Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralized overgrowth

Identifying unaffected individuals at increased genetic risk of developing cancer allows them to access screening, prevention and early detection programmes. The National Institute for Health and Care Excellence (NICE) published NICE guideline “NG241: identifying and managing familial and genetic risk of ovarian cancer (OC)” in March 2024 recommending changes to germline genetic testing pathways across the UK. This study looks at impact of implementation on data from a family history/genetics service with a population of ~ 3.8 million. The study identifies challenges with resource and equity of test access that need to be addressed before the guidelines are fully embedded. (By Dr. Katie Snape, https://jmg.bmj.com/content/early/2025/01/26/jmg-2024-110364 )

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