Can medical DNA test be used for genealogy?

+12 votes
I have several potential family members who have done medical DNA testing. I have a definite relative who also has testing underway. Can I use this information to help confirm relationships? What test would I do to get a confirmed relationship with them? Autosomal I presume but I am not in the US so does this mean 23&me can provide useful data for me? Or is it all a red herring for genealogy?
WikiTree profile: Space:DNA_and_Adoption
in The Tree House by Lynlee OKeeffe G2G6 Mach 1 (16.4k points)
My situation falls in the vein but with a twist.

My mother had surgery before her death and that particular lab maintains samples for 10 years. (That's 3 years beyond the mandatory period.) She wasn't able to generate the saliva for Oral swab normally tested.

But the other postings were right. The lab tested for specific markers related to diagnostics and suitability for enrollment in a treatment program. So I'd like to arrange genealogy oriented testing of the medical sample... before it is destroyed as medical waste.

Everything I've read suggests the genealogy DNA service refuse to test blood or tissue. The lab will run the tests... but at medical lab rates!!!  

This is a question others should ask if they've lost parents who had surgery within the last 7 years.  But it is time sensitive.

6 Answers

+1 vote
It likely would not be worth the effort and cost.
by Peter Roberts G2G6 Pilot (524k points)
+7 votes
The tests have already been done and I have access to the results. The question is, can the freely available data from the medical tests be used, and if so which of the genealogy test sites might be most useful. Or do we have to pay now for a whole other set of tests?
by Lynlee OKeeffe G2G6 Mach 1 (16.4k points)
What sort of medical tests are you referring to?  Most only test a few SNPS depending on the test.  Autosomal DNA testing sequences about 700,000 SNPs.
You should pay for additional DNA tests for genealogy (eg. Y-DNA37, mtDNAPlus -both from Family Tree DNA, autosomal DNA tests (which include X-DNA) via Family Finder -from Family Tree DNA, or AncestryDNA or 23andMe).
+7 votes
I think your question is an important one, if I understand it.

I am really curious if the "Medical DNA Testing" you are referring to is the 23andme testing to produce the FDA approved medical reports.

All the 23andme Corporate public statements and their tv/cable advertising/interviews indicates the primary reason for DNA Testing is primarily Your Health. Your Ancestry is used in this context.

If you only looked at these sources, you would not know that their Personal Genome Service was useful to a genealogist.

I have received about a dozen emails from DNA Cousins that didn't know that AncestryDNA/23andme found DNA Relatives.  They did it because of the Health(23andme) or Ancestry Composition(AncestryDNA and 23andme).

If this is true, then I would say the answer is yes
by Ken Sargent G2G6 Mach 5 (56.6k points)
Great answer Ken and Peter and Karin.

My gut tells me that if you want to know the answer to that specific question, you will want to contact 23andMe and ask them that question. Then post their answer to you here so we all know what they say.

Also, as Peter said it, would be helpful is you could get several tests done, though they can be expensive. If 23andMe has the capability to upgrade your sample test to include an auDNA or any of the other tests that would be great!

Let us know what you find out Lynlee!

The medical tests are from a hospital. If it was a 23 & Me, the answer (for me) would have been self evident. I have a Grandson who has some odd physical attributes at birth and he has had blood sent to the UK for a medical project. I also discover that there are people in the family of the guy who seems to be my brother who have a know issue with a specific gene and there are only 34 in the world known to have this. None of these have been done through commercial genealogy sites, hence my question: Is there a way to use medical information to compare with the commercial ones??
I am sure I am not the only one with this type of question,yet there is no real data on this from any of the sales web pages, but then they just want you to buy their kits.
Obviously if Grandson comes back with the SAME issue, it will be confirmed in my mind.
Then I have no idea about sending your raw data from a medical institute to Genealogical testing site. I am no help. Mags
There is not a way to use this medical information to compare with the commercial ones.
From what you say, I presume that the medical testing done just looked at specific genes to find mutations that would affect any diagnosis.  For genealogical purposes a full autosomal test should be done. 23andMe (currently $149), FTDNA Family Finder (currently $89) and/or AncestryDNA (currently $89) would be your choices.  We usually recommend AncestryDNA first and then transfer the results to FTDNA (for $39) to get into as many databases as possible. Then if funds allow do 23andMe also. AncestryDNA does not provide a chromosome browser to see your segment matches so it leaves a lot to be desired when doing triangulation.  That is why we recommend transferring your raw data to FTDNA, as well as getting more bang for your buck. FTDNA is the only company that accepts full autosomal raw data transfers.

A word on mtDNA.  We have found that even doing a full sequence of mtDNA can go well beyond any recent (400+ yrs) genealogical matching.  It can be very ancient, 1,000's of years, and is often not helpful in finding genealogical connections. mtDNA is your direct maternal line only. And Y-DNA is a male's direct paternal line.

It seems to me that if you know the "specific gene and there are only 34 in the world known to have this", there would be some useful value if 23andme or the other DNA Services tested for that specific gene. 

I realize there are a lot if "if's", but if 23andme tests the gene values that are also being tested at another project, then IMO, would be of genealogical interest to be able to trace the history of this particular gene.  

You may want to contact 23andme and see if you, or your cousins, qualify for a free kit. I have had a few cousins tell me that they had some rare genetic condition, and the kit's were free.  They didn't even know about DNA Relatives.  They were surprised when they were first contacted by their DNA Cousins.

If you or anyone needs me to look up a particular gene at 23andme, just contact me and I will look it up and see what it tests for.

Regarding mtDNA.... There are many mistakes with direct maternal lines.  These errors are clearly revealed with mtDNA results.  For example see whose mtDNA does not match the three others who belong to this direct maternal line.  His direct maternal line will be detached when more evidence is provided to determine in which generation the error likely resides.

A full sequence mtDNA test is often unnecessary.

Sincerely, Peter
+5 votes
I have the same question about adding Medical a Sibling test. In 2002 I had DNA Diagnostic Center perform tests on me and my three children. Unfortunately I am now disabled and cannot afford taking any DNA test.

I will go to 23&me to see if they can help but if anyone else can let me know what I can do it would be greatly appreciated.

by Anonymous McDonald G2G Crew (970 points)
Hi Melissa!  If you want to test at I have a kit I could donate to you.  Just send me your physical address at my email address: and I'll put one in the mail.
+2 votes
As a genetic genealogist and a nurse, I can state that any medical DNA tests done through a medical facility doesn't examine what an autosomal DNA test looks for in determining relationships. 23andme is excellent for their medical analysis along with the autosomal DNA testing.  However, if you want to get the best bang for your money, my opinion is that ancestry's autosomal DNA test is the best one to have done.  That's because ancestry has the largest database of people taking the test.  On the other hand, if you are a male, I would suggest FTDNA because it analyzes the Y chromosome if you elect that test.  The VERY best scenario is to take  autosomal  DNA testing with all three companies. ancestry, 23andme and FTDNA.

Just my two cent'worth.
+2 votes
As a nurse and genetic genealogist, I can state with confidence that any tests taken through a medical facility can NOT be used to determine relationships.  

In a perfect scenario, I would encourage your to have all three companies' autosomal DNA testing; ancestry because it has the largest data base of people who have taken the test (that's always my first recommendation); FTDNA if you are a male-you would choose to also have the YDNA testing of your y chromosome (FTDNA has matches on that) and 23andme for their medical testing (most people I have spoken to about 23andme so not find that company very helpful insofar as relationships go.

If you are wanting to keep costs down, I would recommend taking the ancestry autosomal DNA test.

Happy Hunting.
by Saro Genova G2G5 (5.1k points)

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