How important is an accurate family medical history?

[MissTake]

@naita

Do they really want to risk the kid taking a DNA-test for fun, or because they think 23andMe’s health advice is worth it, and discover that they only match cousins on one side of the family? If they find having the conversation now is awkward and may cause issues, imagine having it because the kid finds it out on their own at 34!

FWIW, the 23andme health advice is not always correct. My half sister took it, said she doesn’t carry the gene for polycystic kidney disease. When she tested to see if she could donate a kidney to me, found out she in fact DOES have the stupid disease.

Like other posters, I am also adopted. I took to carrying a red sharpie to write in bold letters across the “Family History” questionnaire “AM ADOPTED - NO INFORMATION”, not that it stopped medical professionals from asking. My life would’ve been different if I had known one of my bio-parents had PKD. I could’ve done many things that mayhaps would have prevented kidney failure. I guess I look at it as “it is what it is”.

[naita]

@MissTake

FWIW, the 23andme health advice is not always correct. My half sister took it, said she doesn’t carry the gene for polycystic kidney disease. When she tested to see if she could donate a kidney to me, found out she in fact DOES have the stupid disease.

I don’t think anyone should do a 23andMe-test for the health advice. They are a for profit company selling analyses that wont be good medical science or, more likely, refuted medical science, for many years yet. Some of the individual SNPs might be important, but we don’t know now.

And as you say, even for the genes we do know are important, they make mistake, because they’re a cheap mass market product, not a part of the medical system.

But wanting the health advice, or ethnicity guesswork, or cousin matching, might lead someone to discover their parents are idiots who think it makes sense to try to keep their genetic heritage a secret.

[md2000]

@needscoffee

So your grandfather and great-uncles did not have congenital heart disease, they had scarlet fever. That is their history. You did not demonstrate what you think you demonstrated.

Yes I did. I showed that unless that little detail about childhood disease is passed on too, someone may assume genetic factors where they are in fact environmental. I think the fact came out when my dad went to Grandpa’s funeral - or maybe his uncle’s.

[needscoffee]

@md2000

Yes I did. I showed that unless that little detail about childhood disease is passed on too, someone may assume genetic factors where they are in fact environmental. I think the fact came out when my dad went to Grandpa’s funeral - or maybe his uncle’s.

So if you’re given an incomplete medical history which leaves out vital information, it may not be useful. No argument with that.

[needscoffee]

@bump

I think doctors use it as one more piece of data, primarily for diagnostic purposes. That’s not to say that they’ll say “Oh, your grandparents and parents all had gallbladder problems, so that must be your issue.” without doing their due diligence, but it gives them a direction to start looking in.

Or, if it’s one of those diseases where there’s a “tendency” toward something, they can start looking earlier, or treating you more aggressively. For example, men in my family seem to get hypertension around 35, regardless of physical shape, smoking, etc… Knowing something like that, a doctor could start ordering quarterly BP checks for men in my family when we turn say… 32, and get us medicated as early as possible, instead of waiting until (if) we show symptoms, or randomly catch it on a physical, at the dentist, etc…

Yes, of course, mine was a rhetorical question. Sometimes the info is vital, sometimes it’s just a piece of the whole picture.

[Mama_Zappa]

A couple anecdotes from my personal life:

About 2 years back, my daughter saw an ophthalmologist to follow up on an incidental finding on a brain MRI (the report suggested she might have a staphyloma, which is an eye bulge associated with extreme nearsightedness). The ophth said “no staphyloma, but elevated optic disc” and said “might be too-high spinal fluid pressure, see a neuro, you probably need a spinal tap” (as this scenario could actually be rather dangerous - conceivably a symptom of a brain tumor or simply pseudotumor).

As the daughter was in transit, and her neurologist was out-of-pocket temporarily, we were somewhat frantically trying to arrange for her to see someone in her new town.

I had a copy of the report with me when I saw my own ophthalmologist, showed it to her, and said “she’s not your patient of course, but can you translate this for me?”. She basically concurred that my daughter should see someone, specifically a neuro-ophthalmologist if we could find one. She didn’t seem too worried about it being URGENT SEE DOCTOR NOW.

Then 10 minutes later, she said “You know, you have benign drusen - nothing to worry about. That often runs in families - and it can look like an elevated optical disc. Make sure whomever she sees knows about that.”.

End result: she did finally see a neurologist (for the issue that triggered the brain MRI) and then the neuro-ophthalmologist. The “elevated optic disc” had either resolved (it can be a transient thing) or was deemed to be just what my doc suggested: drusen mimicking it.

And possibly related: When I was about 7, my oldest brother went through a rough time including a hospitalization and a spinal tap - because something spotted incidentally on an eye exam was suggestive of a brain tumor. I don’t know how long it took them to say “hey, let’s look at family members”. My mother had the same findings - “blurring” was the word my brother used. Problem. Solved. Mom claimed that the doctor looked at the rest of the family also - I have no memory of that, and my brother says it was just Mom that got checked. I suspect the “blurring” was basically the same thing they observed in my daughter (and me).

But in any case, knowing something about the family history could have saved my brother a lot of misery, and DID reassure my daughter. I’m still stunned that my brother’s doctor didn’t recall in time that maybe he ought to check the family to see if this was something benign.

Now, both my parents died from cancer. Not relevant to me (dad had prostate cancer, mom had lung cancer related to smoking) but VERY relevant to my brother: he was diagnosed with prostate cancer a year or so back, and due to the history, his treatment was more aggressive vs the “you’ll die WITH it, not OF it” attitude that sent Dad onto the next plane of existence earlier than expected. I will make sure both my kids know about my father, for sure.

Re the OP’s friend: Well, the truth is that a lot of people will have spotty family histories. And an egg donor / sperm donor might well gloss over some aspects of history, either through ignorance of them, or thinking “not relevant, and if I say so it’ll get me banned from donating”. If the friends DO know anything of the history, maybe the kid could be informed in a vague way e.g. “I think I had a cousin who had xyz disease”.