al. J Natl Cancer Inst 2024 2

From the article: "Today, these new studies are providing critical data necessary to update our risk evaluation tools in an intentionally inclusive way and advance the quality of care for all patients with prostate cancer. A recent study focuses on germline risk scores for prostate cancer diagnosis, but closer investigation of genomic data holds the promise of improving outcomes for patients of African ancestry at all stages of their disease course. "

Forget lung, breast or prostate cancer: why tumour naming needs to change The conventional way of classifying metastatic cancers according to their organ of origin is denying people access to drugs that could help them.
F Andre et al, Nature, January 31, 2024

From the article: " Over the past century, the two main approaches to treating people with cancer — surgery and radiation — have focused on where in the body the tumour is. This has led to medical oncologists and other health-care providers, regulatory agencies, insurance companies, drug firms — and patients — categorizing cancers according to the organ in which the tumour originated. Yet there is a growing disconnect between classifying cancers in this way and developments in precision oncology, which uses the molecular profiling of tumour and immune cells to guide therapies."

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.