Nov 02 2020

Investigative Genetic Genealogy and Criminalistics – What is the Future?

Investigative Genetic Genealogy (IGG) has been amazing in solving both cold and recent cases and for exonerating the innocent. Each day, another once-thought-to-be-intractable case is solved using this new-to-forensics means of human identification. We live in exciting times for forensic identification!

Despite, or because of, this success, the use of genetic genealogical data for forensic casework has brought up issues – the most obvious relating to personal privacy versus public safety – that is, the use of personal genetic data for the common good. Yet more concerns arise at each level of forensic investigation as we try to make practical use of IGG autosomal SNP analysis within an infrastructure of the better understood use of forensic STR analyses and databases such as CODIS for investigative lead generation.

The science of SNP genotyping on which IGG depends arose from the biomedical industry; the practical application of that science to human identification came from the genealogy community’s efforts to solve cases of misattributed paternity. Consequently, IGG has developed for the most part outside of the conventional framework of the forensic community, without the legal and scientific input that has helped to define current crime lab standards, policies, and procedures, much like the historical applications of RFLP, PCR, reverse dot blots, Sanger sequencing, and capillary electrophoresis (CE) to forensic genetics.

Over the last three decades, the path of a DNA sample collected from a crime scene has been relatively straightforward. An item is submitted to a crime lab for comparison to a known suspect, and/or, if eligible, for upload to forensic DNA databases for one-to-many queries against STR profiles from suspects, arrestees, convicted offenders, and solve and unsolved cases, depending on the specifics of a jurisdiction. Where familial searching is practiced, a search is performed for partial hits to immediate relatives. Direct comparison to a reference sample is warranted if a CODIS or a familial hit is achieved.

With the advent of IGG, however, the decision-making process has become more complex due to alternate pathways for crime scene DNA analyses. CE and NGS methods in the hands of crime labs are well defined; whether a sample is eligible for CODIS upload is made based on protocol. However, the technology required to generate a genetic genealogy SNP profile, whether by whole genome sequencing, microarray or targeted NGS, is currently in the hands of private labs, not for profit labs and genetic genealogy companies. Decisions on whether a sample could or should be used for IGG analysis is based on emerging sample quantity and quality guidelines, such as those stated in the DOJ Interim Policy on Forensic Genetic Genealogy, and are currently made by law enforcement and legal authorities with input from those labs and companies.

During her presentation at ISHI 31, Colleen Fitzpatrick, founder of Identifinders International, presented an overview of how the two infrastructures–CE-based typing and SNP-based IGG –presently co-exist with less than optimum overlap, along with short, medium, and long term views on how they could be made more compatible, and perhaps combined into a less complex, and more efficient system. She also discussed the development of an IGG Think Tank open to all members of the community who have an interest in streamlining the process for IGG casework. As there wasn’t enough time to answer all of the questions that came in during her presentation, we’ve compiled them here.

What is the purpose of Identifinders International?

We are pioneers in the application of forensic genetic genealogy (aka investigative genetic genealogy) to cold case work. Through Identifinders, I worked the first case where genetic genealogy was used to develop investigative leads on a cold case (the Sarah Yarborough Homicide), and also helped solve the first case based on genetic genealogy (the Phoenix Canal Murders). We are continuing to develop new technologies and techniques to move investigative genetic genealogy forward.

What are the biggest challenges facing genetic genealogy?

The biggest challenge is to get the community to work together to develop IGG in a self-consistent manner. Because most IGG cases are being worked by for-profit companies, much of the data that could go into building a more complete picture of the technology is proprietary and based on criteria that are not fully disclosed. There is also conflicting information about the limits to which IGG has been pushed in terms of low level and compromised samples. Many agencies are attracted to the publicity surrounding cases that have been solved using IGG, but which do not give a balanced picture of what they can expect from the technique. As a result, agencies that want to use IGG are confused about what they need and are presented with options they don’t understand and that are not always the most appropriate for their cases.

I am nevertheless happy to see that some of this confusion is being resolved. My observation is that agencies are getting past the hype and becoming more knowledgeable about how to use IGG in a responsible manner.

Shouldn’t regulation be among the top three concerns for the future of genetic genealogy? Certification for people performing this work? Standards and laws for its operation?

Yes I think regulation is important, and I am familiar with how the forensic certification process works. As a first step, I have been involved in the last few years with getting the American Academy of Forensic Science to recognize forensic genealogy as an official forensic discipline.

Yet I see many challenges. I don’t see how credentialing of the genealogy community can be accomplished in the short term, even as IGG becomes more established in the forensic world. The genetic genealogy community is very large and diverse, with no single authority governing genealogical credentialing. Unlike forensic science, the development of genetic genealogy has been market-driven and based on crowd-sourced data. Genetic genealogy has been a largely unregulated industry since its formation 20 years ago. It would be almost impossible to get the genie in the bottle.

Future IGG certification would have to be based on a fair evaluation of education, performance, and professional activities, but by whom? There are very few practitioners in the genealogy community who have the professional, legal, or scientific background required to support a well thought-out forensic IGG certification process. At the same time, the established forensic community will have difficulty applying its standards to such an unregulated genealogical community without limiting its ability to perform.

How do you interact with Law Enforcement Officers (LEO) on cases? Do you work with agencies directly?

All the time, since our first genetic genealogy case in 2011. Yes we work with law enforcement directly from beginning to end. On the front, we guide LE agencies, DA’s, and medical examiners through DNA processing, we help them with data analysis, and on the back end we do the genetic genealogy.

How do you propose the bias seen with genetic databases be overcome?

It may not be possible considering that the majority of genetic genealogists in the US who contribute to the databases are Caucasian European. I don’t see that changing. The number of individuals of other ethnicities (Native American, African American, etc) in the databases may never represent as significant a percentage.

What type of training/certification is desired for those that want to perform genetic genealogy for a career (so I can tell my students)?

I assume you mean forensic genetic genealogy. I suggest that your students sharpen their skills through using genetic genealogy to solve cases of unknown parentage. This will allow them insight into the process and to become familiar with the “tricks of the trade”. They will need this experience as they move into forensic genetic genealogy, where they will have to work in a more restricted environment. Casework is confidential, and a genealogist is not free to reach out to matches to ask about their genealogies or to get them to target test. This makes forensic genetic genealogy much more difficult than conventional genetic genealogy.

How are citizen scientists and genetic genealogists working outside of LE agencies able to have access to confidential criminal case information and evidence in the form of suspect/victim DNA profiles?

Sorry but this is not possible. You have to work with LE agencies. You cannot obtain confidential files or crime scene DNA profiles from any other source.

Has IGG been applied to any cases where previous Y-STR results were not able to implicate nor rule out a suspect, especially in mixed or inconclusive profiles? If so, what are the legal implications of applying IGG in these cases?

IGG and Y-STR analysis are separate means of identification. A suspect can be identified through IGG in cases where his Y-STR profile is unavailable. And Y-DNA can provide investigative leads even if there is no remaining crime scene DNA that can be tested for IGG. If both methods are applied to a case but give conflicting results, it is usually because the perpetrator experienced an adoption or name change somewhere in the male line of his family so that his biological surname differs from his legal surname.

Note that the results of IGG and Y-STR comparison are treated as leads. Neither is a legal form of identification. Even if IGG or Y-DNA is used to identify a suspect, that person must still give a DNA sample to be compared to DNA from the crime scene using CODIS.

Nowadays, has forensic genealogy been applied more at a national (NDIS), state, or local level? Can you speak more on the interaction between CODIS databases and genealogy companies?

There is no interaction between the CODIS databases and genealogy companies. They represent two different systems. CODIS is the legal form of identification; the CODIS database is only available to law enforcement. It is off limits to genealogy companies and even so, it is useless to genealogy because the two systems use different markers. CODIS is based on autosomal STRs, and genetic genealogy is based on autosomal SNPs. Both systems use many of the same Y-STRs, but access different databases to find matches. Note also that the Y-STR databases used by law enforcement are not part of CODIS and are not available to genetic genealogists. We use Y-STR profiles instead to compare to the genetic genealogy databases, with the goal of finding a possible surname for a perpetrator.

CODIS has national, state, and local databases for forensic genealogy does not. Forensic genealogy only functions on the bases of two databases – GEDmatch and the Family Tree DNA that are accessible community-wide. GEDmatch is free, but Family Tree DNA is fee-based.

Since genetic genealogy is a fairly new technology in criminal investigation, have there been many challenges in court?

Not so far. The reason is that genetic genealogy is only used to generate investigative leads, it is not the legal form of identification. Once someone is identified by IGG, he must still provide a DNA sample to be compared to the DNA found at the crime scene. This is done using CODIS. A CODIS match is more likely to be the source of a challenge in court, not the genealogy that provided the information that led to the identity of a perpetrator.