A market in the making: the past, present and future of direct-to-consumer genomics

Hogarth, Stuart; Saukko, Paula

doi:10.1080/14636778.2017.1354692

Cited by 40 publications

(22 citation statements)

References 43 publications

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“…As genotyping costs have fallen over the last decade, direct-to-consumer (DTC) genetic testing (Hogarth et al, 2008; Hogarth and Saukko, 2017; Khan and Mittelman, 2018) has become a major industry, with over 26 million people enrolled in the databases of the five largest companies (Regalado, 2019). One of the major applications of DTC genetics has been genetic genealogy.…”

Section: Introductionmentioning

confidence: 99%

Attacks on genetic privacy via uploads to genealogical databases

Edge

Coop

2019

Preprint

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7Direct-to-consumer (DTC) genetics services are increasingly popular for genetic genealogy, with 8 tens of millions of customers as of 2019. Several DTC genealogy services allow users to upload 9 their own genetic datasets in order to search for genetic relatives. A user and a target person in 10 the database are identified as genetic relatives if the user's uploaded genome shares one or more 11 sufficiently long segments in common with that of the target person-that is, if the two genomes 12 share one or more long regions identical by state (IBS). IBS matches reveal some information 13 about the genotypes of the target person, particularly if the chromosomal locations of IBS matches 14 are shared with the uploader. Here, we describe several methods by which an adversary who 15 wants to learn the genotypes of people in the database can do so by uploading multiple datasets. 16Depending on the methods used for IBS matching and the information about IBS segments 17 returned to the user, substantial information about users' genotypes can be revealed with a few 18 hundred uploaded datasets. For example, using a method we call IBS tiling, we estimate that an 19 adversary who uploads approximately 900 publicly available genomes could recover at least one 20 allele at SNP sites across up to 82% of the genome of a median person of European ancestries. 21In databases that detect IBS segments using unphased genotypes, approximately 100 uploads of 22 falsified datasets can reveal enough genetic information to allow accurate genome-wide imputation 23 of every person in the database. We provide simple-to-implement suggestions that will prevent the 24 exploits we describe and discuss our results in light of recent trends in genetic privacy, including 25 the recent use of uploads to DTC genetic genealogy services by law enforcement. 26(Regalado, 2019). One of the major applications of DTC genetics has been genetic genealogy. 31Customers of companies such as 23andMe and Ancestry, once they are genotyped, can view a list 32 of other customers who are likely to be genetic relatives. These putative relatives' full names are 33 often given, and sometimes contact details are given as well. Such genealogical matching services 34 are of interest to people who want to find distant genetic relatives to extend their family tree, and 35 can be particularly useful to people who otherwise may not have information about their genetic 36 relatives, such as adoptees or the biological children of sperm donors. Several genetic genealogy 37 services-including GEDmatch, MyHeritage, FamilyTreeDNA, and LivingDNA (Table 1)-allow 38 users to upload their own genetic data if they have been genotyped by another company. These 39 entities generally offer some subset of their services at no charge to uploaders, which helps to 40 grow their databases. Upload services have also been used by law enforcement, with the goal of 41 identifying relatives of the source of a crime-scene sample (Erlich et al., 2018; Edge and Coop, 42 2019), prompting discussion abo...

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Section: Introductionmentioning

confidence: 99%

Attacks on genetic privacy via uploads to genealogical databases

Edge

Coop

2019

Preprint

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“…Since the mid-2000s, companies have been marketing various forms of personal genomic (DNA) testing to the public, typically online [ 1 ]. Termed by experts as direct-to-consumer genetic tests, they are marketed for a variety of purposes, offering a spectrum of information to consumers.…”

Section: Introductionmentioning

confidence: 99%

Australians’ views on personal genomic testing: focus group findings from the Genioz study

et al. 2018

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Personal genomic testing provides healthy individuals with access to information about their genetic makeup for purposes including ancestry, paternity, sporting ability and health. Such tests are available commercially and globally, with accessibility expected to continue to grow, including in Australia; yet little is known of the views/expectations of Australians. Focus groups were conducted within a multi-stage, cross-disciplinary project (Genioz) to explore this. In mid-2015, 56 members of the public participated in seven focus groups, allocated into three age groups: 18–24, 25–49, and ≥50 years. Three researchers coded transcripts independently and generated themes. Awareness of personal genomic testing was low, but most could deduce what “personal genomics” might entail. Very few had heard of the term “direct-to-consumer” testing, which has implications for organisations developing information to support individuals in their decision-making. Participants’ understanding of genetics was varied and drawn from several sources. There were diverse perceptions of the relative influence of genetics and environment on health, mental health, behavior, talent, or personality. Views about having a personal genomic test were mixed, with greater interest in health-related tests if they believed there was a reason for doing so. However, many expressed scepticisms about the types of tests available, and how the information might be used; concerns were also raised about privacy and the potential for discrimination. These exploratory findings inform subsequent stages of the Genioz study, thereby contributing to strategies of supporting Australians to understand and make meaningful and well-considered decisions about the benefits, harms, and implications of personal genomic tests.

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“…Numerous concerns about the concept of DTC-GT have been debated in the literature and by regulators (Covolo et al 2015;Hall et al 2017), including, among others, lack of medical supervision and genetic counseling, inadequate informed consent, questionable analytic and clinical validity, risks of misdiagnosis and overdiagnosis, negative impacts on family members, and on public health (Badalato, Kalokairinou, and Borry 2017;Hogarth and Saukko 2017). As a consequence, DTC-GT has given rise to regulatory attempts at limiting the availability of such services (Borry, Cornel, and Howard 2010;Borry et al 2012;Curnutte and Testa 2012).…”

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confidence: 99%

Genes wide open: Data sharing and the social gradient of genomic privacy

Haeusermann

Fadda

Blasimme

et al. 2018

AJOB Empirical Bioethics

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This study reports on 13 semistructured in-depth interviews to qualitatively explore the experiences of individuals who publicly shared their direct-to-consumer genetic testing results on the platform openSNP. In particular, we focused on interviewees' understanding of privacy. Participants reported that the likelihood and the magnitude of privacy harms depend on gender, ethnicity, sexual orientation, the stigma associated with certain clinical conditions, the existence of adequate legislation, and the nature of national health care systems. Some participants expressed the view that those who enjoy higher socioeconomic status or are better protected by their country's legislation have a responsibility to share their genetic data. Our study shows that people who share their genetic data publicly online-far from being insensitive to privacy risks-have a complex understanding of the social, relational, and contextual nature of genetic privacy.

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A market in the making: the past, present and future of direct-to-consumer genomics

Cited by 40 publications

References 43 publications

Attacks on genetic privacy via uploads to genealogical databases

Attacks on genetic privacy via uploads to genealogical databases

Australians’ views on personal genomic testing: focus group findings from the Genioz study

Genes wide open: Data sharing and the social gradient of genomic privacy

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