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How scientifically and genetically sound are DNA reports from Ancestry.com?
Q: How scientifically and genetically sound are DNA reports from Ancestry.com?First, all DNA testing companies use the same basic process for DNA collection, testing, analysis, and reporting. So 23andme, Family Tree DNA (FTDNA), My Heritage, Living DNA, and all of the others follow the same basic procedures and techniques. Each, however, developed their service separately and do not cooperate or share data.Second, most DNA testing companies use saliva provided by the test subject. Basically, ‘spit’ in a tube. A stabilizing agent is used to help preserve the DNA during shipping. Saliva contains cells from the soft tissue in the mouth that are shed naturally. FTDNA uses a cheek swab to get cells with DNA by ‘scraping’ the soft tissue of the cheeks inside the mouth.Third, the testing follows standard handling techniques and procedures and, in fact, mostly the same equipment. That is, the equipment is developed, built, and sold by third party companies who provide to different DNA testing labs (not just commercial firms like Ancestry). So, the technology and procedures are - to some extent - controlled by the general scientific industry rather than the testing companies.Fourth, each testing company creates a collection of groups of tested DNA used for comparison when examining and reporting your DNA. These groups, called “reference panels” by Ancestry or “reference populations” by others, are created following some basic rules.The DNA was tested by the testing company. That is, they don’t ‘buy’ DNA to put in the reference panels. This means if someone’s DNA is selected to be part of a reference panel, it went through that company’s process.The person being tested self-reported that all of their recent ancestors (e.g. parents, grandparents, great-grandparents, etc) were born and lived in the same geographic region (i.e. Ireland, Poland, Vietnam) or were part of an identifiable sub-group (Sami, Basque, Ashkenazi Jewish).The DNA contains similar markers or strands found in other people from those areas or groups.There may be other rules, which can vary by company, but those are the basics. The more people in each group, the more reliable the comparison with your DNA will be. That is, large data sets reduce the risk of outliers or false positives.Fifth, these groups are given generally recognizable names such as “Ireland & Scotland”, “Southern Europe”, “Scandinavian”, etc. The names might include the names of countries or regions but that’s not because there is some DNA marker that identifies a national DNA. DNA doesn’t have anything to do with modern-day or historical borders. There is no marker that exclusively identifies a country. The names are so it’s easier for you, the customer, to understand where your ancestors lived.Sixth, these groups are not cast in stone. The name of a group can change and new groups may be created at any time. New data (DNA) is added regularly as more people test who satisfy the reference panel rules mentioned above.New analysis techniques might also be developed as researchers learn more about DNA. These new techniques could change how the reference panels are established or how your DNA is compared to the reference panels.DNA analysis is an active science so it is changing. As a result, your results can change.Seventh, because each DNA testing company uses a unique collection of DNA to create their reference populations, the results from testing with two or three different companies will not be identical. In general, you should see similar results but the percentages will probably be different. One company might have more people from a specific geographic region that another company doesn’t have. That doesn’t invalidate either company; it just means one of the companies has better data to perform the analysis.Eighth, as mentioned above, these reference groups should be large. 20,000 or more large. There is no set number for the size of these groups and there is no upper limit. Each group should have a sufficient sample size (i.e. large) to reduce the risk of odd results due to someone who mostly fits but isn’t perfect.Ninth, your DNA results are an estimate. As mentioned above the groups identified for you and the percentages are not set in stone. They will change as more people test.Your ethnic groups are selected by finding some percentage of your autosomal DNA (atDNA) that matches or, more likely, is similar to the DNA found in one or more of the reference panel groups.Let me say that again: Your ethnicity is based on your DNA looking similar to other people who say their recent ancestors lived in a specific geographic region or were part of some identifiable sub-group.Again, there is no national DNA. When the report says “Scotland it isn’t referring to the country. It is referring to the people who say their ancestors lived in that area of the world.Tenth, this isn’t part of your question but the testing companies can tell if two people spit into the same tube or if you put your saliva in a baby’s mouth (I answered that question the other day) or if you send in your pet’s saliva (answered that too).They will see the DNA is contaminated and let you know ‘something’ was wrong with it. They will probably send you another kit to try again. They can also tell if you ignore the instructions on the box and smoke or eat or whatever right before providing the sample. It’s a waste of their time and money so don’t do it.Now for an example. I tested with Ancestry in 2014. The initial report included Scandinavian and Central Asia. There was Ireland and England and Northwest European but the Scandinavian and Central Asia were surprises because I had spent 20+ years conducting traditional genealogy research and not found any of that.It was explained that it was further back in time than my research. Sure, okay.As more people tested, however, both areas disappeared and the percentages shifted toward “Ireland & Scotland” and “England, Wales & Northwest Europe” so that now in 2020 those are my only two ethnic groups. Both of those groups fit my traditional research.The “Northwest Europe” covers a lot of ground including western Germany, the Netherlands, Belgium, and eastern/northern France. A whole bunch of my ancestors came out of those regions. The “England” and “Ireland” also fit into my ancestors.Plus, as more people in Ireland tested and provided locations for their ancestors, Ancestry was able to start telling me regions within the “Ireland & Scotland” reference panel. More data means more reliable results.In the end, the reports are generally reliable, generally accurate, generally trustworthy, scientifically sound or whatever other phrase you want to use based on the fact that the entire commercial DNA testing industry is following the same science including techniques and procedures.DNA testing is an active science so it can and should change as those involved learn more about DNA, sample collection, processing, analysis, reporting, etc. Or even if better technology is developed.Don’t change your current identity based on the results though. That TV commercial about kilts and lederhosen gets the idea across but it’s a weird message. Don’t go changing your ethnic identity based on these results. Don’t make medical decisions, even with the health reports, on these results. They’re “for entertainment only”.Genealogists use the ethnicity reports to help uncover new area to research when they get stuck. Adoptees use the information to understand their genetic lineage better though the DNA matches are much more useful for adoptees and non-paternal event (NPE) children.Is current DNA testing from Ancestry “scientifically and genetically sound”? Yes.
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