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Brain_Hawk t1_jc4ikrt wrote

I'm not calling it worthless, because these gene association studies are important, but it's a long way from paving the way to new treatments.

Most genetic associations are very weak and do not point to pathways of treatment. If they did we would be doing better with a lot of disorders.

News wants flashy headlines and dramatic progress. Real science is hard and painstaking grinding work.

But it gets there eventually.

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DrCunningLinguistPhD t1_jc57ozf wrote

So you didn’t read the paper? The study found genes that could be drug targets to treat both endometriosis and epithelial ovarian cancer.

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Brain_Hawk t1_jc58ayp wrote

"Identified signals explained up to 5.01% of disease variance "

I'm not going to read a whole genetics paper. I'm not saying it's bad research, this sort of work is important. But it is often oversold. They identified a candidate set of genes using a large publicly available data set, which often has minimal patient specific information on most disorders. I should have read more of the abstract but I stopped, I'm pretty sure they ran a gwas. Those identify associations but not causes. They're an important start point, but it's a very far lead from identifying. Some genes that are related to is disorder with a relatively small effect size and to building a treatment target that has any widespread application

I'm not stating any objection to what the researchers did, but I have a long standing objection to results like this being massively oversold both in the media and by the scientists themselves. It's very tempting, especially if you get a splash in nature paper. But it builds a lot of false hope, and it's unlikely that any of these candidate genes will see clinical trials and the next 10 years if ever

The most positive outcome for these papers, In my not too humble opinion , is that the identify potential targets for future more directed studies, they can examine the association with those specific genes with that disorder in detail

Edit: Happy the abstract says that too, more targeted studies are needed to confirm and better understand these associations

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fanghornegghorn t1_jc6h4c6 wrote

Genetics studies are just theory. A way to do science that means nothing and helps no one for a long time.

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Brain_Hawk t1_jc7owh4 wrote

Well, there is an emerging field called pharmacogenetics where certain gene characteristics are related to the efficacy or more likely the side effect profile of different medications. There are attempts to bring this into clinical practice, where people can be screened for certain genes which would indicate the potential for more severe side effects for a certain medication, suggesting an alternative should be pursued instead. It's still new, so it's still under development, but it's being done in some research context and will probably be pretty common in about 10 or 15 years

I'll research is difficult and takes a long time and hard work. Very little research helps anybody except for in a long time. But then suddenly it does help, often in dramatic and life-changing ways. But science is hard, and implementation is one of the hardest parts

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TTigerLilyx t1_jc8yu76 wrote

Absolutely wonderful breakthru.

Tho when I did the testing, it was called pharmagenomics.

Im a pretty self aware person, so this test verified what I had mostly figured out for myself over my lifetime as to what drugs i could or couldn’t take. My family’s problems with anesthesia & pain meds, specifically.

Im sure it was wildly expensive, but my Dr somehow got it cleared and Im about to try & get it run for my son, who has some ailments that they’re having a terrible time finding drugs that don’t have severe side effects for him. This is the future and one of the biggest advances no one is talking about.

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