Tag Archives: risk

Genetics

Polygenic risk scores – dead end of human genetics

Eric Topol will agree on the fact that

the practice of utilizing the DNA of an individual to predict disease has been judged to provide little to no useful information.

but they nevertheless the group tried to rescue the concept by combining clinical risk factors plus low/medium/high polygenic risk. As a pragmatic approach this may work for some diseases but it will not explain any genetic pathhway.

More recently Richardson et al. tried another approach using the UK Biobank data where they analysed 162 PRS and 551 heritable traits from 334,398 individuals. Using their web application for my search term “asthma” I did not find anything useful that hasn’t been known for ages.

Jan 15, 2020 http://mrcieu.mrsoftware.org/PRS_atlas

So lets have a look at an example published last November in Cell “Screening Human Embryos for Polygenic Traits Has Limited Utility”. The outcome is sobering: If an IVF embryo would be profiled with polygenic scores for traits such as height or IQ

the top-scoring embryo is expected to be about 2.5 cm or about 2.5 IQ points above the average. The adult trait value of the top-scoring embryo would remain widely distributed.

I wouldn’t have even run this analysis for being pointless.

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Philosophy

On risk taking

Here is a recent interview transcript of Bruce Beutler

JCI: Would you advise any of your trainees to have the same drive and motivation you did to go after one singular problem with the same kind of tenacity that you had?
Beutler: I was often told by people, including by my father, that I was putting all of my eggs in one basket. But I must say in retrospect, if we hadn’t been focused and committed to one problem, we probably wouldn’t have got there. It was risky but I would counsel people to undertake high-risk projects and do them serially, rather than to work in parallel with a number of low-risk projects.

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