Populacyjny skryning w oparciu o badania genetyczne – perspektywy i ograniczenia

Michael F. Murray i wsp. DNA-Based Population Screening. Potential Suitability and Important Knowledge Gaps. JAMA. Published online (dostępny pełen tekst ang.)

Currently, it is estimated that more than 1% of the population carries a pathogenic DNA variant associated with either HBOC (BRCA1, BRCA2), Lynch syndrome (MLH1, MSH2, MSH6, PMS2), or familial hypercholesterolemia (LDLR, APOB, PCSK9). A move away from medical history–based screening and toward optimized DNA-based population screening for these genes has been proposed as an approach with the potential to offer short-term benefit for the estimated 3 to 4 million individuals in the United States with 1 of these risks and longer-term benefit to more people as the screenable number of genes increases. However, many questions need to be answered before commencing with routine population-based screening. Potential approaches to piloting DNA-based screening implementation approaches have been described.

JAMA, 6 grudnia 2019

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