Written evidence submitted by the International Society of Genetic Genealogy (ISOGG) (CGN0010)

The International Society of Genetic Genealogy (ISOGG) is a non-commercial, non-profit organisation that advocates for and educates about the use of genetics as a tool for genealogical research.  Founded in 2005, ISOGG today has over 10,000 private members resident in over 70 countries (see www.isogg.org).

As UK members of ISOGG we welcome the opportunity to submit evidence to the Science and Technology Committee to help them assess what safeguards need to be put in place to protect those who undertake commercial genomic tests from DTC (Direct To Consumer) companies.  Recognising that the Committee is interested primarily in tests undertaken for health reasons, this submission addresses commercial genomic tests that are taken for ancestry research (a.k.a. genetic genealogy).

Four supplementary Annexees are attached that give some background to these genetic genealogy tests and the uses to which they are being put.

The Committee should note that:

-        Commercial ancestry tests have been available since 2000; over 30 million such tests have now been taken, representing a massive data pool for private and public research (see growth graph in Annexe 3). 

-        Less than 20% of these commercial DNA tests are undertaken for health reasons.[1]  The majority of people take such tests for ancestry research.

-        These tests bring significant benefits to genealogy, perhaps the world’s most popular hobby.  DNA is used as a tool to help people verify their genealogical research and break through “brick walls”.  It can reveal fascinating aspects of their ancestry and geographical origins of which they had never been unaware (see Annexe 2).

-        The popularity of DNA testing for ancestry research has resulted in the rise of genetic tourism, with people travelling to those countries from which their ancestry arose. This is a clear benefit to the UK economy.

-        Genetic genealogy as a Citizen Science is proving valuable in other fields of academic, social and humanitarian research. It has helped delineate the fine structure of the human Y-chromosome tree; it has helped adoptees tracing relatives and assisted law enforcement agencies track down serial killers; it also has clear potential to assist in mass grave situations, such as those encountered in natural disasters, and identifying the unmarked burials of children (in former Children’s Homes) and the remains of military personnel (discovered on former fields of battle) (see Annexe 2).

-        With respect to the NHS, genetic genealogy may specifically help increase the well-being of adoptees who have found their birth families through DNA, and thus may decrease the need for counselling.

Safeguards already in place to protect those who get tested include:

-        ISOGG has led the way in educating the general public about DNA for ancestry research. A summary of the key resources provided by ISOGG members is included in Annexe 4.  These include the ISOGG Wiki, a variety of Facebook groups (collective membership is well over 100,000), national & international conferences (the lectures from which are freely available on YouTube), and a variety of different blogs. All these resources keep the community informed of new developments and contribute to the growth of genetic genealogy as a citizen science.

-        All of the major commercial DTC companies (see Annexe 3) offer comprehensive advice and support via their websites and various associated methods, e.g. community noticeboards, Facebook groups, mailing lists, conferences, etc.

-        All these companies have increasingly stringent Terms of Service and Privacy Policies that are continuously evolving to meet ever-changing social and legal circumstances (e.g. GDPR). In addition, all of the major DTC companies are suitably accredited by the relevant regulatory agencies in terms of the laboratory conditions under which the DNA testing is performed.

-        Several codes of practice have been developed (such as those developed by the Future of Privacy Forum) and are kept under review by the major DTC companies and/or user groups (see Annexe 4).

-        The EU General Data Protection Regulation (2016) has prompted updating the above control instruments.

-        Advice to potential test customers is available from many user groups who offer gratis, up-to-date advice on tests to take or avoid, and the possible associated risks (Annexe 4).

Notwithstanding the above, some residual risks remain.  These risks include:

-        From time to time irresponsible DTC companies introduce new tests with misleading expectations; however experience has shown that such innovations are soon criticised by user groups, and such companies usually fail quickly in the competitive market.

-        Although responsible DTC companies warn that tests can lead to unexpected surprises and disappointments, such developments occasionally lead to a need for counselling.  The Committee may wish to consider who should provide such counselling.

-        A recent development in USA is the use of commercial test data by law enforcement agencies.  Additional safeguards have been introduced (specifically by Gedmatch and FamilyTreeDNA), and are still being refined.  As the UK Biometrics and Forensics Ethics Group noted in September and December 2018  (https://www.gov.uk/government/organisations/biometrics-and-forensics-ethics-group/about/membership) there are a number of differences between the USA and UK that need consideration, and the cautious approach being adopted by this Group is appropriate. ISOGG could provide input if this approach was to be considered in the UK.

Apart from these three residual risks, the UK members of ISOGG believe that the existing safeguards outlined above, largely based on GDPR and self-regulation, can continue to respond satisfactorily to minimise risks emerging from the increasing use of commercial genetic ancestry testing and its applications.[2]  Overly restrictive controls of this diverse, transnational, well-established, rapidly evolving and socially beneficial activity would be both unnecessary and counter-productive.

Annexes attached:               1 Background note on genetic ancestry testing

                                                2  Categories of application of genetic ancestry tests

              3  Companies offering genetic ancestry tests

              4  Codes of practice, organisations and events providing advice on genetic ancestry testing

Annexe 1

Background note on genetic ancestry testing – how DNA can help family tree research

There are three main types of DNA test that can be used for family tree research:

-        Mitochondrial (mt) DNA, the first test to be developed, which only passes down the mother-mother-mother line;

-        Y-DNA, which (like surnames) is only borne by males and only passes down the father-father-father line; and

-        Autosomal (at) DNA, which is inherited from all one’s ancestors but in practice becomes so diluted that it is only useful for ancestral purposes for about the past five generations.

The choice of which test is most appropriate very much depends on the questions you want answered.  Y-DNA has proved to be a very useful tool for surname research, whilst autosomal DNA testing allows people to connect with genetic cousins and collaborate on their family tree research. 

A useful summary of the potential benefits of each type of test for genealogical purposes can be found at http://ggi2013.blogspot.com/p/which-dna-test-is-best-for-me.html .

Annexe 2      Possible uses of genetic ancestry tests.

Commercial DNA tests undertaken primarily for ancestry research are beneficial in many different ways:

1. They can identify close genetic matches who are in effect “lost cousins”, with whom the individual researcher can collaborate and hopefully make breakthroughs with their own genealogical research
2. Y-DNA is useful for studying the emergence and evolution of particular surnames (as they both follow the direct male line).  This has also helped scholars link the genetic evidence to the documentary evidence from ancient manuscripts (such as the Irish Annals and Scottish pedigrees);
3. Y-DNA testing has helped delineate the finer branches of the Y-chromosome tree and has contributed significantly to our understanding of population migrations within UK and Ireland and around the world.  See for example the ISOGG Y-DNA Haplotree (https://isogg.org/tree/) and the Scottish Y-DNA Project

(https://www.familytreedna.com/groups/scottishdna/about)

4. Geographical origin testing (aka “ethnic makeup” assessment / population admixture / anthropology studies).  Many people undertake testing simply to see “where their DNA has come from”.
5. Helping adoptees and foundlings trace their birth families. The same techniques that genealogists use to find “lost cousins” can be applied to help adoptees find their “lost cousins”, which in turn allows them to hone in on their birth family.  Over the last ten years, a whole industry has emerged from the genetic genealogy community to help adoptees in this regard. One of several dedicated Facebook groups (DNA Detectives) now have over 111,000 members.  An analysis of 1200 DNA-tested adoptees in 2016 revealed that 50% of them had found at least one birth parent in the previous 2 years. 

a.               DNA Detectives Facebook group (https://www.facebook.com/groups/DNADetectives/)

b.               Adoptee Survey (https://thegeneticgenealogist.com/2017/01/08/adoptee-testing-a-study/)

c.               Solving adoption mysteries (http://dnaandfamilytreeresearch.blogspot.com/p/d.html)

6.               Identifying the remains of soldiers from the field of battle.  Forensic DNA testing has been used to help identify the remains of soldiers on the Western Front (e.g. the WWI soldiers from Frommelles) and there is a real possibility that genetic genealogy databases can help too.  The major sticking point currently is the quantity of DNA recovered from the remains, but as technical improvements are developing so rapidly, this is a problem that will soon be overcome, paving the way for DNA extracted from the sets of remains to be compared to DNA results in the public DTC databases (Gedmatch, FTDNA).

a.                Using DNA to identify WWI soldiers (https://youtube/R76Ubg-b_Sc)

b.              The Fromelles soldiers (https://www.minister.defence.gov.au/minister/dchester/media-releases/nine-australian-soldiers-identified-battle-fromelles)

7. Identifying remains in other mass grave situations.  The techniques developed for adoptee research may be applied to mass grave situations, such as those associated with natural or man-made disasters (e.g. the California wild fires, the World Trade Centre attack, etc.).  They may also be useful identifying the remains of children buried on the site of former children’s homes (e.g. Tuam, Co. Galway, Ireland).
8. Helping with donor conception identification, in accordance with https://www.dcnetwork.org/.  See also ‘The end of donor anonymity(https://www.ncbi.nlm.nih.gov/pubmed/27073260)
9. Helping forensic investigations to identify unidentified human remains, serial killers and rapists.  Using the same techniques being used to help adoptees find their birth families, law enforcement (“LE”) agencies in the USA have tracked down prime suspects in cases involving serial killers and rapists.  Over 50 arrests have been made since April 2018, including the alleged Golden State Killer and an unidentified young woman known as “Buckskin Girl” who had been murdered 37 years previously.

All DTC companies warn their customers that national LE agencies can obtain court orders.  One company, FamilyTreeDNA, is now extending cooperation with LE agencies to allow comparison of DNA tests of possible violent crime perpetrators with their database of about 2 million customers.  They have revised their Terms of Service for existing EU members to include an optional customer “opt in” for such comparisons. Law enforcement DNA “kits” are vetted by the company before being added to the database.   

1.               Golden State Killer (https://www.npr.org/sections/thetwo-way/2018/04/27/606624218/in-hunt-for-golden-state-killer-investigators-uploaded-his-dna-to-genealogy-site?t=1542020211174)
2. Buckskin Girl (https://abcnews.go.com/US/body-buckskin-girl-found-ohio-1981-identified-arkansas/story?id=54417156)
3.               Public reaction to use of public DNA databases by law enforcement … (http://dnaandfamilytreeresearch.blogspot.com/2018/11/how-do-you-feel-about-your-dna-being.html)
4. FamilyTreeDNA’s revised Terms of Service (https://www.familytreedna.com/legal/terms-of-service)

10. Other applications.  Other avenues of social and humanitarian research may evolve that could benefit immensely from the massive data pool that has been built up by genealogists who have purchased genetic genealogy tests.  GDPR prevents such opportunities being exploited without clear customer consent, but overly restrictive regulation could stifle these developments.

Annexe 3

Companies offering genetic ancestry testing

Over the past decade there has been exponential growth in commercial genetic ancestry testing, a.k.a. Direct To Consumer (DTC) DNA testing.  The main companies involved (in order of database size) are Ancestry, 23andMe, MyHeritage, FamilyTreeDNA, and LivingDNA (a UK-based company and the last of the major companies to enter the market).  The graph below charts this growth and the relative sizes of the various company databases. The most recent version of this graph can be found at https://thednageek.com/dna-tests/.

Details of some of the companies and the tests they currently offer are thus:[3]

In addition, there is a website called Gedmatch (established and operated by two independent genetic genealogists) which allows uploads of DNA data from all the major companies so that the results can be compared across companies.  For further details see the ISOGG Wiki pages,[4] which list many smaller companies, together with DNA testing companies no longer trading.  While the databases of test results held by the above companies are dominated by tests of US residents, all include significant numbers of UK residents (as well as people with UK ancestry), and it is the size of the company’s relevant database which is one of the principal criteria to be considered when selecting a testing company.

All the above companies have comprehensive Terms of Service and Privacy Statements that take account of data privacy and include compliance with GDPR. 

Of these companies, only 23andMe are marketing health-related tests.  While the tests of some of these companies may include a few markers which may have health-related relevance, only those of 23andMe promote tests addressing predictive health issues. 

All these companies explain their products and offer extensive after-sales services.  Each has its strengths and weaknesses, and are aware that customer satisfaction is dependant on the quality of their services and their custody of customer data.  GDPR has had a major impact, with some marginal improvements in privacy controls being offset by increasingly complex documentation and procedures, forcing the withdrawal of some high-quality supporting services from the market, and causing several quality USA publications to suspend circulation to EU countries.  Further overly-restrictive controls could stifle research and curtail competition between companies offering genetic ancestry testing and other support services. 

Annexe 4

Codes of practice, organisations, events and resources providing advice on genetic ancestry testing

Codes of Practice  https://isogg.org/wiki/Ethics,_guidelines_and_standards provides guidance for genetic genealogists.  The following codes of practice are particularly relevant:

-        Genetic Genealogy Standards: a 3-page code of practice published in January 2015 by a committee of 12 US experts to provide ethical and usage standards for the genealogical community to follow when purchasing, recommending, sharing, or writing about the results of DNA testing for ancestry.  See http://www.geneticgenealogystandards.com/

-        Interim Guidance on GDPR for DNA Project Administrators: a 17-slide code of practice published in March 2018 by an ISOGG Study Group to provide guidance on GDPR for voluntary Project administrators.  See https://isogg.org/wiki/General_Data_Protection_Regulation  < Advice to Project Administrators

-        Best Practices for Consumer Genetic Testing Services: a 19-page code of practice published in July 2018 by the Future of Privacy Forum, a Washington-based not-for-profit think-tank and advocacy group based with membership from academics, consumer advocates and corporations.  See

https://fpf.org/wp-content/uploads/2018/07/Privacy-Best-Practices-for-Consumer-Genetic-Testing-Services-FINAL.pdf

Organisations offering advice to people interested in commercial genetic genealogy test results include:

-              The International Society of Genetic Genealogy (https://isogg.org).  ISOGG’s mission is to “advocate for and educate about the use of genetics as a tool for genealogical research while promoting a supportive network for genetic genealogists”.  Many ISOGG members offer free advice at genealogy conferences and events to individuals considering DTC DNA testing; some have educational blogs that explain the different aspects of genetic genealogy (https://isogg.org/wiki/Genetic_genealogy_blogs); and others contribute to dedicated Mailing Lists or Facebook groups offering advice and support (https://isogg.org/wiki/Genetic_genealogy_mailing_lists_and_Facebook_groups – see below).

The ISOGG Wiki is a dedicated one-stop website (https://isogg.org/wiki) compiled and managed by ISOGG volunteers that provides extensive free information and advice relating to all aspects of genetic genealogy.  The pages “Before you Buy” and “Choosing a DNA Testing Company” are particularly relevant in the present context.  It also is a signposting service to other sources of information, providing a comprehensive list of resources for genetic genealogy (https://isogg.org/wiki/Portal:Genetic_Genealogy_Resources).

-               The Federation of Family History Societies (http://www.ffhs.org.uk) and the Scottish Association of Family History Societies (https://www.safhs.org.uk) can put individuals in touch with about 180 local societies; 

-               The Guild of One Name Studies (https://one-name.org/about-the-guild/) and the Society of Genealogists (http://www.sog.org.uk) are two national organisations who can also help;

-              Some testing companies facilitate several thousand focussed DNA projects administered by volunteers who co-ordinate free on-line advice and support for inexperienced customers and potential customers.

Events  Frequent events are organised at national, regional and local levels for family history enthusiasts, providing advice on genetic ancestry testing, what test best meets their specific needs, and how to interpret the results.  By way of example the following events in the UK this year at national level include vendor stands, an ISOGG advisory stand, and lectures on DNA tests and their interpretation:

-             February 15-16                International Conference Centre, Belfast                Genetic Genealogy Ireland 8

-             April 26-27                Alexandra Palace, London              Family Tree Live

-             June 6-7              National Exhibition Centre,  Birmingham                    The Genealogy Show

-             October 24-26              Excel Centre, London              RootsTech London 2019

YouTube Channels  Videos of the DNA Lectures organized by ISOGG members in the UK and Ireland are provided free of charge as a service to the international community on two dedicated YouTube channels:

-        DNA Lectures - Who Do You Think You Are-Live!

(https://www.youtube.com/channel/UC7HQSiSkiy7ujlkgQER1FYw/videos)

-                Genetic Genealogy Ireland (https://www.youtube.com/channel/UCHnW2NAfPIA2KUipZ_PlUlw/videos)

Facebook Groups  The many Facebook groups dedicated to genetic genealogy include:

-        ISOGG (17,000+ members) (https://www.facebook.com/groups/isogg/)

-        DNA Help for Genealogy UK (7000+ members) (https://www.facebook.com/groups/AncestryUKDNA/)

-        Genetic Genealogy Hints & Tips (54,000+)

(https://www.facebook.com/groups/geneticgenealogytipsandtechniques/)

-        Genetic Genealogy Ireland (5000+) (https://www.facebook.com/groups/geneticgenealogyireland/)

-        DNA Detectives (111,000+) (https://www.facebook.com/groups/DNADetectives/)

-        Y-DNA Project Administrators (1000+) (https://www.facebook.com/groups/43927947190/)

April 2019