this post was submitted on 22 Jul 2024
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New research into the 'exomes' of over 44,000 people uncovered many with cancer-causing genes that were otherwise not detected

The mutations were linked to heightened risks for colon, breast and ovarian cancers

People from minority groups may be especially prone to missing out on quality genetic screening

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[–] SolarMonkey 2 points 4 months ago

I wonder if this means that people who have already undergone genetic screening should do it again, or if the sample was sequenced fully enough to just report further findings to you like they do when they learn what an unknown mutation does.

I went through testing some 12 years ago or so and all my known genes are clean but this could change that substantially. I guess I’ll see if I can track down the company that did it and see what the recommendation is going to be, once that becomes slightly more clear.

[–] fraksken@infosec.pub 2 points 4 months ago

Worth mentioning the human reference genome.

There are known problems for non-white people. There are plenty of resources online about it, here's my first hit on ddg.