Evidence map›Paper›PMID 36220915›Full record

SynthesisEuropean journal of human genetics : EJHG2022

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

Michelle Fernandes Martins, Logan T Murry, Liesl Telford, Frank Moriarty

Abstract readSystematic Review
In one paragraph

Synthesis in European journal of human genetics : EJHG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

41 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Brain-Hype and For-Profit Medical Devices.Journal of bioethical inquiry · 2026
    Article
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  4. Review
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  12. Review
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  20. Global multi-specialty clinician perspectives on the implementation of Alzheimer's disease blood biomarkers.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Michelle Fernandes MartinsDepartment of General Practice, RCSI University of Medicine and Health Sciences, Dublin 2, Ireland.ORCID http://orcid.org/0000-0001-7606-9731
Logan T MurrySchool of Pharmacy and Biomolecular Sciences, RCSI University of Medicine and Health Sciences, Dublin 2, Ireland.
Liesl TelfordHeronswood Medical Centre, Cork Road, Cork, P43 VF30, Ireland.
Frank MoriartySchool of Pharmacy and Biomolecular Sciences, RCSI University of Medicine and Health Sciences, Dublin 2, Ireland. frankmoriarty@rcsi.com.ORCID http://orcid.org/0000-0001-9838-3625

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Direct-to-consumer genetic testing (DTC-GT) is becoming increasingly widespread. The aim of this research was to systematically review the literature published on healthcare professionals' knowledge and views about DTC-GT, as an update to a 2012 systematic review. The secondary aim was to assess the knowledge and views of healthcare professionals on the ethical and legal issues pertaining to DTC-GT. A systematic search was performed to identify all relevant studies that have been conducted since 2012. Studies fulfilled the inclusion criteria if they were primary research papers conducted on healthcare professionals about their knowledge and views on health-related DTC-GT. PubMed, Embase, CINAHL, PsycINFO and Medline databases were searched from 2012 to May 2021. Title and abstract were screened, and full texts were reviewed by two study authors independently. New papers included were appraised and data were extracted on study characteristics, knowledge and views on DTC-GT, and ethical and legal issues. A narrative synthesis was conducted. Nineteen new papers were included, along with eight papers from the previous review. There was considerable variation in study participants with differing views, awareness levels, and levels of knowledge about DTC-GT. Genetic counsellors and clinical geneticists generally had more concerns, experience, and knowledge regarding DTC-GT. Ten ethical concerns and four legal concerns were identified. Healthcare professionals' knowledge and experience of DTC-GT, including awareness of DTC-GT ethical and legal concerns, have only minimally improved since the previous review. This emphasises the need for further medical learning opportunities to improve the gaps in knowledge amongst healthcare professionals about DTC-GT.

Indexed as

Direct-To-Consumer Screening and TestingGenetic TestingDelivery of Health CareHealth PersonnelHumansMorals

Identifiers

PMID36220915
PMCPMC9553629

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.