Attitudes and experiences of European clinical geneticists towards direct-to-consumer genetic testing: a qualitative interview study

Abstract

Direct-to-consumer (DTC) genetic tests (GT) enable consumers to access a wide range of GT, without involving a healthcare professional, promoting an increasing disassociation of genetics from the clinical context. This study explores, through semi-structured interviews, the experiences and attitudes of European clinical geneticists towards DTCGT. Our results indicate that the participants have limited experience of consultations with patients regarding such tests.In the majority of cases, the participants stated that consumers purchased tests out of curiosity and sought a general interpretation of test results by a healthcare professional. Most respondents were skeptical of the quality of these tests, especially regarding their clinical utility. The participants supported the importance of medical supervision and genetic counseling in this context. Finally, most respondents considered it their duty to accept consultations concerning DTCGT results. However, due to concerns over limited time and potential downstream costs, some participants supported that a prioritization system based on guidelines would be necessary.

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

“…Following exclusion of ineligible records, 25 full texts were reviewed, of which 17 papers met the eligibility criteria (details of 8 excluded full texts are provided in Appendix A ). Two additional papers from other sources were found to fulfil the criteria for inclusion [ 21 , 22 ]. Therefore, 19 new papers were identified in this review.…”

“…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 ].…”