Find JCD Project Date: Identification-DNA Process Updated:

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1 New Look Investigations Created by: Jack Friess Find JCD Project Date: Identification-DNA Process Updated: Questions and Answers Identification-DNA (ID-DNA) is a scientific process that spans several scientific disciplines in order to uncover and prove a next of kin relationship with an unidentified person, either dead or alive. ID-DNA combines high-tech autosomal DNA (atdna) profiling, computer genealogy database searching, good old fashion detective work of family tree building by a professional genealogist, with finally, the confirmation of a biological connection of a resulting person of interest to the unidentified person. ID-DNA searching is becoming an important tool for investigators in finding the identity and locating the family of unidentified persons. Here are questions and answers that will help to explain this intriguing and occasionally successful process: GENERAL 1. What does ID-DNA stand for? 2. What is DNA? 3. What is autosomal DNA? 4. What is genetic ancestry testing? 5. How is genetic DNA different from DNA obtained at crime scenes or for missing persons? 6. What is required to conduct the ID-DNA process? 7. How does ID-DNA work for finding the next of kin of an unidentified person? 8. What material is needed from an unidentified deceased for the ID-DNA process? 9. How successful is the ID-DNA process? 10. How does the genealogist build a family tree? 11. How is ID-DNA different from sites such as Ancestry.com? 12. How does genetic work in the ID-DNA process? 13. Why not just use the DNA already listed in the FBI s CODIS? 14. How much does the ID-DNA process cost? TECHNICAL 1. How does DNA work? 2. What makes up autosomal DNA? 3. What is GEDmatch? 4. How does the genealogist find the unidentified? 5. What is CODIS? 6. What is UNTCHI?

2 GENERAL 1. What does ID-DNA stand for? ID-DNA is short for Identification-DNA, a multi-step, multi-discipline process that uses a special DNA sequence (autosomal DNA or atdna) to identify related individuals and lineage through the work of professional genealogist(s). ID-DNA is a name for the process of discovering identity and next of kin of an unidentified person utilized by law enforcement and/or medical examiner offices by employing DNA lab(s) and professional genealogist(s). A qualified DNA lab generates an atdna profile from material of the unidentified, which is compared electronically with atdna of members of the public who have registered with private genealogy DNA databases. The results are used by genealogist(s) to build genealogy family trees in an attempt to uncover a person related genetically to the unidentified, and ultimately the unidentified. The final step in the process is for law enforcement to confirm the identity of the deceased through familial DNA testing and evaluation with the closest next of kin through an FBI approved lab, like at the University of North Texas Center for Human Identification (UNTCHI). 2. What is DNA? Deoxyribonucleic acid (commonly called DNA) a self-replicating material present in all living organisms as the main constituent of chromosomes. It is the carrier of genetic information and is unique to each living thing. 3. What is autosomal DNA? Autosomal DNA or atdna is a term used in genetic genealogy to describe DNA which is inherited from the autosomal chromosomes. Autosomal DNA is passed on to offspring from both the mother and the father. atdna data is used in genealogy to determine family lineage and heritage. 4. What is genetic ancestry testing? Genetic ancestry testing, or genetic genealogy, is a way for people interested in family history (genealogy) to go beyond what they can learn from relatives or from historical documentation. Examination of DNA, specifically autosomal DNA, variations can provide clues about where a person's ancestors might have come from and about relationships between families. Genetic ancestry DNA testing is offered by a number of different genealogy Internet websites, Ancestry.com and 23andme.com being the most popular. 5. How is genetic DNA different from DNA obtained at crime scenes or for missing persons? First, while the science of obtaining DNA data is similarly complicated and rigorous in both areas, the social/political environments of the two are very different. Crime scene and

3 missing/unidentified person (MP/UP) processes require the oversight of courts to ensure due process and the maintenance of integrity of evidence. Genetic DNA processes, on the other hand, live in a private, less legalistic, more creative, environment without many of the constraints of formal legal systems and courts. So, for instance, the collecting, transporting, and handling of DNA materials with crime scene or MP/UP processes requires the following of strict, legal chain-of-custody procedures that are not required with the handling of genetic DNA. Next, the DNA profiles differ. Crime scene and MP/UP use mitochondrial-dna, X- chromosomal-dna, and Y-chromosomal-DNA profiles, where genetic DNA uses autosomal DNA. These differing profiles are not compatible and can not be use for comparison and searching for common data sequences. Another difference is control. With the crime scene and MP/UP data, local law enforcement agencies and the FBI maintain ownership and control of the personal DNA data that s been obtained at the scene or from persons. Since the genetic at-dna data are derived from samples voluntarily submitted to, and data purchased from, a private company, the user maintains ownership and control over the DNA profile. Finally, the databanks are different. Since the DNA profiles are not compatible for comparison purposes, they require separate databanks and computer systems. Thus, the crime scene and MP/UP data reside in the FBI s CODIS system, and genetic DNA data reside in separate, private, autosomal DNA databanks created by private companies. 6. What is required to conduct the ID-DNA process? The following are prerequisites for conducting the ID-DNA process: 1. Full cooperation of the agency with jurisdiction, whether it be law enforcement, coroner/medical examiner, or both. 2. A financial commitment by the agency of jurisdiction, or a source of private funding, to cover the costs of the ID-DNA process. 3. A commitment of time of the staff of the agency of jurisdiction, or that of an outside consultant, in order to complete the necessary tasks of the ID-DNA process (e.g. researching the process; contacting labs and professionals; completing contracts, forms, and paperwork; preparing and shipping samples; etc.). 4. Ready access to a good DNA specimen of the unidentified. 5. A private DNA lab capable of extracting atdna from the provided specimen and providing the atdna data formatted for genealogy database(s). 6. A professional genealogist capable of performing atdna computer comparisons and analysis, and capable of conducting in depth family tree building from minimal data. 7. A (mito and/or Y-ch) DNA profile of both the unidentified deceased and of the suspected relative of the unidentified both produced by, or available at, the same DNA lab for evaluation comparisons and positive biological connection determination.

4 7. How does ID-DNA work for finding the next of kin of an unidentified person? Locating the family of an unidentified person is a 5-step process: 1. DNA Lab: Human remains sample (blood, tissue, hair, bone, etc.) from the unknown deceased is submitted to a DNA lab to obtain an autosomal DNA profile which is formatted for the various genealogical (autosomal DNA) databases (e.g. Ancestry.com). 2. Genealogist: Autosomal DNA data is run through the various genealogical (autosomal DNA) databases to obtain the surnames of people who share common DNA with the deceased. 3. Genealogist: A family tree is built by working backwards up the tree to the deceased. One or more relatives are identified who share common DNA with the deceased. 4. Law Enforcement: The most likely relative of the deceased is contacted and approached to submit a bodily fluid sample (mouth swab) which is sent to UNTCHI for processing into a DNA profile to compare with the deceased DNA. 5. UNTCHI and NamUs: A match between the relative and deceased is confirmed and name and family of the deceased is uncovered. 8. What material is needed from an unidentified deceased for the ID-DNA process? The best source of atdna is from blood of the deceased. Organs such as the ear bones and liver are also good sources. Some labs can extract autosomal DNA from hair. But the most difficult and challenging, although something that can and has been accomplished, is extracting autosomal DNA from bone material. The best bone material to use is from the long bones, like a femur. 9. How successful is the ID-DNA process? The potential that the ID-DNA process can be successful is dependent upon a number of variables: 1. How (DNA) robust the forensic human material sample is, and whether the material will yield enough DNA in order to create an atdna profile. Of course, the better the sample, the better the chances of a positive result in the lab. Previous history of obtaining DNA and/or SIA (stable isotope analysis) from the same material can help to make this determination. 2. The time of death of the unidentified person. A more recent (e.g years) death can increase the probability of a match being found in the atdna databases. Of course, the more distant the death, the more difficult, but not impossible, the process of creating a lineage (family tree) which leads back to the unidentified. 3. The profile of the unidentified. An unidentified who more than likely is of the middle or upper class has a better chance that a relative has invested in a genealogy DNA test the data of which has been entered into a national, online atdna database (e.g. Ancestry.com, 23andme.com, etc.). 4. The tenacity, skill, and success of the professional genealogist. The building of the family trees from a few or perhaps even only one match can be tedious and frustrating. Obviously, there is a higher probability of success using a professional

5 genealogist who has demonstrated the ability to stick with the process and successfully produce a confirmed biological match using (mito- and/or Y-ch) DNA comparison between a possible relative and the unidentified. 10. How does the genealogist build a family tree? Normally, a genealogist, whether a professional or the amateur, starts with the person who wishes to learn about their family history or ancestry. Using a tree as a metaphor, the subject s position will be the top most leaf of the top most branch at the top of the tree. Researching then starts by talking with older relatives to obtain an oral family history. That can lead to hunting through family records such as military records, birth and death certificates, bibles or ledgers inscribed with information about family members, newspaper clippings and high school or college yearbooks. Looking through U.S. Census records, as well as online records through websites such as Ancestry.com can net family ties. The process is one of building down the tree to identify branches and ultimately the trunk--that common, and distant relative. With ID-DNA, the genealogist actually begins in the middle of a branch in the middle of the tree and attempts to work up the tree to the unidentified. Using the name of the person which the atdna data comparison reveals a biological connection, and using the same sleuthing methods explained above, the genealogist works over and down the branches building the tree of potential or probably distant relatives. If a dead space is encountered, a test and DNA data sample of an identified potential relative may have to be obtained and entered into the atdna databank in order to continue moving in the right direction over/down and eventually up the tree. The process is one of building over/down to identify branches and perhaps even the trunk, in order to move back up the tree to identify branches and ultimately the unidentified person--from a common, and perhaps distant relative. 11. How is ID-DNA different from sites such as Ancestry.com? Ancestry.com, and the other genetic DNA sites, offer user atdna sequencing services, which results in DNA data that can be entered into online databases and used to search for relatives and lineage of the user. All atdna data sequences contained in the database is compared by the genetic DNA computer(s) to generate a list of people who also have entered their atdna data into the same database and share common DNA segments with the user. A website such as Ancestry.com provides genetic DNA services and other services to live users seeking their genealogical relatives. While ID-DNA uses a similar process of comparing atdna sequences of users in the DNA database, because the user in this case is a deceased unidentified person, the process of obtaining the atdna data is different and cannot be produced by the popular online genetic DNA sites like Ancestry.com, etc. Private DNA labs must be used in order extract, sequence, and produce the atdna data from the forensic human material (blood, hair, teeth, bone, etc.). This DNA extraction process is much more complicated and costly than how the genetic DNA sites obtain the atdna data.

6 12. How does genetic DNA work in the ID-DNA process? ID-DNA turns the ancestral or genealogy search process upside down. Normally, persons interested in genealogy and finding their ancestors, begin at the top of the family tree with themselves and work down. But in the case of an unidentified person, the top of the tree is the unknown, so there is no real starting point. The professional genealogist submits the UP s autosomal DNA data to one or more genealogy (autosomal DNA) databases made up of millions of private citizens who have voluntarily submitted a sample. The computers quickly compare thousands of profiles in minutes, which can produce a hit when the UPs autosomal DNA has common markers with another profile. The genealogy database returns the names of person who have registered autosomal DNA with the genealogy database. 13. Why not just use the DNA already listed in the FBI s CODIS? The DNA used by the FBI in their CODIS systems is a different type of DNA (Mitochondrial- DNA or X/Y-Chromosomal-DNA) as opposed to that used by the genetic DBA databanks (Autosomal-DNA). 14. How much does the ID-DNA process cost? The approximate out-of-pocket costs that can be expected for the entire process from beginning to end are: Lab Costs (atdna extraction and data file) 1, Geneologist (generating one or more POIs) UNT-CHI (MitoDNA/YchromDNA match evaluation) 0.00 Shipping TOTAL $2, TECHNICAL 1. How does DNA Work? In all the cells of our body, our genes are found on chromosomes (long strings of genes). We have many thousands of genes that provide information for our body to grow, develop and remain healthy. The gene sends messages to the cell to make important chemical products such as proteins. There are usually 46 chromosomes in each cell that are arranged into 23 pairs. One of each pair is passed on to us from our mother and the other from our father. 22 of these chromosome pairs are numbered. These numbered pairs are known as the autosomal chromosomes. The 23rd pair is made up of the sex chromosomes called X and Y. Males have an X and a Y chromosome and females have two copies of the

7 X chromosome. An autosomal gene is a gene located on a numbered chromosome and usually affects males and females in the same way. 2. What makes up autosomal DNA? Autosomal DNA is a term used in genetic genealogy to describe DNA which is inherited from the autosomal chromosomes. An autosome is any of the numbered chromosomes, as opposed to the sex chromosomes. Humans have 22 pairs of autosomes and one pair of sex chromosomes (the X chromosome and the Y chromosome). Autosomes are numbered roughly in relation to their sizes. That is, Chromosome 1 has approximately 2,800 genes, while chromosome 22 has approximately 750 genes. 3. What is GEDmatch? GEDmatch.com is a free, volunteer-run website for people who have already tested their autosomal DNA for genealogical purposes at AncestryDNA, 23andMe, Family Tree DNA, MyHeritage DNA, Living DNA, or tested for health purposes at WeGene, GenetiConcept or Genes for Good. Users download a copy of their autosomal raw DNA data file from their own testing company online account, and then upload this file to GEDmatch where it is processed and added to a large database. GEDmatch is accessed by users and genealogists to search for genetic matches to determine family lineage and/or heritage. GEDmatch offers: DNA matching to relatives who have tested at other companies Tools to compare and analyse DNA shared with others Admixture reports (ie. ethnicity/heritage predictions) Extras: Archaic DNA, Eye Colour, Parent Relatedness, Kit Diagnostics, Tier 1 options 4. How does the genealogist find the unidentified? The DNA lab provides to the genealogist the raw atdna data file which is then uploaded to GEDmatch. Results from the computer database comparisons of millions of atdna profiles with the unidentified are analyzed. Then, family trees at built for the closest matches, looking for common ancestors amongst the matches. A Most Recent Common Ancestor (MRCA) amongst the trees for the matches is identified. A tree is developed building down from the MRCA to the expected birth period for the person of interest derived from the approximate birth date of the unidentified. The person of interest is a descendant of the MRCA. The relationship is determined/estimated for each of the matches to the person of interest. The descendants of the MRCA who are of the correct relationship to each of the matches are then reviewed, looking for common names. Those people are candidates for the unidentified. The candidates are then compared to a profile (age, ethnicity, hair color, eye color, etc) that has been developed of the unidentified to discover the person of interest. If there are several candidates, then targeted atdna testing is performed and entered into

8 the genealogy database to give an extra data point. The procedure is repeated until the person of interest is found. 5. What is CODIS? CODIS is the acronym for the Combined DNA Index System and is the generic term used to describe the FBI s program of support for criminal justice DNA databases as well as the software used to run these databases. The National DNA Index System or NDIS is considered one part of CODIS, the national level, containing the DNA profiles contributed by federal, state, and local participating forensic laboratories. The FBI accepts mitochondrial- DNA, X-chromosomal-DNA. and Y-chromosomal-DNA profiles. 6. What is UNTCHI? The University of North Texas Center for Human Identification (UNTCHI) is an accredited forensic laboratory which is globally recognized as a leader in forensic identification. Located on the campus of the University of North Texas Health Science Center in Fort Worth, Texas, UNTCHI services include forensic genetic and anthropological examinations for criminal casework and missing persons identification, local CODIS operations, and development and management of the National Missing and Unidentified Persons System (NamUs) for the US Department of Justice.