Investigative genetic genealogy

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Investigative genetic genealogy, also known as forensic genetic genealogy, is the emerging practice of utilizing genetic information from direct-to-consumer companies for identifying suspects or victims in criminal cases. [1] As of December 2023, the use of this technology has solved a total of 651 criminal cases, including 318 individual perpetrators who were brought to light. [2] [3] There have also been 464 decedents identified, as well as 4 living does. [4] The investigative power of genetic genealogy revolves around the use of publicly accessible genealogy databases such as GEDMatch and FamilyTreeDNA. On GEDMatch, users are able to upload their genetic data from any direct-to-consumer company in an effort to identify relatives that have tested at companies other than their own.

Contents

Identifying unknown subjects through investigative genetic genealogy is done through the use of analysis of identity-by-descent (IBD) segments of DNA that indicate shared ancestors. [5] Data available in GEDMatch, which is composed of genetic profiles from approximately 1.2 million individuals, has proven capable of identifying a third cousin or closer in over 90% of the population. [6] This information, used in tandem with demographic identifiers like age, gender, and place of residence, is sufficient for identifying any person who has a third cousin or closer within a publicly accessible genetic genealogy database.

Law enforcement agencies have leveraged the access to public databases by uploading crime-scene genealogy data and inferring relatives to potential suspects. [7] [8] [9] Family tree assembly and analysis of demographic identifiers is then carried out by genetic genealogy experts, either working directly for law enforcement agencies or through one of the many US companies that have been set up to work on these cases. Parabon Nanolabs is the most well known company working in this field. [10] By January 2021 Parabon claimed to have used genetic genealogy to produce an investigative lead in over 200 cases. [11] The DNA Doe Project, a non-profit organization, have also been instrumental in resolving unidentified remains cases, many of whom are victims of violent crimes. [12]

Field Application

A wildfire rampages through a neighborhood in California. Michael-held-Of-NXuECJbE-unsplash.jpg
A wildfire rampages through a neighborhood in California.

There are more uses to investigative forensic genealogy than cold cases or cases otherwise deemed "unsolvable" by law enforcement. Natural disasters such as floods, wildfires, earthquakes are all prime examples of scenarios where gene-matching can be utilized. [13] In instances where the body is unidentifiable by standard means, such as facial recognition or dental records, genetic technology can be used. [14]

A number of living doe situations have also been solved this way. There is push to provide more resources for DNA to be offered when there is a need to identify a child who has been trafficked, or an adult who was trafficked at a young age. [15]

Agencies that fall under the US Department of Justice, who have jurisdiction on the case(s) and/or person(s), can utilize forensic genetic genealogical DNA analysis and searching, FGGS for short. There are specific rules they must follow in order to use the system. [16]

Complications

The use of investigative genetic genealogy has been central in numerous high-profile cases, namely in the identification and ultimate arrest of Joseph DeAngelo, the Golden State Killer. [7] Despite its apparent success, the growing use of genetic genealogy databases by law enforcement agencies has not avoided serious scrutiny. A year prior to the arrest of DeAngelo, an individual was wrongly identified as a suspect in the murder of Angie Dodge, an 18-year-old woman who was the victim of a 1996 murder in Idaho Falls, Idaho. Michael Usry was the subject of a police investigation that led to a court order requiring Ancestry.com to disclose the identity of a partial match to crime scene DNA. [17] This partial match was Usry, who was ultimately cleared as a suspect after police secured a warrant for his DNA. This DNA test proved that he was not a full match to the perpetrator.

Privacy implications

Direct-to-consumer companies

The use of genetic genealogy databases by investigators has initiated a debate over the Fourth Amendment implications of genealogy data. The Fourth Amendment states that a warrant is required in situations that violate an individual's reasonable expectations of privacy. [18] Given the sensitivity of information within direct-to-consumer genealogy databases, particularly concerning medical traits, behavioral tendencies, ethnic background, and familial associations, courts have asserted that they are subject to protection under the Fourth Amendment. [19] [ examples needed ]

Currently, direct-to-consumer companies do not promise complete protection of user data. 23andMe, a leading consumer genealogy company, states in its privacy policy that “23andMe will preserve and disclose any and all information to law enforcement agencies or others if required to do so by law or in the good faith belief that such preservation or disclosure is reasonably necessary to…comply with legal or regulatory process”. [20]

In an effort to remain transparent to its consumers, 23andMe has a quarterly Transparency Report. This report identifies the number of government requests for user data in addition to the number of times data has been produced without the explicit consent of the individual(s) of interest. 23andMe claims to have never produced user data without consent. [21] The other industry leader, Ancestry.com, takes an analogous stance on the privacy of user data and similarly provides an annual transparency report. [22]

The direct-to-consumer genealogy company FamilyTreeDNA faced a backlash following an admission that they were working secretly with the FBI. This partnership was initiated in 2018 and had the goal of solving cold cases involving murder and rape. [23] Following scrutiny, FamilyTreeDNA's president Bennett Greenspan apologized for a lack of transparency, stating "I am genuinely sorry for not having handled our communications with you as we should have". [23]

Public genetic genealogy databases

Privacy implications pertaining to public databases like GEDMatch are distinct from direct-to-consumer companies. As users voluntarily upload their genealogy profiles to GEDMatch, they forfeit their privacy to the data. The third-party doctrine, originally established by the US Supreme Court, states that a person “has no legitimate expectation of privacy in information…voluntarily turn[ed] over to third parties”. [24] However, following intense media attention after the arrest of the Golden State Killer, GEDMatch changed their terms of service to require individuals to opt into use of their profiles by third parties. [25] In effect, privacy rights were shifted back into the hands of the users.

Potential for supplementing the FBI's CODIS System

The US government's own Combined DNA Index System (CODIS) database is composed of forensic evidence assessable to local, state, and federal law enforcement officials. This database consists of genetic profiles of approximately 18 million different people, however these are limited to DNA samples from convicted felons and arrestees. [26] Data on the racial distribution of profiles suggests that 8.6% of the entire African American population is present in the database compared to only 2% of the white population. [19]

On the other hand, genetic profiles from direct-to-consumer databases and GEDMatch consist of 75% white individuals from Northern European descent. [5] The vast overrepresentation of African American individuals within the CODIS database has rendered it relatively ineffective for solving serial murder and sexual assault cases, of which the majority of perpetrators are white. Based on data from 4,700 mass murderers, 57% of serial killers are white whereas only 29% are African American. [27] It has been suggested that the use of investigative genetic genealogy, which relies heavily on databases like GEDMatch, would therefore help to reduce racial disparities in the current criminal justice system. However, in practice it has been found that the majority of victims identified through this technique were white. [28]

Investigative Genetic Genealogy Centers

The world's first Investigative Genetic Genealogy Center was launched at the Ramapo College of New Jersey in December of 2022. The center offers student workshops, certificate programs, and bootcamps for interested practitioners around the world. [29] The center is led by David Gurney and Cairenn Binder. [30]

Related Research Articles

Genetic genealogy is the use of genealogical DNA tests, i.e., DNA profiling and DNA testing, in combination with traditional genealogical methods, to infer genetic relationships between individuals. This application of genetics came to be used by family historians in the 21st century, as DNA tests became affordable. The tests have been promoted by amateur groups, such as surname study groups or regional genealogical groups, as well as research projects such as the Genographic Project.

A genealogical DNA test is a DNA-based genetic test used in genetic genealogy that looks at specific locations of a person's genome in order to find or verify ancestral genealogical relationships, or to estimate the ethnic mixture of an individual. Since different testing companies use different ethnic reference groups and different matching algorithms, ethnicity estimates for an individual vary between tests, sometimes dramatically.

Ancestry.com LLC is an American genealogy company based in Lehi, Utah. The largest for-profit genealogy company in the world, it operates a network of genealogical, historical records, and related genetic genealogy websites.

<span class="mw-page-title-main">Family Tree DNA</span> Commercial genetic testing company

FamilyTreeDNA is a division of Gene by Gene, a commercial genetic testing company based in Houston, Texas. FamilyTreeDNA offers analysis of autosomal DNA, Y-DNA, and mitochondrial DNA to individuals for genealogical purpose. With a database of more than two million records, it is the most popular company worldwide for Y-DNA and mitochondrial DNA, and the fourth most popular for autosomal DNA. In Europe, it is the most common also for autosomal DNA. FamilyTreeDNA as a division of Gene by Gene were acquired by MYDNA, Inc., an Australian company, in January 2021.

<span class="mw-page-title-main">23andMe</span> American personal genomics company

23andMe Holding Co. is a publicly held personal genomics and biotechnology company based in South San Francisco, California. It is best known for providing a direct-to-consumer genetic testing service in which customers provide a saliva sample that is laboratory analysed, using single nucleotide polymorphism genotyping, to generate reports relating to the customer's ancestry and genetic predispositions to health-related topics. The company's name is derived from the 23 pairs of chromosomes in a diploid human cell.

A DNA database or DNA databank is a database of DNA profiles which can be used in the analysis of genetic diseases, genetic fingerprinting for criminology, or genetic genealogy. DNA databases may be public or private, the largest ones being national DNA databases.

<span class="mw-page-title-main">DNAPrint Genomics</span>

DNAPrint Genomics was a genetics company with a wide range of products related to genetic profiling. They were the first company to introduce forensic and consumer genomics products, which were developed immediately upon the publication of the first complete draft of the human genome in the early 2000s. They researched, developed, and marketed the first ever consumer genomics product, based on "Ancestry Informative Markers" which they used to correctly identify the BioGeographical Ancestry (BGA) of a human based on a sample of their DNA. They also researched, developed and marketed the first ever forensic genomics product - DNAWITNESS - which was used to create a physical profile of donors of crime scene DNA. The company reached a peak of roughly $3M/year revenues but ceased operations in February 2009.

Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism (SNP) analysis chips, or partial or full genome sequencing. Once the genotypes are known, the individual's variations can be compared with the published literature to determine likelihood of trait expression, ancestry inference and disease risk.

<span class="mw-page-title-main">DNA phenotyping</span> DNA profiling technique

DNA phenotyping is the process of predicting an organism's phenotype using only genetic information collected from genotyping or DNA sequencing. This term, also known as molecular photofitting, is primarily used to refer to the prediction of a person's physical appearance and/or biogeographic ancestry for forensic purposes.

<span class="mw-page-title-main">CeCe Moore</span> American genetic genealogist (born 1969)

CeCe Moore is an American genetic genealogist who has been described as the country's foremost such entrepreneur. She has appeared as a guest on many TV shows and as a consultant on others such as Finding Your Roots. She has helped law enforcement agencies in identifying suspects in over 50 cold cases in one year using DNA and genetic genealogy. In May 2020, she began appearing in a prime time ABC television series called The Genetic Detective in which each episode recounts a cold case she helped solve.

Genetic privacy involves the concept of personal privacy concerning the storing, repurposing, provision to third parties, and displaying of information pertaining to one's genetic information. This concept also encompasses privacy regarding the ability to identify specific individuals by their genetic sequence, and the potential to gain information on specific characteristics about that person via portions of their genetic information, such as their propensity for specific diseases or their immediate or distant ancestry.

DNA encryption is the process of hiding or perplexing genetic information by a computational method in order to improve genetic privacy in DNA sequencing processes. The human genome is complex and long, but it is very possible to interpret important, and identifying, information from smaller variabilities, rather than reading the entire genome. A whole human genome is a string of 3.2 billion base paired nucleotides, the building blocks of life, but between individuals the genetic variation differs only by 0.5%, an important 0.5% that accounts for all of human diversity, the pathology of different diseases, and ancestral story. Emerging strategies incorporate different methods, such as randomization algorithms and cryptographic approaches, to de-identify the genetic sequence from the individual, and fundamentally, isolate only the necessary information while protecting the rest of the genome from unnecessary inquiry. The priority now is to ascertain which methods are robust, and how policy should ensure the ongoing protection of genetic privacy.

Parabon NanoLabs, Inc. is a company based in Reston, Virginia, that develops nanopharmaceuticals and provides DNA phenotyping services for law enforcement organizations.

Yaniv Erlich is an Israeli-American scientist. He formerly served as an Associate Professor of Computer Science at Columbia University and was the Chief Science Officer of MyHeritage. Erlich's work combines computer science and genomics.

<span class="mw-page-title-main">GEDmatch</span> Genetic genealogy website

GEDmatch is an online service to compare autosomal DNA data files from different testing companies. It is owned by Qiagen.

<span class="mw-page-title-main">DNA Doe Project</span> American organization formed to identify deceased persons using forensic genealogy

DNA Doe Project is an American nonprofit volunteer organization formed to identify unidentified deceased persons using forensic genealogy. Volunteers identify victims of automobile accidents, homicide, and unusual circumstances and persons who committed suicide under an alias. The group was founded in 2017 by Colleen M. Fitzpatrick and Margaret Press.

Barbara Rae-Venter is a New Zealand-born American genetic genealogist, biologist, and retired patent attorney best known for her work helping police and investigators identify Joseph James DeAngelo as the Golden State Killer. Born in New Zealand, she earned a doctorate at the University of California at San Diego and later completed law school at the University of Texas at Austin. After retirement from her law career, Rae-Venter started researching her family history as a hobby in an attempt to help a family member find his biological family. As part of this work, she was asked to help identify a woman who had been abducted as a child. Her efforts in this case eventually identified Terry Peder Rasmussen as the suspect in the Bear Brook murders in New Hampshire. In 2019 she was included in the Time 100 list of most influential people and in 2018 was recognized in Nature's 10, a list of "people who mattered" in science by the journal Nature. Barbara authored the book I Know Who You Are: How an amatueur DNA sleuth unmasked the Golden State Killer and changed crime fighting forever in 2023.

<span class="mw-page-title-main">Murder of Mary Silvani</span> American murder case

Mary Edith Silvani, known as "Sheep's Flat Jane Doe" and "Washoe County Jane Doe" while unidentified, was an American woman found shot to death near Lake Tahoe in Washoe County, Nevada in July 1982. She was unidentified for 37 years, the investigation becoming a cold case. The Washoe County Sheriff's Office announced her identity on May 7, 2019. Silvani was identified through DNA analysis and genetic genealogy with assistance from the DNA Doe Project and utilizing the public genealogy database GEDmatch.

The rape and murder of Angie Dodge occurred in Idaho Falls, Idaho on June 13, 1996. However, the true perpetrator was not apprehended until May 2019.

A reverse search warrant is a type of search warrant used in the United States, in which law enforcement obtains a court order for information from technology companies to identify a group of people who may be suspects in a crime. They differ from traditional search warrants, which typically apply to specific individuals. Geo-fence warrants, which seek data on mobile phone users who were in a specific location at a given time, and keyword warrants, which request information on users who searched specific phrases, are two types of reverse search warrants.

References

  1. ↑ Kling, Daniel; Phillips, Christopher; Kennett, Debbie; Tillmar, Andreas (2021). "Investigative genetic genealogy: Current methods, knowledge and practice". Forensic Science International: Genetics. 52: 102474. doi: 10.1016/j.fsigen.2021.102474 . PMID   33592389. S2CID   231944378.
  2. ↑ "IGG Cases". www.genealogyexplained.com. Retrieved 2023-12-01.
  3. ↑ Dowdeswell, Tracey (22 January 2024). "The Forensic Genetic Genealogy Project". Mendeley Data. doi:10.17632/cc5rh42mf9.1 . Retrieved 31 January 2024.
  4. ↑ Dowdeswell, Tracey (22 January 2024). "The Forensic Genetic Genealogy Project". Mendeley Data. doi:10.17632/cc5rh42mf9.1 . Retrieved 31 January 2024.
  5. 1 2 Erlich, Yaniv; Shor, Tal; Pe’er, Itsik; Carmi, Shai (2018-11-09). "Identity inference of genomic data using long-range familial searches". Science. 362 (6415): 690–694. Bibcode:2018Sci...362..690E. doi: 10.1126/science.aau4832 . ISSN   0036-8075. PMC   7549546 . PMID   30309907.
  6. ↑ Khan, Razib; Mittelman, David (2018-08-20). "Consumer genomics will change your life, whether you get tested or not". Genome Biology. 19 (1): 120. doi: 10.1186/s13059-018-1506-1 . ISSN   1474-760X. PMC   6100720 . PMID   30124172.
  7. 1 2 Phillips, Chris (2018-09-01). "The Golden State Killer investigation and the nascent field of forensic genealogy". Forensic Science International: Genetics. 36: 186–188. doi:10.1016/j.fsigen.2018.07.010. ISSN   1872-4973. PMID   30041097. S2CID   51725765.
  8. ↑ Murphy, Heather (July 1, 2019). "Genealogy Sites Have Helped Identify Suspects. Now They've Helped Convict One". NY Times . Retrieved May 20, 2020.
  9. ↑ Murphy, Heather (October 5, 2019). "Playing Catch a Killer With a Room Full of Sleuths". NY Times . Retrieved May 20, 2020.
  10. ↑ Arnold C. The controversial company using DNA to sketch the faces of criminals. Nature news feature, 9 September 2020.
  11. ↑ Greytak EM. Genetic genealogy for cold case and active Investigations: 2021 update. The ISHI Report, 1 December 2021.
  12. ↑ Thompson N. DNA detectives are using new tools to solve decades-old cold cases. Wired, 8 December 2020.
  13. ↑ Dowdeswell, Tracey (May 2022). "Forensic Genetic Genealogy: A Profile of Cases Solved". Forensic Science International: Genetics. 58: 102679. doi:10.1016/j.fsigen.2022.102679 . Retrieved 9 December 2023.
  14. ↑ Dowdeswell, Tracey (June 2023). "The Forensic Genetic Genealogy Project". Mendeley Data. doi:10.17632/82969bsmw4.3 . Retrieved 9 December 2023.
  15. ↑ Katsanis, Sara H.; Kim, Joyce; Minear, Mollie A.; Chandrasekharan, Subhashini; Wagner, Jennifer K. (2014). "Preliminary Perspectives on DNA Collection in Anti-Human Trafficking Efforts". Recent Advances in DNA & Gene Sequences. 8 (2): 78–90. doi:10.2174/2352092209666150216122234. ISSN   2352-0922. PMC   9214651 . PMID   25687341.
  16. ↑ "UNITED STATES DEPARTMENT OF JUSTICE". UNITED STATES DEPARTMENT OF JUSTICE.
  17. ↑ Swenson, Kyle. "Police twice targeted the wrong men for a brutal 1996 killing. A cigarette butt changed everything". Washington Post . Retrieved 2019-12-15.
  18. ↑ "Constitute". www.constituteproject.org. Retrieved 2019-12-15.
  19. 1 2 Abrahamson, Claire (2018–2019). "Guilt by Genetic Association: The Fourth Amendment and the Search of Private Genetic Databases by Law Enforcement". Fordham Law Review. 87: 2539.
  20. ↑ 23andMe. "DNA Genetic Testing & Analysis - 23andMe". www.23andme.com. Retrieved 2019-12-15.{{cite web}}: CS1 maint: numeric names: authors list (link)
  21. ↑ 23andMe. "Transparency Report - 23andMe". www.23andme.com. Retrieved 2019-12-15.{{cite web}}: CS1 maint: numeric names: authors list (link)
  22. ↑ "Transparency". www.ancestry.com. Retrieved 2019-12-15.
  23. 1 2 Haag, Matthew (2019-02-04). "FamilyTreeDNA Admits to Sharing Genetic Data With F.B.I." The New York Times. ISSN   0362-4331 . Retrieved 2019-12-15.
  24. ↑ Villasenor, John (2013-12-30). "What You Need to Know about the Third-Party Doctrine". The Atlantic. Retrieved 2019-12-15.
  25. ↑ Murphy, Heather (2019-04-25). "Sooner or Later Your Cousin's DNA Is Going to Solve a Murder". The New York Times. ISSN   0362-4331 . Retrieved 2019-12-15.
  26. ↑ "CODIS and NDIS Fact Sheet". Federal Bureau of Investigation. Retrieved 2019-12-15.
  27. ↑ Samet, Mackenzie; Salo, Jackie (2018-08-14). "New profile of serial killers debunks long-held myths". New York Post. Retrieved 2019-12-15.
  28. ↑ Stern J and Zhang S. victims left behind by genetic genealogy. The Atlantic, 27 January 2021.
  29. ↑ "Investigative Genetic Genealogy (IGG) Home". Investigative Genetic Genealogy Center (IGG). Retrieved 2023-04-10.
  30. ↑ "About Us". Investigative Genetic Genealogy Center (IGG). Retrieved 2023-04-08.
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