Genetic ancestry testing and the end of donor anonymity

Over 30 million people around the world have now taken a direct-to-consumer genetic test with companies such as AncestryDNA and 23andMe. These tests can provide information about an individual’s genetic ancestry and health but they also allow the user to opt in to receive matches with genetic relatives. As a result, donor-conceived individuals can now take a DNA test to search for their DNA relatives and identify their genetic parent. Identities can be inferred through networks of genetic cousins even if the donor is not in the database. The chances of success are increasing all the time and sometimes people are matched at the outset with a half-sibling or genetic parent. Donor origins can also be discovered unexpectedly through genetic testing if the child has not been told that they were donor conceived. The massive growth of the consumer DNA databases in the last few years has important implications for everyone working in the fertility industry and for parents who are considering using egg or sperm donation to start or complete their family. DNA testing has effectively ended anonymity for all donors regardless of the legislation in place at the time. How do we deal with the challenges of this new reality? Whose responsibility is it to provide support and counselling for those affected? How should the fertility sector adap

How successful is commercial DNA testing in resolving British & Irish cases of unknown parentage?

This study is the first to characterise the type of people trying to resolve unknown parentage cases in the UK and Ireland, and how successful their efforts are, using commercial DTC (direct-to-consumer) DNA tests. A survey was conducted of individuals born in the UK or Ireland, or with a biological parent from the UK or Ireland, who had used genetic genealogy as a part of their search for one or both biological parents. Success rates were high with DNA assisting the identification of a birth parent in 48-55% of cases. In an additional 20-21% of cases, DNA identified grandparents or more distant ancestors. The majority of those identifying a biological parent did so within 6 months of receiving their DNA results (39-55% of cases), and within 2 years, 78-87%% had identified a biological parent. When they first got their results, 40% had very close matches (half-first cousin or closer), an additional 33% had close matches in the second cousin range, and the remaining 27% had more distant matches. The survey also attempted to assess the likelihood of success of the combined use of GEDmatch and FTDNA in IGG (investigative genetic genealogy) cases in Britain and Ireland and found that potentially IGG-suitable matches were present in about 60% of cases. These results complement those of earlier studies and have important implications for social policy in the UK and Ireland

The Rise and Fall of BritainsDNA: A Tale of Misleading Claims, Media Manipulation and Threats to Academic Freedom

Direct-to-consumer genetic ancestry testing is a new and growing industry that has gained widespread media coverage and public interest. Its scientific base is in the fields of population and evolutionary genetics and it has benefitted considerably from recent advances in rapid and cost-effective DNA typing technologies. There is a considerable body of scientific literature on the use of genetic data to make inferences about human population history, although publications on inferring the ancestry of specific individuals are rarer. Population geneticists have questioned the scientific validity of some population history inference approaches, particularly those of a more interpretative nature. These controversies have spilled over into commercial genetic ancestry testing, with some companies making sensational claims about their products. One such company—BritainsDNA—made a number of dubious claims both directly to its customers and in the media. Here we outline our scientific concerns, document the exchanges between us, BritainsDNA and the BBC, and discuss the issues raised about media promotion of commercial enterprises, academic freedom of expression, science and pseudoscience and the genetic ancestry testing industry. We provide a detailed account of this case as a resource for historians and sociologists of science, and to shape public understanding, media reporting and scientific scrutiny of the commercial use of population and evolutionary genetics

The impact of investigative genetic genealogy: perceptions of UK professional and public stakeholders

Law enforcement authorities in the United States have been increasingly employing genealogists to search genetic genealogy databases with unknown origin DNA from unidentified human remains, or from a serious crime scene, to identify the victim or a potential suspected perpetrator. There are benefits to this form of searching in terms of public safety and bringing justice to victims of crime, and such searches are legally permissible. However, ethical questions arise regarding whether database users have a reasonable expectation that their DNA information will be searched by law enforcement in this way, and so, in turn, questions about consent and privacy have emerged. While initial surveys suggest generally positive support for using genetic genealogy methods, less work has explored the underlying reasons behind this support. We were interested in exploring the perceptions of key stakeholders in the UK with relation to this, specifically for the purposes of solving serious crimes. Through a series of 45 predominantly UK public and stakeholder interviews, we show a general support for the technology, though interviewees were also able to articulate a range of social and ethical concerns. Support was associated with the extent interviewees perceived the technology as impacting the current use of genetic genealogy databases in terms of individual genealogy database users, the genealogy community, and/or genetic genealogy and law enforcement practices. We present our findings and discuss their implications

Problematising consent: searching genetic genealogy databases for law enforcement purposes

Genetic genealogy databases have become particularly attractive to law enforcement agencies, especially in the United States (US), which have started to employ genealogists to search them with unknown origin DNA from unidentified human remains (suicides, missing persons) or from a serious crime scene, to help identify the victim, or a potential suspected perpetrator, respectively. While this investigative genetic genealogy (IGG) technique holds much promise, its use – particularly during serious criminal investigations – has sparked a range of social and ethical concerns. Receiving consent for IGG from genetic genealogy database users has been argued as a way to address such concerns. While critiques of the importance of consent are well documented in the biomedical and forensic biobanking literature, this has not been explored for IGG. We sought to address this gap by exploring the views of UK stakeholders. Our research question was: what are UK public and professional stakeholders’ views about the importance of the consent process for IGG when used for serious criminal cases? The methodological approach was interview-based and exploratory. Our analysis identified that all interviewees stressed the importance of consent, though interviewees’ narratives pointed to inadequacies of individual-based consent as an ethical panacea for IGG

Investigative genetic genealogy : Current methods, knowledge and practice

Investigative genetic genealogy (IGG) has emerged as a new, rapidly growing field of forensic science. We describe the process whereby dense SNP data, commonly comprising more than half a million markers, are employed to infer distant relationships. By distant we refer to degrees of relatedness exceeding that of first cousins. We review how methods of relationship matching and SNP analysis on an enlarged scale are used in a forensic setting to identify a suspect in a criminal investigation or a missing person. There is currently a strong need in forensic genetics not only to understand the underlying models to infer relatedness but also to fully explore the DNA technologies and data used in IGG. This review brings together many of the topics and examines their effectiveness and operational limits, while suggesting future directions for their forensic validation. We further investigated the methods used by the major direct-to-consumer (DTC) genetic ancestry testing companies as well as submitting a questionnaire where providers of forensic genetic genealogy summarized their operation/ services. Although most of the DTC market, and genetic genealogy in general, has undisclosed, proprietary algorithms we review the current knowledge where information has been discussed and published more openly

An empirical investigation into the effectiveness of genetic genealogy to identify individuals in the UK

The use of genetic genealogy techniques to identify Joseph James DeAngelo as the prime suspect in the Golden State Killer case in 2018 has opened up a new approach to investigation of cold cases. Since that breakthrough, genetic genealogy methods have been reported to be applied to around 100 cases. To date, all of these reports relate to investigations in the US, where the high uptake of “direct-to-consumer” (DTC) genetic testing by individuals conducting private ancestral research has provided the necessary publicly available data for successful forensic investigations. We have conducted a study to assess the likely effectiveness of genetic genealogy techniques if applied to investigations in the UK. Ten volunteers provided their own SNP array data, downloaded from a DTC provider of their choice. These data sets were anonymised and uploaded to the GEDmatch Genesis genealogy website, mimicking data sets from unsourced crime samples or unidentified human remains. A team of experienced genealogists then attempted to identify the donors of the anonymised data sets by working with matches on the database and identifying points where the matches’ trees intersect to determine their shared family lineages which were further investigated using traditional resources (such as birth, marriage, death and census records, social media and online family trees). Through these methods, four of the ten donors were identified, at least to the level of one of a set of siblings. This confirms that, despite the over-representation of US citizens on publicly accessible genealogy databases, there is still potential for effective use in investigations outside the US where legislation permits. One of our four identified individuals was of Indian heritage (via St Vincent and the Grenadines) highlighting that in the right circumstances individuals of non-European origin can be identified