Testing Artifacts to Obtain DNA Evidence for Genealogical Research

UPDATES:

• December 2, 2018 Update from totheletterDNA (via their FB page) – there are 48 samples extracted and ready for genotyping. There are also 150 new samples undergoing extraction this coming week. All extracted samples will be genotyped before Christmas. Turnaround times should be improved moving forward due to having a “more streamlined process in place.”
• November 18, 2018 Update – DNA was found in every sample analyzed, with the oldest being from 1930. All samples are being run through a second extraction method at the Garvan Institute of Medical Research, after which there will be quality checks of the extraction. Samples that went through two extraction methods will be genotyped twice, once for each method/sample.

Links to Other Blog Posts:

• “How to Preserve and Test Old Letters for Grandma’s DNA” by Denise Levenick at The Family Curator
• “Artifact testing on its way” by Judy Russell at The Legal Genealogist
• “How to Test Your DNA (Even if You’ve Had a Stem Cell Transplant” by Brianne Kirkpatrick at WatershedDNA
• “Are you a lick away from Granny’s DNA? Forensic DNA For Genealogy ~ Artifact Testing” by Cherie Lynn at Cherie Lynn’s Herstory

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ORIGINAL ARTICLE:

Artifact testing promises to be an interesting component of the future DNA evidence and genealogy. If we can obtain and reliably identify DNA from deceased ancestors, relatives, or other individuals, we might be able to enrich our genealogical research.

For years I’ve been telling people that there is an enormous untapped market for artifact testing, and that they should hold on to their artifacts because a company will arise to offer this service. I typically follow that up by telling them NOT to literally “hold on to their artifacts” because I don’t want them to contaminate them! But seriously, there are many thousands, potentially millions, of artifacts that could possess DNA from long-dead individuals.

Much to my surprise, the DNA testing companies may be getting in on the action. At the first MyHeritage LIVE conference in Oslo on November 3, MyHeritage announced that they would be offering DNA extraction services for envelopes and stamps, and that the extracted DNA would be added to the MyHeritage database as a kit for that ancestor. For more about this announcement, see “MyHeritage LIVE 2018 Day 1 Photos, Details and Party” and “Artifact testing on its way.”

Earlier this year, The Family Curator Denise Levenick wrote “How to Preserve and Test Old Letters for Grandma’s DNA” which discusses storage of items that might be suitable for artifact testing. She also discusses Living DNA and a possible artifact testing service: “I asked David Nicholson, Managing Director of Living DNA, if extracting and testing DNA samples from old letters or postage stamps would be available to the general public and he confirmed that this service would be widely available by the end of 2018 at a cost of $1,000-$2,500.” Read the post to learn more, including great tips about STORING your artifact safely!

What Artifacts Might be Useful?

The most obvious artifacts are going to be those likely to have good DNA and are easily processed. Envelopes or postcards with licked seals and/or stamps are among the best, as the saliva is likely to contain DNA and the paper can be easily processed.

There are potentially many other types of artifacts that could be used, including hairbrushes (as they’ll have hair with roots), toothbrushes, rings, hat brims, and anything else that might pick up skin cells.

But what about the inevitable HAIR? Unfortunately, most hair samples were cut rather than pulled out with roots, and thus are likely to only contain mtDNA. While I never say never when it comes to DNA, hair cuttings and wreaths are likely to not be useful for autosomal DNA testing. Hair that was pulled out, such as in a hairbrush, could be perfect for testing.

This is Egbert Albro (1851-1922), my great-great-great-uncle, and a lock of his hair. Unfortunately for me (but fortunately for him!), the hair was cut rather than pulled out, and this is unlikely to possess any of his autosomal DNA.

Although hair cuttings are going to be problematic, there are potentially many useful artifacts that could be used as these services continue to expand.

totheletter DNA – An Artifact Testing Company

One of the first commercial DNA artifact tests for genealogy is from an Australian company called totheletter DNA (https://www.totheletterdna.com/). The company is focused on testing envelopes and stamps.

The cost of testing is currently $781.50 and is broken down as follows in Australian dollars:

• extraction @ $140 (not refundable)
• genotyping @ $621.50 (refunded if no useable DNA)
• return of sample via registered post @ $20 (not refundable)
• return of DNA file via USB (optional – included in price)
• upload to GEDmatch Genesis database (optional – included in price)

Before considering a test, be sure to read the Envelopes FAQs.

Before placing an order, totheletter DNA instructs you to “send a photo of the front and back of the envelope, postcard or aerogramme to [email protected] for review.” They will then review the images to determine whether there are any problems, and will send you an email with the assessment.

If extraction is successful the DNA will then be genotyped using a SNP chip similar or identical to the chips that the testing companies use. You can receive the raw data file via USB or digital transfer as you see fit. That data can be uploaded to GEDmatch Genesis by you or totheletter DNA for matching and ethnicity analysis.

HERE is the purchase page also with lots of information. And be sure to review the totheletterDNA Terms and Conditions! There is a TON of information on the totheletter DNA website about the process, so be sure to dig around the site. Here are links to most of the relevant pages, in an order I think is most logical:

• Who and Why – who is behind totheletter DNA, and what is the purpose of the service?
• The Envelopes and DNA Testing and the Envelopes FAQ pages – plenty of information about what you should be looking for and expect
• Genetic Genealogy – why do artifact testing?
• Buy – to purchase an extraction
• The Terms and Conditions

I currently have two samples processing with totheletter DNA, each of which I’ll discuss below.

The GSA (Global Screening Array) SNP Chip Used by totheletter DNA

According to the totheletter DNA (Envelopes FAQ) site, they are using the new GSA SNP chip:

“We genotype the DNA using Illumina’s Global Screening Array (GSA). This is often referred to as the “V5” chip in genealogy terms, based on Build 37.”

I’m not certain, but I doubt the GSA chip has been customized (as it is for 23andMe). Accordingly, I don’t think it will include Y-DNA and mtDNA SNPs, but hopefully others with more information about uncustomized GSA chips can provide a comment below.

EDIT (20 November 2018): totheletter DNA uses Illumina’s default GSA chip, which has has 1,180 mtDNA markers and 4,964 Y-chromosome markers. So if genotyping is successful, the raw data file may contain very useful Y-DNA and mtDNA information! For specifics about the GSA chip, see: https://www.illumina.com/content/dam/illumina-marketing/documents/products/datasheets/infinium-commercial-gsa-data-sheet-370-2016-016.pdf

For more about the GSA chip as it pertains to genealogy, see Debbie Kennett’s post (“23andMe launch a new v5 chip and revise their health and trait offerings in the UK“).

The Cost of totheletter DNA Extraction and Testing Services

As detailed above, the current cost of extraction and genotyping by totheletter DNA is $781.50 Australian (currently about $585 USD depending on exchange rates).

Many have expressed an interest in engaging these services with a hope that the prices will go down. Personally, I do not expect the prices to diminish significantly in the near future.

We’ve been a bit spoiled by the testing companies, which operate on a thin margin (sometimes losing money because DNA testing gets people in the door and they have other services to sell), and which use automation to process samples. For example, a single lab tech at AncestryDNA can load a robot with hundreds or thousands of samples with minimal effort. Every sample is processed exactly the same way because every sample is exactly the same.

Obviously, that will never be the case with artifact DNA. Every artifact is different and must be individually analyzed and processed by a lab tech. Although the process can be scaled by adding more lab techs, it will be challenging to scale by finding ways for the same lab tech to process more samples. The process will become vastly more efficient as methodologies are solidified and practiced, but it is unlikely to significantly reduce prices in the near future.

When it comes to DNA, we learned long ago to never say never. Five, ten, or twenty years from now, artifact testing might be a breeze and very affordable.  And with MyHeritage possibly getting in the artifact testing game, they may be able to subsidize pricing. But I do expect prices to be significantly higher than standard genotyping for the foreseeable future.

Sample #1 – My Great-Grandmother’s Envelope

The first extraction was purchased on October 13, 2018 for a total of $736.50 AU (USD $526.03). The sample (shown and discussed below) was mailed on a rush via USPS on October 15th and arrived at the destination in Australia on October 22nd.

The envelope is postmarked the afternoon of 9 July 1970, making the DNA about 48 years old. This letter was written by my great-grandmother to her future granddaughter-in-law, my mother. It was mailed from one spot in New York to another location in New York, and was in the granddaughter-in-law’s possession for the next ~45 years until I received it. It has been stored relatively cool and dry, without any known damaging events. The entire section in the image was removed from the envelope and sent for testing:

On November 19th, 2018, totheletter DNA provided an update via their Facebook page (https://www.facebook.com/totheletterDNA), which includes my sample:

Accordingly, the first sample is currently being processed but at least the first extraction attempt successfully identified DNA. Whether that DNA is able to be genotyped remains to be seen. It is still entirely possible that the DNA is not of sufficient amount or quality to be genotyped successfully.

Sample #2 – Letter in Possession

The second extraction was purchased on November 8, 2018 for a total of $781.50 AU (USD $583.78). The sample (shown and discussed below) was mailed via USPS on November 12th.

The envelope is post marked 25 September 1945, making the DNA about 73 years old. This letter was written by a man from Rochester, New York while he was vacationing in Edmundston, New Brunswick. I don’t have specific information about the provenance or the storage conditions for the artifact for most of its life, but it is physically in good shape. The entire envelope, minus the enclosed letter, was sent for testing.

 

As of this writing (18 November 2018), extraction for this second sample has not yet commenced.

EDIT (27 November 2018): totheletter has received this second sample.

What Next? What Can I Do With the Results?

If totheletter DNA is able to extract and genotype DNA, what happens next? How can we use the results for our genealogical research?

A. Upload the Results to GEDmatch Genesis

The genotyping will create a raw data file just like a testing company’s raw data file. There are several options available according to the FAQ page (https://www.totheletterdna.com/envelopes-faqs/):

“If we extract sufficient DNA, we generate an autosomal DNA raw text file* from the item’s DNA (if not, your remaining payment minus return postage, and payment gateway fees and charges is returned to you). We return the file to you via USB using registered post. We can also send the file via Dropbox, Google Drive, etc if you wish. We can also upload the file to a genealogy database (GEDmatch GENESIS) where you can then look at matches with the DNA file. You can also do this yourself.”

Accordingly, you can receive a copy of your raw data file by hard copy or digital, and you can optionally have the raw data uploaded to GEDmatch Genesis. Genesis is a separate database at GEDmatch, kept separate because the Global Screening Array (GSA) chip from Illumina is not as compatible with other  chips used by the testing companies. Accordingly, GEDmatch is working on algorithms and methodologies to make the GSA chip results compatible. For more about this chip, see Debbie Kennett’s post (“23andMe launch a new v5 chip and revise their health and trait offerings in the UK“).

Be sure to read the GEDmatch Terms and Conditions, which explicitly allow artifact DNA with some restrictions:

“When you upload Raw Data to GEDmatch, you agree that the Raw Data is one of the following…DNA obtained from an artifact (if and only if: (1) you have a reasonable belief that the Raw Data is DNA from a previous owner or user of the artifact rather than from a living individual; and (2) that previous owner or user of the artifact is known to you to be deceased).”

This explicit permission is in stark contrast to the testing company Terms and Conditions, discussed below.

B. Upload the Results to a Testing Company?

Below I look at the Terms & Conditions of Family Tree DNA, Living DNA, and MyHeritage DNA. Since it is not possible to upload DNA to either 23andMe or AncestryDNA, it is not necessary to analyze their Terms & Conditions.

NOTE: THIS IS NOT LEGAL ADVICE. I repeat, THIS IS NOT LEGAL ADVICE. Again, THIS IS NOT LEGAL ADVICE. You are not my client, and I’m am not your attorney. Consult your own attorney – it will be someone other than me, since I’m not your attorney – as necessary.

1. Family Tree DNA Terms and Conditions (https://www.familytreedna.com/legal/terms-of-service):

The relevant portion(s) includes:

In correspondence with your use of the Services…[y]ou are guaranteeing that any sample you submit is your own; if you are agreeing to these Terms on behalf of a person for whom you have legal authorization, you are confirming that the sample provided will be the sample of that person…[AND] [y]ou agree to not use the Services for any law enforcement purposes, forensic examinations, criminal investigations, and/or similar purposes without the required legal documentation and written permission from FamilyTreeDNA…”

Although uploading artifact DNA is not explicitly prohibited, the restriction that a “sample” be your own or of a person for whom you have legal authorization might not include artifact DNA. A liberal interpretation of “sample” could arguably include artifact DNA (the T&C definition: “‘DNA sample’ or ‘sample’ refers to the cheek swab or any other sample you have provided for the purposes of Genomic Sequencing.”).

Do you have “legal authorization” to upload DNA you obtain from an artifact? There may not be any explicit legal authorization, so could the fact that you aren’t prohibited from using artifact DNA by a law (if that is accurate where you reside!) mean that you have legal authorization? These types of questions will be important to consider.

Also, could uploading artifact DNA be considered a “forensic examination,” for which we cannot use the Services without written permission? I feel strongly that it would not be a forensic examination. “Forensic” is defined as “relating to or dealing with the application of scientific knowledge to legal problems,” and most artifact DNA used for genealogical issues are not being used to examine legal questions.

2. Living DNA Term and Conditions (https://www.livingdna.com/privacy-centre/terms):

The relevant portion(s) includes:

When you upload genetic data to Living DNA, “[y]ou undertake, promise, warrant and agree as follows…[t]hat you are an individual aged over 18, and that the genetic data that you upload to our Site will be: i) your genetic data; [OR] ii) the genetic data of a child where the requirements of paragraph 8.3 below are met; [OR] iii) the genetic data taken from a deceased person where the requirements of paragraph [MISSING CONTENT HERE].

Looking at the previous section about taking a test, of which the uploading section closely follows, the missing language is likely to be: “iii) the genetic data taken from a deceased person where the requirements of paragraph 8.4 are met.” Paragraph 8.4 states:

8.4 You may submit a mouth swab (or with our consent, other biological sample), from a deceased person, or upload the genetic data of a deceased person to our site, only if you are legally entitled to have that mouth swab/biological sample /genetic data (as applicable) and to submit it to us for testing/upload it to our site (as applicable).

Living DNA’s privacy policy faces a similar problem because it does not explicitly allow nor prohibit uploading of artifact DNA. The only logical interpretation of the terms & conditions is that you CAN upload DNA from a deceased individual, but only if you are legally entitled to have that genetic data. Unfortunately, the question of who is “legally entitled” to possess or use artifact DNA is unclear, although I’m not aware of any laws or regulations in the United States that prevent me from being legally entitled to possess or use artifact DNA.

3. MyHeritage DNA Terms and Conditions (https://www.myheritage.com/terms-and-conditions):

The relevant portion(s) includes:

“In addition, you represent that any DNA sample you provide and any information that you transfer or upload that associates an individual with his/her DNA Results are either your DNA or the DNA of a person for whom you are a legal guardian or have obtained legal authorization to provide their DNA to us. Notwithstanding the foregoing, using the DNA Services for law enforcement purposes, forensic examinations, criminal investigations and/or similar purposes, without a court order and without prior explicit written permission from MyHeritage, is strictly prohibited.”

Once again, the Terms & Conditions do not explicitly prohibit artifact DNA uploading, but might be the most restrictive in the current embodiment given this sentence: “Results are either your DNA or the DNA of a person for whom you are a legal guardian or have obtained legal authorization to provide their DNA to us.” If I obtain DNA from an envelope, I potentially haven’t obtained legal authorization to provide the deceased person’s DNA. Here, it’s harder to argue that a lack of legal prohibition to obtain & use artifact DNA is equivalent to “obtain[ing] legal authorization to provide their DNA to” MyHeritage.

As noted above, artifact DNA is unlikely to be considered a “forensic examination” given the definition of forensic as as “relating to or dealing with the application of scientific knowledge to legal problems.” Most artifact DNA used for genealogical issues are not being used to examine legal questions.

I expect that MyHeritage will adjust their Terms & Conditions in the very near future, as they announced at their recent MyHeritage LIVE conference in Oslo that they are exploring artifact testing.

I’m still mulling these clauses over, but my interpretation of the current Terms & Conditions suggests that uploading artifact DNA to Family Tree DNA and MyHeritage is potentially a violation, while it might not be a violation at Living DNA.

Again, NOT legal advice, merely my own personal interpretation.

Suggestions for Company Terms & Conditions (SEE THE DISCLAIMER)

I would love to see the testing companies take a firm stand, either way, on the issue of artifact testing. If a company doesn’t want to accept artifact DNA, I would prefer that they explicitly state so. However, if a testing company DOES want to accept artifact DNA, I would recommend something along the following terms:

• You can only submit DNA obtained (either directly or indirectly) from a living person if: (i) you are the living person; or (ii) you are the guardian of the living minor whose DNA you are submitting; or (iii) you have legal authorization to submit that living person’s DNA if it isn’t your DNA;
• You CAN upload DNA from a deceased individual obtained from a tested artifact if: (i) you own or have permission to test the artifact; and (ii) it is not the DNA of a living person (see the restriction just above); and (iii) doing so does not violate any laws or regulations.

Although not perfect (we could certainly wordsmith and improve these), this more clearly defines the parameters within which a person could upload DNA to a company database, rather than forcing us to guess or pay an attorney for a legal opinion!

DISCLAIMER: THIS IS NOT LEGAL ADVICE.

But What if it Isn’t Great-Grandmother?

One of the biggest concerns people cite when discussing the use of artifact DNA is the inevitable situation that will arise; namely, that the obtained DNA will not be from the suspected individual. For example, perhaps an adult asked a child to lick an envelope or stamp, or let the postmaster do the licking when the envelope was mailed (or potentially the envelope was moistened with a sponge, which is always a possibility). There is no question that this will happen. Indeed, people are likely to sequence many postmasters over the coming years!

However, obtaining unexpected DNA results is not a significant or insurmountable problem, especially when it should be an expected possibility. In most cases, it will be immediately obvious that someone other than the expected individual was sequenced. For example, if the DNA profile from my great-grandmother comes back and it doesn’t share DNA with me, then it isn’t from my great-grandmother and I can try to figure out who it is from. Or if it comes back and it shares 1,700 cM with me, my great-grandmother likely asked her granddaughter (that lived next door) to lick the envelope for her.

The most challenging situation might be where there is no hypothesis prior to testing about who provided the DNA found in the artifact, and no expectation that the artifact owner will be related to the DNA. However, identifying the likely source of DNA from a mystery provider will be straightforward, as it is the same method used to work with DNA results from adoptees.

Ethical Concerns of Artifact Testing

We recently discussed some potential ethical guidelines for artifact testing in the Genetic Genealogy Tips & Techniques group on Facebook. In that discussion (found HERE), I suggested the following ethical guidelines (assuming for purposes of the discussion that artifact DNA testing in general is legal and ethical):

1. An individual shall only test an artifact that they own or have permission to test.
2. An artifact shall not be tested with the intent to analyze the DNA of a living person.
3. An artifact shall only be tested if the likely DNA profile(s) to be obtained is believed to be from a deceased individual. If the likely DNA profile(s) to be obtained is unknown, an artifact should only be tested if it is likely that the owner of the associated DNA profile(s) is deceased.
4. If it is determined that DNA obtained from an artifact is from a living person, that DNA shall be deleted immediately.
5. A DNA profile obtained from an artifact shall only be uploaded to a database only if that database explicitly so permits (ex. GEDmatch “DNA obtained from an artifact”), or if that database does not so prevent.
6. Artifact testing shall not be performed by/for someone in a jurisdiction where it would violate a legal restriction.

The post elicited a spirited conversation, much of it revolving around whether the person sending in the artifact must ethically be a descendant or relative of the person for whom the potential DNA profile will be obtained from the artifact.

I firmly believe that restricting artifact testing to descendants or relatives lacks a logical reason for the limitation. In the U.S. at least, the deceased don’t have rights (other than some celebrity rights in some limited jurisdictions that survive the death of the celebrity), so this won’t be about the deceased. Rather, this might be about the deceased’s family, such as children or grandchildren. This appears concerning at first, as a random person could sequence your parent’s DNA, for example. However, no testing company, for example, requires that you ask your family before submitting a sample. Accordingly, I can send in my children’s DNA without obtaining permission from their maternal grandparents, even though the test will sequence 50% of their DNA.

These and other questions will continue to be discussed in the coming months. However, it is important that we consider these issues early, rather than too late.

What artifacts do you have that might be suitable for testing?

 

 

 

 

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