Welcome To DIGS The Dallas Genealogical Society DNA Special Interest Copyright 2015 © Mic Barne e mic@micbarne e.com
Genetic Genealogy Standards
This document is intended to provide standards and best prac ces for the genealogical community to follow when: • Purchasing • Recommending • Sharing • Wri ng about the results of DNA tes ng for ancestral purposes h p://www.thegene cgenealogist.com/wp-content/uploads/ 2015/01/Gene c-Genealogy-Standards.pdf
1: Company Offerings
Genealogists review and understand the different DNA tes ng products and tools offered by the available tes ng companies and prior to tes ng determine which company or companies are capable of achieving the genealogist's goal(s). Genetic Testing Comapanies
Companies You may have Major DNA Tes ng Companies: Heard of: 23 and Me • Sorenson Ancestry.Com • Na onal Geographic Society Family Tree DNA Sorenson • SMGF originated in 1999 by James LeVoy Sorenson and professor Dr. Sco Woodward. • Mr. Sorenson envisioned the development of a gene c genealogical blueprint of all humankind • By 2012, SMGF had collected more than 100,000 DNA samples and familial pedigrees from donors around the world, all of which were available in the Sorenson Database • Ini ally used blood test, then mouthwash tes ng • Used a completed 4 genera on pedigree chart • Y-DNA, mt-DNA, X-chromosome, At-DNA databases • Sold to Ancestry 2012 and Discon nued by Ancestry May 2015 National Geographic Society Geno 2.0 Genographic Project
• Project is a not-for-profit, non-medical, mul -year, global ini a ve by Na onal Geographic that uses gene cs as a tool to address anthropological ques ons on a global scale • A research project to elucidate new pa erns of human migra on • Focuses on deep ancestry from an anthropological perspec ve • Uses advanced DNA analysis to work with indigenous communi es and the general public to help answer fundamental ques ons about where we originated and how we came to populate the Earth • First phase of the Genographic Project launched in 2005, enlisted a consor um of 11 global regional scien fic teams who, following regional ins tu onal review scien fic protocols, undertook sample collec on and DNA analysis in their respec ve regions • More than 450,000 members of the public have taken part in the first phase of the project by purchasing a Genographic Project DNA Public Par cipa on Kit to trace their own ancient ancestry • A por on of the proceeds from the sales of the Genographic Project Public Par cipa on Kits returns to support the project research as well as the Genographic Legacy Fund, which offers grants for indigenous and tradi onal community- led language revitaliza on and cultural projects • Building on the science learned from the first phase of the project and using cu ng-edge technology, the Genographic Project entered its second phase in 2012 • The updated Geno 2.0 Public Par cipa on Kit invites members of the public to take part in this second phase of the Genographic Project to learn unprecedented informa on about their ancestral makeup • Geno 2.0 Kits are $199.99 and for educators at $140 per kit, with free standard U.S. shipping • FTDNA is the actual tes ng company Comparing Companies
23 and Me FTDNA Ancestry
Purpose Designed Medical/Genealogical Genealogical/Personal Genealogical/Personal Ancestry Ancestry
Price/Shipping (August $99 Life me $99 Life me $99 (Plus Subscrip on) 2015) $14.95 $ 9.95 $ 9.99
Availability 56 Countries Worldwide US, UK, Ireland, Aus, New Zealand Comparing Companies
23 and Me FTDNA Ancestry
Number of Matches 1,000 Unlimited Unlimited Displayed
Chip Used Customized Illumina Chip Illumina Chip Express Illumina Chip Express
People in Databases 1,000,000 About 150,000 1,000,000 Comparing Companies
23 and Me FTDNA Ancestry
Y-DNA No-Gives Haplogroup Yes-12, 25, 37, 67, 111 No
Mt-DNA No-Gives Haplogroup Yes-HV-1, HV-2, Full Seq No
At-DNA Yes Yes Yes Comparing Companies
23 and Me FTDNA Ancestry Chromosome Browser Yes-Use Family Yes-Use Chromosome NO Available Inheritance Advanced Browser Tool Tool
Chromosome Browser No Yes- Thresholds of: No Adjustable 1 cM, 3 cM, 5 cM, 10 cM
Number Chromosome 5 5 None Browser Comparisons at one me 2.Testing With Consent
Genealogists only obtain DNA for tes ng a er receiving consent, wri en or oral, from the tester In the case of a deceased individual, consent can be obtained from a legal representa ve In the case of a minor, consent can be given by a parent or legal guardian of the minor However, genealogists do not obtain DNA from someone who refuses to undergo tes ng
3: Raw Data
Genealogists believe that testers have an inalienable right to their own DNA test results and raw data, even if someone other than the tester purchased the DNA test. Comparing Companies
23 and Me FTDNA Ancestry
Transfer of Raw Data No Yes-From Ancestry and No From another company 23-Me V3 (Nov 2010-Nov 2013)
Gedcom File Upload Yes Yes Yes Allowed
Gedmatch Uploadable Yes Yes Yes 4: DNA Storage
Genealogists are aware of the DNA storage op ons offered by tes ng companies, and consider the implica ons of storing versus not storing DNA samples for future tes ng Advantages of storing DNA samples include reducing costs associated with future tes ng and/or preserving DNA that can no longer be obtained from an individual However, genealogists are aware that no company can guarantee that stored DNA will be of sufficient quan ty or quality to perform addi onal tes ng Genealogists also understand that a tes ng company may change its storage policy without no ce to the tester. Comparing Companies
23 and Me FTDNA Ancestry
Collec on Method Saliva Cheek Swab Saliva
Storage Yes-Indefinite Yes-Min 25 Years Yes-Indefinite
Projects Supported No Yes No 5: Terms of Service
Genealogists review and understand the terms and condi ons to which the tester consents when purchasing a DNA test. 6: Privacy
Genealogists only test with companies that respect and protect the privacy of testers However, genealogists understand that complete anonymity of DNA tests results can never be guaranteed Most companies state that if a warrant by a police/government official is presented, they will comply FTDNA-Administrators and Privacy
Privacy and confiden ality are a key responsibility for a Group Administrator Group Administrators have access to data and contact informa on of the members in the project This access is necessary to assist par cipants in understanding and interpre ng their results Family Tree DNA expects Group Administrators to protect members’ privacy and confiden ality
7: Access by Third Parties
Genealogists understand that once DNA test results are made publicly available, they can be freely accessed, copied, and analyzed by a third party without permission For example, DNA test results published on a DNA project website are publicly available For this reason, DNA results displayed do not include names of testers
8: Sharing Results
Genealogists respect all limita ons on reviewing and sharing DNA test results imposed at the request of the tester For example, genealogists do not share or otherwise reveal DNA test results (beyond the tools offered by the tes ng company) or other personal informa on (name, address, or email) without the wri en or oral consent of the tester Communications Between Matching Testers
23 and Me FTDNA Ancestry
Contac ng Matches Request Contact Email Address Provided Ancestry Messaging Messaging System System
Average Response Low Fairly High Medium
Average Level of Fairly Low Fairly High Medium Genealogical Knowledge of Matches 9: Scholarship
When lecturing or wri ng about gene c genealogy, genealogists respect the privacy of others. Genealogists priva ze or redact the names of living gene c matches from presenta ons unless the gene c matches have given prior permission or made their results publicly available. Genealogists share DNA test results of living individuals in a work of scholarship only if the tester has given permission or has previously made those results publicly available. Genealogists may confiden ally share an individual’s DNA test results with an editor and/or peer-reviewer of a work of scholarship. Genealogists also disclose any professional rela onship they have with a for-profit DNA tes ng company or service when lecturing or wri ng about gene c genealogy. 10: Health Information
Genealogists understand that DNA tests may have medical implica ons.
Mt-DNA Full Sequence
Big-Y DNA 11: Designating a Bene iciary
Genealogists designate a beneficiary to manage test results and/ or stored DNA in the event of their death or incapacita on 12: Unexpected Results
Genealogists understand that DNA test results, like tradi onal genealogical records, can reveal unexpected informa on about the tester and his or her immediate family, ancestors, and/or descendants For example, both DNA test results and tradi onal genealogical records can reveal misa ributed parentage, adop on, health informa on, previously unknown family members, and errors in well-researched family trees, among other unexpected outcomes. NPE-Non Parental Events
Illegi macy outside Changeling, surrogacy, Anglicisa on of gaelic or Re-marriage: boy taking marriage boy taking sperm dona on, foreign name: man surname of step-father maiden name of mother uninten onal embryo/ taking translated/ baby swap: boy taking phone cally similar surname of mother or name partner
Infidelity within Adop on, incl. ‘hidden’, Formal name-change, Appren ce or slave: marriage: boy taking orphan & foster: boy e.g. to inherit land: man youth taking surname surname of mother’s taking surname of taking maiden name of of master husband guardian wife or mother
NPE-Non Paternal Events
Name-change to hide Rape: boy taking Tenant or vassal: man criminal past, surname of mother or taking surname of embarrassing surname, partner landlord or chief or a stage name: man taking unrelated surname
Informal name-change, Informal name changes Anglicisa on of surnames alias, by-name: man the use of aliases and by- occurred in Ireland in the taking name of farm, names, and name 16th century, in the trade or origin changes by tenants, Sco sh Highlands in the vassals, appren ces and 18th century, and in slaves were prevalent in America in the 18th the 13th-18th through early 20th centuries 13 Different Types of Tests
Genealogists understand that there are different types of DNA tests, including Y-chromosome DNA (“Y-DNA”), mitochondrial DNA (“mtDNA”), Xchromosome (“X-DNA”), and autosomal DNA (“atDNA”) tes ng Each test has advantages and limita ons, and can be used in different ways for genealogical research O en, mul ple types of tes ng can be or must be used to test a hypothesis Prior to tes ng, genealogists determine which type(s) of DNA tes ng is capable of achieving the genealogist's goal(s). Comparing Companies
23 and Me FTDNA Ancestry Y-DNA No-Gives Haplogroup Yes-12, 25, 37, 67, 111 No
Mt-DNA No-Gives Haplogroup Yes-HV-1, HV-2, Full Seq No
At-DNA Yes Yes Yes
X-Chromosome Yes Yes No Comparing Companies
23 and Me FTDNA Ancestry # Y-Chromosome SNPs 2329 None 885 (Labeled as Chromosome 24)
# mt-DNA Chromosome 3154 None None SNPS
# X-Chromosome SNPS 19,487 18,091 17,604 (Labeled Chromosome 23) plus 440 SNPs labeled Chromosome 25
At-DNA Chromosome SNPS 577,382 708,092 682,549 14: Y-DNA and mtDNA Tests
Genealogists understand the current recommended minimum YDNA and mtDNA tes ng standards, guidelines for which are currently being dra ed and will be found at www.Gene cGenealogyStandards.com when completed Genealogists are aware that even a er an ini al mtDNA or Y-DNA test, addi onal tes ng (e.g., addi onal markers and/or sequencing) might be necessary in order to achieve the genealogist's goal(s). 15: Limitations of Y-DNA Testing
Genealogists understand that Y-DNA test results reveal rela onships among testers through their direct paternal lines However, iden fica on of the exact rela onship or most recent common ancestor (“MRCA”) cannot be determined by YDNA test results alone. 16: Limitations of mtDNA Testing
Genealogists understand that mtDNA test results reveal rela onships among testers through their direct maternal lines However, iden fica on of the exact rela onship or MRCA cannot be determined by mtDNA test results alone
17: Limitations of Autosomal DNA Testing Genealogists understand that autosomal DNA test results, alone, can be used to confirm or deny first degree rela onships with certainty (parent/child or full siblings) Genealogists understand that analysis of genealogical rela onships beyond the first degree requires the combina on of DNA test results and tradi onal genealogical records
18: Limitations of Ethnicity Analysis
Genealogists understand that ethnicity analysis is limited by the proprietary reference popula on database and algorithm u lized by the tes ng company, and thus understand that es mates can vary Genealogists further understand that because individuals do not possess DNA from all ancestors, an ethnicity es mate can neither be predicted nor evaluated based solely on a genealogical family tree. Ethnicity Analysis 23 and Me FTDNA Ancestry Yes, using Ancestry Biogeographical Composi on, Yes, using the My Yes, using the Gene c Ethnicity ancestry analysis Global Similarity, Ancestry Origins feature feature Finder features
Chromosomes painted Yes, using Ancestry according to ethnic or Composi on's No No regional Chromosome View
Overall Ra ng of Overall ra ng: 7 Overall Ra ng: 3.5 Overall Ra ng: 3 Biogeographical Analysis Ancestry Composi on My Origins Bri sh Isles Over- es mated for rated on a 1-10 scale Overall European Lacks specificity, people with Con nental Europe Predic ons not op mal par cularly for ancestry with 10 being Europe excellent and 1 being European ancestry predic ons poor tend to be inaccurate
Ethnicity Analysis 23 and Me FTDNA Ancestry
The Ancestry Composi on feature Consistently overes mates offers a map view which displays the Central European and one's ancestral components from Scandinavian ancestral various regions of the world as of components for people 500 years ago whose ancestors were from Overall accuracy the Bri sh Isles and sophis ca on Split view for those who also have one or both parents who have been Lacks specificity, par cularly The ancestral component of the tested by 23andMe, and a for Europe. from the Bri sh Isles is biogeographical breakdown by chromosome. overes mated for people ancestry whose ancestors were from Overall accuracy is reasonably good con nental Europe Predic ons in Europe not op mal Ancestry Finder provides Overall, the European breakdown of one's ancestry by ancestry predic ons tend to country. be inaccurate. 23 and Me Ancestry Composition 23 and Me Chromosome Paint FTDNA –My Origins Ancestry Ethnicity Estimate 19: Interpretation of DNA Test Results
Genealogists understand that there is frequently more than one possible interpreta on of DNA test results. Some mes, but not always, these possible explana ons can be narrowed by addi onal tes ng and/or documentary genealogical research. Genealogists further understand that any analysis of DNA test results is necessarily dependent upon other informa on, including informa on from the tester, and that the analysis is only as reliable as the informa on upon which it is based 20:DNA as Part of Genealogical Proof
Genealogists understand that no single piece of evidence, including evidence gathered from DNA tes ng, alone cons tutes genealogical proof. Establishing genealogical proof requires thorough research in reliable relevant records, complete and accurate documenta on and source cita on, analysis and correla on of all evidence, resolu on of conflicts caused by contradictory informa on, and a soundly reasoned wri en conclusion For more informa on, see the Genealogical Proof Standard (www.bcgcer fica on.org ). Genealogical Proof Standard
The Genealogical Proof Standard
Reasonably Exhaus ve Search
Complete and Accurate Cita on of Sources
Analysis and Correla on of the Collected Informa on
Resolu on of Conflic ng Evidence
Soundly Reasoned, Coherently Wri en Conclusion