TGMI Spring update – phenotyping roundup


The long weekend is a good time to catch up on some reading, so we wanted to draw your attention to some recent #TGMIFriday blog posts. You might have noticed that we’ve published quite a few posts about phenotyping recently. Some older posts also tie in neatly with this topic, so below is a summary of TGMI posts on phenotyping.

 

Phenotyping in the genomics era

Historically, a genetic test would be carried out after a diagnosis based on disease phenotype. But we’re currently at a point where we’re changing direction in genetic testing. We now often know a genotype before the associated phenotype becomes clear. For example, people might have done a direct-to-consumer test and discovered that they have a disease-related genetic variant. Early genetic diagnosis can help people take preventive action, but it can also be a source of confirmation bias: When the genotype is known, do you expect to find a phenotype to match?

One thing that could prevent this kind of bias is if we treated phenotyping very systematically and standardized phenotype data. This would also make it easier to search the scientific literature for gene-disease links, and eventually build databases to sort through that information.

At the moment, we still do phenotyping the same way as always, since long before genetic tests became common. To adapt to the changing times, we will need a massive expansion of phenotyping to match the rapid growth in genetic data.

 

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