AUG 20, 2014 11:45 AM PDT

Ethical, Legal and Social Issues of Direct-to-Consumer Genetic Testing

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  • Senior Researcher, Uppsala University, Centre for Research Ethics & Bioethics
      Heidi Carmen Howard is a senior researcher at the Centre for Research Ethics and Bioethics at Uppsala University (Sweden).She received her undergraduate and doctoral degrees in Biology from McGill University (Montréal, Canada). The focus of her PhD was neurogenetics and she continued her genetics training in psychiatric genetics at the Centre for Genomic Regulation in Barcelona (Spain) and at the Douglas Hospital in Montréal (Canada). With an Erasmus Mundus fellowship, she completed the Erasmus Mundus Master of Bioethics programme in 2008. She then spent four years with the support of the European Commission FP7 Marie Curie Career Development Awards (2009-2011; 2011-2013) which allowed her to work on the ethical, legal and social issues (ELSI) related to genetics and genomics as well as biobanking at KULeuven (Belgium) and inserm (France) respectively.Currently, her main areas of research are the ELSI of risk information in genetics and genomics, direct-to-consumer genetic testing, public health genomics, new genomic technologies, participant-centric research initiatives and the translation of genomics from the laboratory to the clinic.Dr. Howard is also an invited scholar at the Centre of Genomics and Policy at McGill University and a member of the Public and Professional Policy Committee of the European Society of Human Genetics.


    Direct-to-consumer (DTC) genetic testing can be understood as including two related aspects: first, the advertising of genetic tests directly to consumers; and second, the direct access or ordering of genetic tests outside of the traditional healthcare setting and often without the intermediate of a healthcare professional. The types of tests sold by these companies include single gene tests, multiple genes tests and genome-wide-testing also known as personal genome scanning, whereby hundreds of thousands to millions of genetic markers (often single nucleotide polymorphisms) are tested throughout the genome. Although not so common, some companies are also now selling whole genome and whole exome sequencing DTC. Although the majority of the popular media coverage and much of the academic debates have focussed on companies selling genome-wide-testing services (from companies such as 23andMe, and in the past deCODE and Navigenics), there are also many DTC genetic testing companies that do not sell this type of testing. Also contributing to the variation in the DTC genetic testing market is the great deal of variation regarding the purpose of the tests on offer; for example, different tests can provide information regarding ancestry, carrier status, disease risk (presymptomatic, prenatal, susceptibility), nutrigenomics or pharmacogenomics. The advent of this commercial offer of genetic testing, raises some new and not so new ethical, legal and social issues (ELSI). In this presentation, I will describe the phenomena of DTC genetic testing, present what advocates and critiques have to say about this offer, and discuss the ELSI.

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