(20)23 and Me (and my kids)

June 2, 2023 2:52 AM

DNA testing filter - what's the current / future value of medical info that can now be extracted from consumer test services, in the context of a complete lack of 50% of family medical history ?

I've read useful relatively recent posts on the privacy aspect and how to extract medical info from a test.

My snowflake situation is that I have zero knowledge about medical history or health outcomes for the entirety of my biological father's side, and zero prospect / desire to find out about it in any more direct manner.

Other than my mother, my closest living relatives on the other side are half-cousins.

My mother's maternal family comes from a more isolated than usual population - think island community with a population in the low 10s of thousands up to ≈ a century ago.

I'm a 41 year old father of 2 kids age 5 and 8. I have no particular current health problems, nor do the kids, although the youngest does have an atypical neurological condition (agenesis of the corpus callosum) which can (but can often not) have a genetic cause. My wife and I were tested when this was discovered before her birth for specific markers related to this (and this only), and results came back negative.

I'd always been happily unconcerned knowing nothing about my biological father and his family, but in the past ≈ 2 years my (step, biologically) father and my wife's (biological) father both died rather suddenly. This and other middle-aged life stress events have highlighted the ol' march of time and made me question whether I'm doing myself and the kids a disservice by not getting some insight into those "missing" nucleotides and what they could mean for our health in the future.

Any info on the practical state of what can / could be determined in 2023, how the perspective on what can be gleaned from the data might be changed by the lack of family history... or any insight / experience on the emotional side of the subject... all would be much appreciated.

posted by protorp to Health & Fitness (3 answers total)

So last year, after having done one of the big commercial companies kits and getting some weird results, I helped my wife do some genealogy research which uncovered the truth that her father was in fact not her biological father.

Besides all the emotional/family issues around that revelation were also medical ones given that all her life she had been telling Dr's that there was really no history of breast cancer (or similar type things) that ran in her family, but she learned once she tracked down bio-father that there actually was which has lead to recommendations of further medical genetic testing as well as an increased screening schedule.

I know its just one story and your millage may vary but she never would of know had she not done the test kit and decided to look into it further so just the family history/family tree side of things can be helpful even if and specific genetic marker tests don't show anything.
posted by Captain_Science at 5:08 AM on June 2, 2023

There are at least a few things it can turn up that are potentially important/actionable. I know someone who was diagnosed with hemochromatosis after getting a consumer test that showed a genetic predisposition to it. He had been having nonspecific symptoms like fatigue, but hadn’t ever had iron/ferritin tested previously.

On the emotional/anxiety side, 23andme reports on the APOE4 variant, which is associated with greater risk for Alzheimer’s disease. My grandmother had Alzheimer’s and although I found out through the test that I don’t have the APOE4 gene, it was stressful thinking about it and waiting for it. Since it’s only one factor among many, and it’s not particularly actionable, I might have opted out of that particular result if I was doing the test now
posted by scorpion proof at 7:41 AM on June 2, 2023

I am a doctor. I don’t have numbers, this is a vibe. I don’t, generally, think there’s enough useful medical information in off the shelf gene tests to justify their use in the way you describe. Family history is often one of those things that is kind of helpful, occasionally it makes a material difference in our plan. Genetic screening is not the same as a history because there is a huge gap in our comprehensive understanding of disease, and relatively few things are one gene = one problem.
posted by chiquitita at 7:07 PM on June 3, 2023