‘It’s Much More Grey than Black and White’: Clinical Geneticists’ Views on the Oversight of Consumer Genomics in Europe

Abstract

Aim: Direct-to-consumer (DTC) genetic tests (GT) have created controversy regarding their risks and benefits. In view of recent regulatory developments, this article aims to explore the attitudes of European clinical geneticists toward the oversight of DTC GT. Materials & methods: Fifteen semi-structured interviews were performed with clinical geneticists based in ten European countries. The transcripts were thematically analysized in an iterative process. Results & conclusion: Respondents strongly supported quality standards for DTC GT equal to those applied within the healthcare setting. Despite participants unanimously considering the involvement of healthcare professionals to be important, mandatory medical supervision was controversial. In this regard, promoting education and truth-in-advertising was considered as being key in maintaining a balance between protecting consumers and promoting their autonomy.

Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns

“…1 . There were two instances where two reports related to the same study (two newly identified records [ 22 , 23 ], and two identified by Goldsmith et al [ 7 ]. Therefore, this review identified a total of 25 studies that address the knowledge and views of HCPs on DTC-GT for further evaluation.…”

“…Of these, fourteen studies were conducted in North America, either in the USA, Canada, or both [ 21 , 24 – 36 ]. Two studies were conducted in Europe and involved HCPs from several European countries [ 2 , 22 , 23 ]. One study was conducted in New Zealand [ 37 ], and one in Thailand, the only one conducted in a low-to-middle income country [ 38 ].…”

“…breast, prostate cancer Hsieh [ 30 ] (USA and Canada) “This study seeks to explore the experiences, attitudes, and opinions of genetic counsellors in North America regarding DTC-GT and their willingness to see DTC-GT consumers in a clinical setting.” Secondly, to “report on the experience genetic counsellors have had interpreting DTC-GT results.” Quantitative: survey distributed via mailing lists (12.20%) 482 genetic counsellors (mailing lists associated with the National Society of Genetic Counsellors (NSGC) and the American Board of Genetic Counselling (ABGC) Ancestry, paternity, traits, carrier screening, pharmacogenomics, adult-onset conditions and cancer. Jonas et al [ 31 ] (USA) “To assess the degree to which direct-to-consumer genetic test results were being presented to physicians and identify genetics educational needs among physicians” Quantitative: electronic survey (15%) 1502 primary care and specialist physicians (Permanente Medical Group) Health risk genetic testing and pharmacogenomics Kalokairinou et al [ 22 ] (Europe, 10 Countries)) b “To explore the experiences and attitudes of European clinical geneticists towards DTC genetic testing and its regulation”, “focusing on the experience of the participants with patients having undergone DTC-GT and their attitudes towards these tests” Qualitative: semi-structured interviews (in person, via telephone or Skype) N/A based on study design 15 clinical geneticists from 10 different European countries (Belgium, the Czech Republic, Finland, France, Ireland, the Netherlands, Slovenia, Sweden, Turkey and the UK) Personal Genome Scans, carrier tests, nutrigenomics tests, pharmacogenomic tests, BRCA tests and whole exome sequencing Kalokairinou et al [ 23 ] (Europe (10 countries)) b (same study as above) “The attitudes of clinical geneticists towards the regulation of DTC genetic tests in Europe.” Qualitative: semi-structured interviews (in person, via telephone or Skype) (N/A based on study design) 15 clinical geneticists from 10 different European countries (Belgium, the Czech Republic, Finland, France, Ireland, the Netherlands, Slovenia, Sweden, Turkey and the UK) Personal Genome Scans, carrier tests, nutrigenomics tests, pharmacogenomic tests, BRCA tests and whole exome sequencing Kittikoon et al [ 38 ] (Thailand) “The primary objective of this study was to describe (a) awareness, (b) preparedness to provide counselling about the consumer-initiated genetic test, and (c) opinions on the usefulness of consumer-initiated genetic tests among physicians at an academic hospital in Bangkok, Thailand.” Quantitative: paper questionnaires (60.20%) 308 internal medicine physicians in an academic hospital in Bangkok, Thailand (223 residents, 14 fellows, and 71 faculty staff members) Non-specific DTC-GT …”

“…Sixteen studies used survey methods, of which eleven were online [ 2 , 24 , 26 , 29 – 36 ], three by mail [ 21 , 28 , 37 ], one on paper [ 38 ], and one used both mail and on paper [ 25 ]. Two studies involved focus groups [ 25 , 27 ], one with a pre- and post-focus group survey [ 25 ], and one used semi-structured interviews [ 22 , 23 ].…”

Human Genetics Society of Australasia Position Statement: Online DNA Testing

“…This makes it difficult to ensure that results are analyzed consistently by different testing laboratories, and this may raise questions about reliability of results. It is also difficult to determine what legislation or regulation will be applied to how DNA can, or has been, stored, shared and used; this may depend on the country in which the company and laboratory are based-as that could be in different locations (Kalokairinou et al, 2020;Savard, 2013). • Privacy: Data generated from online DNA testing may be shared or sold to other research groups or companies.…”