[teekert]

One example: Homologous Recombination Deficiency, the signature it leaves genome-wide and the associated sensitivity to PARP inhibitors.

But agreed, it is about time we start to understand regulatory regions better. But that will require gathering more WGS data, and indeed most data is Whole Exome or Panel.

[dekhn]

Research project, not actionable human health. I fully support large-scale WGS projects and hope that some day one of them will have a recognizable impact.

[samchorlton]

I don't know about this specific example, but DNA sequencing is already routinely used for personalized oncology therapeutics outside of clinical trials, so not really research project.

Source: Am MD and practice laboratory medicine.

[dekhn]

Sure. Doctors love to try new technologies. most of the reports of success are happy narratives, not evidence based medicine.

[et2o]

There are hundreds of clinical trials and it’s used today in clinical practice, most commonly in oncology but more and more in other fields. Very interesting work in polygenic risk prediction models in many kinds of chronic disease, where risk models can refine treatment strategies. It’s very real; one of the big problems so far has been reimbursement and commercialization.

The other thing you have to realize is that because of the regulatory burden, it takes a while for these tools to make it into practice. Many of the successful genetic tests today were approved 20 years ago. Look up Oncotype Dx which is used in a huge % of breast cancer surgery, for example. WGS and WES will undoubtedly be far superior but it takes a while to get these things into practice.

[samchorlton]

Except when it makes it into guidelines written by groups of experts aggregating evidence. I can't copy due to copyright but hope you can find the content past paywall or peruse the citations: https://www.uptodate.com/contents/next-generation-dna-sequen...