Y-STR Allele Nomenclature

Nomenclature—Take Two
Editorial by Whit Athey
Journal of Genetic Genealogy
Volume 4, Number 2 (Fall, 2008)

A year ago in this space, I lamented the differences in Y-STR nomenclature that existed on several markers between genetic genealogy companies. Since that time, things have only gotten worse as some markers that were previously scored the same by all companies, now have differences. Most companies appear to be trying to do what they believe fits best with the recommendations of the International Society of Forensic Genetics (ISFG), but there are apparently differing interpretations of these guidelines. In addition, a few companies have standards on a few markers that pre-date the general acceptance of the ISFG recommendations.

In this issue of JoGG, the Human Identity Group at NIST [National Institute of Standards and Technology], led by John Butler, has written a review article on Y-STR nomenclature that tries to explain the basis for the differing interpretations (Butler, 2008). Perhaps more importantly, the group is now providing its own recommendations for the markers where differing scoring methods exist between companies. This could well be a turning point in the history of this messy subject. We can only hope that now all of the different companies will adopt the NIST recommendations and bring an end to the confusion.

Undoubtedly, if these recommendations are adopted industry wide, the change to the new standards will bring its own confusion at first as we try to get used to seeing a new range of values being reported from our favorite companies, but this should only be a temporary problem. There will probably be temporary confusion in the public databases as well, though it should be possible for each database administrator to make a blanket change to all records in order to bring them into line with the new standards.

The advantages of having industry-wide standards are compelling for both buyers and sellers of genetic genealogy services. The advantages for consumers are obvious, but the confusion caused by differing standards may be causing a small number of people to opt out of testing altogether. Probably more important for companies is the amount of time that a company must spend on explaining why its results may be different from those of another company. It seems that both customers and companies would benefit considerably from uniform standards.

Now that we have some clear recommendations on the specific markers where there are differences between companies, the ball is in the court of the genetic genealogy companies. Let’s hope that they will do the right thing. It would be helpful if they could coordinate the date for any changes that they may adopt.

To read the NIST paper: Click Here. (Adobe Acrobat Reader Required)

Note: This paper is very lengthy and very technical.

To read a much shorter and less technical interview with the NIST Human Identity Group team members: Click Here.