Today in the @TheLancet, we UK geneticists argue: "Population screening requires robust evidence—genomics is no exception" @annekeluc, @HelenVFirth, @GeneticBill, @carolinefwright, @mgtmccartney, @wilkie_lab, @RobinLachmann,@group_tomlinson,@lucymedgen authors.elsevier.com/a/1iD4W…

Dec 7, 2023 · 8:26 AM UTC

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Proponents of PRS seem to be those with companies marketing PRS or large grants investigating/cataloging PRS. Sceptics of PRS seem to be those with experience in clinical-public health genomics with no skin in the game. Not perfect segregation, but I bet chi-squared significant.
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I here am clumsily defining <<PRS>> to mean <<PRS for population-level stratification for allocation of screening/preventative drugs>>. Which is primary use-case for most, especially to industry. Conversely, PRS for risk-modification in patient groups already ascertained .. 1/2
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as being of prior elevated risk (eg BRCA/ATM/CHEK2 path var, or strong family history) is likely to be very useful in best directing interventions, as exemplified by excellent CanRisk/BOADICEA tool widely used in cancer genetics (from @antonis02 at @CCGE_Cambridge) 2/2
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Newborn screening is something that people get passionate about; just how disruptive will would whole genome sequencing be? Coming Jan 5th 2024 linktr.ee/jimd_podcasts
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Screening should improve survival (or health-related quality of life), do more good than harm and offer value for the health care resource expended. Very happy if it is “disruptive” (whatever than means) if it is well evidenced through well-controlled studies as attaining above…
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Looking forward to sharing a podcast featuring Jim Bonham and David Bick discussing genomic screening tithe start of 2024.
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It continues to astound me that the value of PRS prediction as a component of a fully integrated clinical, biological and genetic model is not recognized - by refusing to consider this implementation (along with Mendelian screening) the august authors do the field a disservice.
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