ReviewEuropean journal of human genetics : EJHG2017
Third party interpretation of raw genetic data: an ethical exploration.
Review in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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
27 citing papers in PubMed.
- Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective.Pediatric nephrology (Berlin, Germany) · 2025Review
- Breast cancer screening for transgender individuals with breast cancer susceptibility genes.Translational breast cancer research : a journal focusing on translational research in breast cancer · 2025Review
- Policy Guidance for Direct-to-Consumer Genetic Testing Services: Framework Development Study.Journal of medical Internet research · 2024Review
- An Environmental Scan of Consumer-Initiated Germline Genetic Testing for Health Risks.Mayo Clinic proceedings · 2023Review
- A game theoretic approach to balance privacy risks and familial benefits.Scientific reports · 2023Article
- Returning raw genomic data: rights of research participants and obligations of health care professionals.The Medical journal of Australia · 2022Article
- The Role of Genetic Testing for Parkinson's Disease.Current neurology and neuroscience reports · 2021Review
- Personal Health Information Inference Using Machine Learning on RNA Expression Data from Patients With Cancer: Algorithm Validation Study.Journal of medical Internet research · 2020Article
- Sport and exercise genomics: the FIMS 2019 consensus statement update.British journal of sports medicine · 2020Article
- Health and kinship matter: Learning about direct-to-consumer genetic testing user experiences via online discussions.PloS one · 2020Article
- Genetic Privacy and Data Protection: A Review of Chinese Direct-to-Consumer Genetic Test Services.Frontiers in genetics · 2020Article
- Impute.me: An Open-Source, Non-profit Tool for Using Data From Direct-to-Consumer Genetic Testing to Calculate and Interpret Polygenic Risk Scores.Frontiers in genetics · 2020Article
- Who's on third? Regulation of third-party genetic interpretation services.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Review
- Targeting the delivery of dietary plant bioactives to those who would benefit most: from science to practical applications.European journal of nutrition · 2019Review
- Direct-to-consumer genetic testing.BMJ (Clinical research ed.) · 2019Article
- First Responder to Genomic Information: A Guide for Primary Care Providers.Molecular diagnosis & therapy · 2019Review
- Data Work: Meaning-Making in the Era of Data-Rich Medicine.Journal of medical Internet research · 2019Article
- Third-Party Genetic Interpretation Tools: A Mixed-Methods Study of Consumer Motivation and Behavior.American journal of human genetics · 2019Article
- Mind the gap: resources required to receive, process and interpret research-returned whole genome data.Human genetics · 2019Review
- Potential use of clinical polygenic risk scores in psychiatry - ethical implications and communicating high polygenic risk.Philosophy, ethics, and humanities in medicine : PEHM · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In the wake of recent regulations targeting direct-to-consumer genetic testing (DTC-GT), an increasing number of websites have emerged that offer consumers alternative means to derive health information from their DTC-GT raw data. While the ethical concerns associated with DTC-GT have been extensively discussed in the literature, the implications of third party interpretation (TPI) websites have remained largely unexplored. Here we sought to describe these services and elucidate their ethical implications in the context of the current DTC-GT debate. We reviewed five popular TPI websites that use SNP-based genomic data to report health-related information: Promethease, Interpretome, LiveWello, Codegen.eu, and Enlis Personal. We found that many of the ethical concerns previously described in DTC-GT also applied to TPI websites, including inadequate informed consent, questionable clinical validity and utility, and lack of medical supervision. However, some concerns about data usage and privacy reported in DTC-GT were less prominent in the five TPI websites we studied: none of them sold or shared user data, and 3/5 sites did not retain data in the long term. In addition, while exaggerated claims and inaccurate advertising have been frequently problematic in DTC-GT, advertising was minimal in the TPI sites we assessed, and 4/5 made no claims of health benefits. Overall, TPI adds a new dimension to the ethical debate surrounding DTC-GT, and awareness of these services will become increasingly important as personal genomics continues to expand. This study constitutes the first detailed ethical analysis of these services, and presents a starting point for further research and ethical reflection.
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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.