Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon
TD O'Brien et al, AJHG, July 27, 2023
The Healthy Oregon Project (HOP) is a statewide effort that aims to build a large research repository and influence the health of Oregonians through providing no-cost genetic screening to participants for a next-generation sequencing 32-gene panel comprising genes related to inherited cancers and familial hypercholesterolemia. Overall, we have identified 730 pathogenic/likely pathogenic variants in 710 participants in 24 of the 32 genes on the panel. The carrier rate for pathogenic/likely pathogenic variants in the inherited cancer genes on the panel for an unselected population was 5.0% and for familial hypercholesterolemia was 0.3%.
Still "on the Fence" About Universal Childhood Lipid Screening: The USPSTF Reaffirms an I Statement.
Sarah D de Ferranti et al. JAMA 2023 7 (3) 225-227
As in 2007 and in 2016, the task force again finds evidence insufficient to recommend for, or against, screening for lipid disorders in childhood, including both genetic conditions such as FH and secondary multifactorial lipid disorders—an I statement. This USPSTF recommendation is anchored in uncertainty about long-term benefits and safety of screening for, identifying, and treating childhood lipid disorders and uncertainty about the optimal age to start lipid-lowering therapy (ie, in childhood vs adulthood). At the crux of the controversy is the distinction between childhood screening for FH and general childhood lipid screening, as the latter will predominantly identify secondary lifestyle-related lipid abnormalities.
Screening for Lipid Disorders in Children and Adolescents: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.
Janelle M Guirguis-Blake et al. JAMA 2023 7 (3) 261-274
Lipid screening in childhood and adolescence can lead to early dyslipidemia diagnosis. The long-term benefits of lipid screening and subsequent treatment in this population are uncertain. We reviewed benefits and harms of screening and treatment of pediatric dyslipidemia due to familial hypercholesterolemia (FH) and multifactorial dyslipidemia. We found no direct evidence on the benefits or harms of pediatric lipid screening was identified. While multifactorial dyslipidemia is common, no evidence was found that treatment is effective for this condition. In contrast, FH is relatively rare; evidence shows that statins reduce lipid levels in children with FH, and observational studies suggest that such treatment has long-term benefit for this condition.
Public attitudes challenge clinical practice on genetic risk disclosure in favour of healthcare-provided direct dissemination to relatives
A Rosen et al, EJHG, July 20, 2023
Germline genetic testing often has implications not only for the individual patient but also for their genetic relatives. This is especially true for high-penetrance pathogenic variants associated with conditions such as familial hypercholesterolemia and hereditary cancer risk syndromes like Lynch syndrome and the hereditary breast and ovarian cancer syndrome. For these conditions, targeted prevention programs are available, and cascade screening is cost-effective. It is therefore highly relevant to find effective strategies to disclose information from the genetic investigation to healthy relatives at risk. Informing relatives at risk enables equitable access to pre-test genetic counselling and a possibility for them to make an informed decision about genetic testing as well as prevention.