ArticleEuropean journal of human genetics : EJHG2012
An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 3 syntheses or guidelines pooled it, 54 citations in OpenAlex.
- Sharing behavior and health care utilization following direct-to-consumer genetic testing: a systematic review.Open research Europe · 2025Pooled it
- Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals' knowledge and views, and ethical and legal concerns.European journal of human genetics : EJHG · 2022Pooled it
- Internet-Based Direct-to-Consumer Genetic Testing: A Systematic Review.Journal of medical Internet research · 2015Pooled it
- Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention.BMC medical genetics · 2014Trial
- How Has the Rise of Direct-To-Consumer Genetic Testing Impacted Genetic Counselling Practice? A Scoping Review.Clinical genetics · 2026Article
- Survey of Professionals of the European Public Health Association (EUPHA) towards Direct-to-Consumer Genetic Testing.European journal of public health · 2023Article
- Toward a More Just System of Care in Molecular Pathology.The Milbank quarterly · 2022Article
- Considerations for developing regulations for direct-to-consumer genetic testing: a scoping review using the 3-I framework.Journal of community genetics · 2022Article
- The expectations and realities of nutrigenomic testing in australia: A qualitative study.Health expectations : an international journal of public participation in health care and health policy · 2021Article
- Public reactions to direct-to-consumer genetic health tests: A comparison across the US, UK, Japan and Australia.European journal of human genetics : EJHG · 2020Article
- Atti Le giornate della ricerca scientificae delle esperienze professionali dei giovani: Società Italiana di Igiene, Medicina Preventiva e Sanità Pubblica (SItI) Roma 20-21 dicembre 2019.Journal of preventive medicine and hygiene · 2020Article
- "Bridge to the Literature"? Third-Party Genetic Interpretation Tools and the Views of Tool Developers.Journal of genetic counseling · 2018Article
- Australians' views on personal genomic testing: focus group findings from the Genioz study.European journal of human genetics : EJHG · 2018Article
- Regulation of Internet-based Genetic Testing: Challenges for Australia and Other Jurisdictions.Frontiers in public health · 2018Article
- Consumer use and response to online third-party raw DNA interpretation services.Molecular genetics & genomic medicine · 2018Article
- Retail genetics.Australian prescriber · 2017Article
- Neurogenethics: An emerging discipline at the intersection of ethics, neuroscience, and genomics.Applied & translational genomics · 2015Review
- Genetic counseling in direct-to-consumer exome sequencing: a case report.Journal of genetic counseling · 2014Article
- Article
- Primary care patients' views and decisions about, experience of and reactions to direct-to-consumer genetic testing: a longitudinal study.Journal of community genetics · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Direct-to-consumer genetic testing (DTC-GT) allows individuals to obtain genetic tests directly from companies without necessarily involving health professionals. This study explores genetic health professionals' opinions of health-related DTC-GT and the reported frequency of individuals presenting to clinical genetics services after undertaking testing. Genetic counsellors and clinical geneticists, members of the Human Genetics Society of Australasia, completed an online survey in mid 2011. The 130 genetic counsellors (estimated response fraction=43%) and 38 clinical geneticists (estimated response fraction=46%) had mixed opinions regarding DTC-GT, with only 7% confident in accurately interpreting and explaining DTC-GT results. Nineteen respondents (11%) reported one or more client(s) referred to them after undertaking DTC-GT. Descriptions of 25 clients were extracted from responses, and respondents reported that all clients were concerned for the health of either themselves or family members. Most clients presented to genetic clinics specifically as a result of their DTC-GT (96%) and were self or GP referred (92%). Respondents perceived that their clients typically undertook DTC-GT because they wanted to identify monogenic conditions, including carrier testing and/or know their susceptibility or predisposition for complex conditions (88%). The majority of clients needed help interpreting DTC-GT results (80%), however in general were not questioning the validity of their DTC-GT results (92%) nor seeking further genetic testing (84%). Currently, DTC-GT is not a major reason for referral to clinical genetics services in Australia and New Zealand and the majority of genetic health professionals lack confidence in being able to accurately interpret and explain DTC-GT results.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.