New Publication from NIST: Forensic DNA Interpretation and Human Factors - Improving Practice Through a Systems Approach

+12 votes
257 views

The document is circulated as a PDF file free of charge by the U.S. National Institute of Standards and Technology (NIST): https://nvlpubs.nist.gov/nistpubs/ir/2024/NIST.IR.8503.pdf.

I learned of this May 1 publication from forensic DNA expert Tiffany Roy, one of the co-authors, and I think it might well be--despite the title being focused on forensics--of interest to anyone using genetics for genealogical research. As the introduction states:

"Although this report is written specifically within the lens of forensic autosomal short tandem repeat (STR) DNA analysis, much of the content can be applied to other types of DNA analysis (e.g., mitochondrial DNA [mtDNA], Y-chromosome DNA [Y-DNA], Forensic Investigative Genetic Genealogy [FIGG], Rapid DNA) and other forensic disciplines."

It isn't a quick read at 436 pages, but much of what we see in recent advances in procedural methods for analysis and evaluation of comparative DNA data for genealogy has come from the forensics side of the equation. This is logical because the necessity to be rigorously accurate and stringently objective is far greater if examining a potential criminal case than it is for general genealogy work.

If for no other reason, I believe the short section titled, "2.4 Cognitive Bias" (with additional detail in section 3.3), is worth the download. Simple pearls of wisdom from section 3.5 include (and I'm paraphrasing a bit to place it genealogical terms):

  1. Relevant genealogical information should be used in formulating the issues that DNA analysis can provide insight to.
  2. To be balanced, the analyst should consider at least two mutually exclusive propositions when assessing the value of biological results.
  3. Analysts should assign the probability of the findings, not the probability of the (alleged) facts.

Portions of the "Forensic DNA Analysis Process Map" are adaptable to general genealogy, and there is solid discussion about applying the statistical concept of likelihood ratios to DNA analysis (something I've mentioned before here on G2G; see section 4.3 of the document in particular), and about quantitative versus qualitative analysis.

A lot of us struggle with how to present genetic genealogy conclusions and, while some of the information is specific to use in forensics, there is some good, cross-platform advice and guidelines in Chapter 5, "Reporting."

There is much more in the new publication, and I don't want to imply individual sections should be cherry-picked for general genealogy purposes. You almost certainly won't dive into this like you would the latest best-selling thriller, but if you have an interest in genetic genealogy there's a lot to browse through.

We have no similar authoritative body working on anything of a kindred scope and depth for the use of DNA in general, ancestral/relationship genealogy, but there are clues and cues we can glean from this publication. A big "thank you" to all of the contributors for the massive amount of collaborative work it must have taken to bring this to print.

in The Tree House by Edison Williams G2G6 Pilot (451k points)

I told Tiffany that I'd posted here about the NIST publication, and later in the day she mentioned the post on LinkedIn. We got a little unexpected exposure.

2 Answers

+5 votes
That's a lot of reading before breakfast Edison, I've downloaded it for reading and had a look at the contents section and a few passages, having written ISO 9002 manuals in the past, it looks like a lot of reading to get to the relevant nuggets.
by Gary Burgess G2G6 Mach 9 (90.3k points)
A kindred spirit! I served on two ISO working groups for several years.

The NIST publication definitely has some specific jargon and abbreviations it uses, but after you get that sorted out it is, for the most part, written in a more readable fashion than other similar reports I've seen.

Speaking of ISO, their international standard for forensic science (ISO/IEC 21043) has been in development since 2018, but there seem to be only two parts to it intended--at least at this time--and neither addresses the interpretation, human evaluation, or reporting aspects...the elements that arguably are the most important for our genetic genealogy interests. Instead, ISO 21043 seems more an augmentation of ISO/IEC 17025, general requirements for the competence of testing and calibration laboratories. So far, ISO 21043 has more to do with the collection, recording, and storage of DNA forensic samples.
+2 votes

Me…

0’ Dark Hundred…

Reading Edison’s posts…

Smiles….

Long sip of Java….

You’re a robot, aren’t u Edison?  Like Pacino’s Simone.

And then, of course, my eyes glazed over and my brain started to itch.  So, back to profiles I go…  Lol

by K Morse G2G5 (5.7k points)

I'm about the most boring person you could ever meet, but I don't think I'm a robot. But then, recent AI stuff has already beat the Turing test. And some large language models and generative AI tools are often accused of being repetitive and using unnecessary word-count. And there are those who are convinced that our universe is just a computer simulation anyway.

So...

Just appreciate the intimation that I could spell DNA. ;)  And after spending over half my career in simulation, pretty sure only humans could jack things up to this degree. ;)  Then again…

I luvv the DNA board… it’s like Reddit for smart people!  Lol
Boring you are not.   I tointimidating because you know more than the average person but never boring.    

Thank you for sharing and looking to educate those who want to grow and learn.

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