Any advice on DNA testing a blood sample from my deceased father?

+6 votes
244 views

Short version: I believe I still have access to a blood sample taken for genetic testing purposes just after my father’s death. How should I proceed to have it tested?

Details: My father died seven years ago. The funeral home offered that they could take a blood sample and send it to a company that would preserve the DNA sample for at least 25 years. I agreed and paid for that service, realizing that it was my last chance to get a sample of that DNA for future analysis.

I recently contacted the company that the funeral home had dealt with (an insurance company, it turns out). They told me they’re no longer in that business but that the laboratory they were using had assumed their responsibilities. The laboratory is Genetic Technologies, Inc., near St. Louis, Missouri. From what I see on the Internet, they seem to be a legit company.

I tested my own Y-DNA with FamilyTree in 2009. At this point, I match about two dozen other Smiths, and I’ve been able to chart a likely mutation history cladogram of those two dozen branches (using Dave Vance’s SAPP program, which I highly recommend – see http://www.jdvtools.com/SAPP/). So I don’t think Y-DNA testing of my father’s sample will yield any new information.

Earlier this year, I did autosomal testing with FamilyTree. I’d like also to test my father’s autosomal DNA and to maximize the number of potential matches. Each of my father’s four grandparents was born in England (one great-grandmother was born on the Isle of Man), so I would want to try to match against as many Englanders as possible. My thinking is it would be ideal to test with Ancestry and then transfer the data to GEDMatch and perhaps FamilyTree, as well.

I have not yet contacted Ancestry or the laboratory about the logistics of having an autosomal test done. Does anyone know whether Ancestry will test a blood sample from a deceased person? If not, do you know of other companies that can do so and produce GEDMatch-compatible data? Are there other options that haven’t occurred to me?

WikiTree profile: Brian Smith
in Genealogy Help by Peter Smith G2G Crew (950 points)
edited by Ellen Smith

5 Answers

+8 votes
 
Best answer

Peter, first up, best of luck. If you have patience and money, you will have options. But the requirement is atypical for genealogical purposes, and the options may not be readily apparent. You're correct on two points, though: AncestryDNA can't help in this case, and the yDNA from your dad won't shed much genealogical light that your test can't.

The one thing I would add to what Robynne and Paul said is that one genealogical testing company, Family Tree DNA, possibly shouldn't be ruled out immediately. The company that owns FTDNA is Gene by Gene, Ltd. (the holding company formed in 2012): same administrative offices in Houston, and they use the same lab, the Genomics Research Center, built by FTDNA circa 2007. By around 2009, all of FTDNA's testing had moved to this lab; it's the one where tours are provided in conjunction with the annual FTDNA conference.

Ancestry/genealogical testing is done under the auspices of FTDNA, but the lab, through Gene by Gene, also provides testing for clinical and research purposes, including whole exome sequencing (which you don't want) and whole genome sequencing (which you might want). The latter is performed by the lab only from a 3cc-5cc blood sample.

The full-genome sequencing ain't cheap: about $3,000...which is still less than a third the cost from just a few years ago. It can be had for less via other sources, but none (to my knowledge) are done at a lab and by a company that is also a major player in genealogy testing. The testing resolution averages 30x, which about standard, and the results are provided as a raw data file (the type known as "fastq," specifically).

For genealogy, we may never get to the point of standardizing on full-genome sequencing because the data files are huge and therefore are not easy to compare for matching purposes without a big-time upgrade in currently available IT architecture and infrastructure, and because a vast majority of the genome isn't very useful for genealogy: all humans' DNA is over 99% identical. But everything we currently test for genealogy--plus what we might add to test in the future--will be in that full-genome sequence.

The current genealogy tests look at certain sets of loci along the genomic map where SNPs (single nucleotide polymorphisms) of interest are known to occur...these are pinpoints of variability that include locations on the chromosomes where geneticists think much of that less-than-1% difference among humans can be found. The loci are uniquely keyed to the map of the human genome by what are called reference clusters, or "reference sequence IDs." If you open up the raw text file of a current genealogy DNA test, the column you see with all the digits prefaced by the letters "rs" are these map identifiers of the particular locus tested. For example, rs4477212 may be one of the very first ones shown on that list of over 600,000 lines (depending on the testing chip used) because it's near the very start of Chromosome 1 at base pair number 82,154 (in build 37.1).

Point being that if you have a couple of billion of a person's DNA base pair "letters" identified, you can create the subset of about 600,000 letters that could then be formed into a valid "kit" that can be uploaded to GEDmatch, FTDNA, MyHeritage, or elsewhere. This is somewhat analogous to what we've been seeing in the news regarding some of the recent cold-case solutions using "forensic genealogy": the unknown perp never took an AncestryDNA test looking for cousins, but forensic DNA data taken at the crime scene can be translated and formed into a "pseudo-kit" for uploading to GEDmatch, for example.

Since the same lab and same company does both types of testing, it might be worth looking into full-genome sequencing from Gene by Gene: https://www.genebygene.com/pages/research. At the very least, it may be worth a phone call to explain what you need, and to see if they have a mechanism to translate that whole genome data into a subset that can be the equivalent of an FTDNA Family Finder test. I've never personally dealt with the specific situation, but something tells me it wouldn't be the first time they or Dr. Rachel Beddard, director of the Genomics Research Center, have encountered similar inquiries.

by Edison Williams G2G6 Pilot (229k points)
selected by Gary Nicholson
Thanks! I plan to explore the options, though I probably won't have sufficient time or focus this week, with other things going on.
If it's too expensive now, I can expect the price to go down over the next several years. And I've already waited seven years (primarily because I hadn't familiarized myself with autosomal testing).
+4 votes
I'm sorry but blood samples are never used in the Commercial DNA companies (Ancestry, 23 & me, FT DNA and My Heritage) so your father's blood is not terribly useful for DNA matches or for Ethnicity Estimate purposes.

Those companies mentioned above use either Spit samples or Cheek swabs.

The best person to have tested on your fathers side would be one of his brothers or a male 1st cousin descended from one of your fathers brothers. That would give you your YDNA haplogroup since you and the uncle (or the first cousin) would come from the same paternal group.
by Robynne Lozier G2G6 Pilot (722k points)
Thanks! I suspected that Ancestry would not be set up to do it, but hadn't read anything definitive from them.
+3 votes
My guess would be that Genetic Technologies themselves would be your best place to start. Seems to be basically what they do. The question is whether or not they can produce the output format that you want. I'd also guess it's not going to be inexpensive. I'd say it's worth a phone call anyway.

I wouldn't bother contacting any of the genealogical testing companies since they most likely aren't setup to use blood samples and it involves a whole different set of procedures.

I'd be interested to know how it turns out for you.
by Paul Chisarik G2G6 Mach 1 (14.5k points)
Yes, I will follow up with them. I was asking here first to get the lay of the land, see what other options I have before they try to sell me on something.
According to their website Genetic Technologies does something they call a relatedness test. I'd guess there's a good chance this will give you what you're looking for. The list price is $265.
+2 votes
They do FORENSIC DNA.  They would need to be able to output a file that would be compatible with what GedMatch can upload.  I think you will need to call them and ask them if they can do that.  If not, find out what kind of reports they provide and if they can send you a sample.   

I suspect this is not the kind of test that is compatible with what we do in genealogy but am not 100% positive of that.  I live in the St Louis area. Feel free to contact me if you need a local to interface with them for you.
by Laura Bozzay G2G6 Pilot (588k points)
Thanks! I can probably handle it myself -- though if they wanted to charge me an arm and a leg just to transfer custody of the DNA sample, it might be useful to have someone local.
+1 vote
They probably are able to do testing to determine parentage. With that kind of test, they will still get test results on the chromosomes and hopefully get results that can be translated into something useful for genealogical purposes.  They are probably less likely to test for yDNA purposes.  And I agree that it will probably be much more expensive than your standard autosomal test, but...it might be worth it.
by Edie Kohutek G2G6 Mach 6 (69.5k points)

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