Evidence map›Paper›PMID 35171498›Full record

ArticleJournal of community genetics2022

Considerations for developing regulations for direct-to-consumer genetic testing: a scoping review using the 3-I framework.

Alexandra Cernat, Naazish S Bashir, Wendy J Ungar

Open access · greenAbstract readScoping Review
In one paragraph

Article in Journal of community genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
2.4field-weighted citation impact, top 11% of its field
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

9 citing papers in PubMed, 15 citations in OpenAlex.

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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

3 authors at 2 institutions in 1 country.

Alexandra CernatInstitute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.
Naazish S BashirChild Health Evaluative Sciences, Hospital for Sick Children Research Institute, 686 Bay St, Toronto, ON, M5G 0A4, Canada.
Wendy J UngarInstitute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada. wendy.ungar@sickkids.ca.ORCID http://orcid.org/0000-0002-0762-0101
University of Toronto · CAHospital for Sick Children · CA

Funding

Canada Excellence Research Chairs, Government of Canada Tier 1 Canada Research ChairCIHR Canada Graduate Scholarships Master's AwardHospital for Sick Children RestraComp MSc ScholarshipHospital for Sick Children RestraComp Post-doctoral fellowship
6 · The paper itself

Abstract

Direct-to-consumer (DTC) genetic testing exists largely outside of any regulatory schemes, and studies providing a comprehensive overview of the ethical, social, legal, and technological considerations for regulating these types of technologies are lacking. This paper uses the 3-I framework for policy analysis to analyze the ideas, interests, and institutions relevant to policy development for DTC genetic testing in North America and internationally. A scoping review was conducted. Citation databases were searched for papers addressing the ethical, social, legal, and technological implications of DTC genetic testing; stakeholder perspectives on and experiences with DTC genetic testing; or the effect of such testing on the healthcare system. Ninety-nine publications, organizational reports, governmental documents, or pieces of legislation were included. The ideas included are autonomy, informed decision making, privacy, and clinical validity and utility. The interests discussed are those of the public and healthcare providers. The institutions included are regulatory organizations such as the Food and Drug Administration in the United States, laws governing the implementation or delivery of genetic testing in general, and legislation created to protect against genetic discrimination. This analysis clarifies the ethical, social, legal, and technological issues of DTC genetic testing regulation. This information can be used by policy makers to develop or strengthen regulations for DTC genetic testing such as requiring an assessment of the clinical validity of tests before they become publicly available, controlling how tests are marketed, and stipulating requirements for healthcare provider involvement and informed consent.

Indexed as

Direct-to-consumer screening and testingGenetic testingHealth policyHealth services researchReview

Identifiers

PMID35171498
PMCPMC8941003
OpenAlexW4213301589

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.