ArticleJournal of medical genetics2019
Should pretest genetic counselling be required for patients pursuing genomic sequencing? Results from a survey of participants in a large genomic implementation study.
Article in Journal of medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Determinants of willingness to share personal genomic data: a systematic review focused on health literacy.BMC medical ethics · 2026Pooled it
- Framing Effects on Decision-Making for Diagnostic Genetic Testing: Results from a Randomized Trial.Genes · 2021Trial
- Impact of a digital platform on genetic counselling encounters in the screening context.European journal of human genetics : EJHG · 2026Article
- Genetic Counseling Utilization and Experience Among Caregivers of Children With ASD in the United States.Journal of autism and developmental disorders · 2025Article
- Perceived understanding and psychosocial outcomes: employees' responses to learning results of workplace genetic testing.Personalized medicine · 2025Article
- Patients' Concerns About Receiving Preemptive Pharmacogenomic Testing: Results from a Large, Longitudinal Survey of RIGHT Study Participants.Journal of personalized medicine · 2025Article
- Communicating Personal Melanoma Polygenic Risk Information: Participants' Experiences of Genetic Counseling in a Community-Based Study.Journal of personalized medicine · 2022Article
- Patient and Provider Perspectives on Enrollment in Precision Oncology Research: Qualitative Ethical Analysis.JMIR cancer · 2022Article
- Genetic counseling for patients with positive genomic screening results: Considerations for when the genetic test comes first.Journal of genetic counseling · 2021Article
- Increasing access to individualized medicine: a matched-cohort study examining Latino participant experiences of genomic screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- "Who Doesn't Like Receiving Good News?" Perspectives of Individuals Who Received Genomic Screening Results by Mail.Journal of personalized medicine · 2021Article
- Returning negative results from large-scale genomic screening: Experiences from the eMERGE III network.American journal of medical genetics. Part A · 2021Article
- "They're Not Going to Do Nothing for Me": Research Participants' Attitudes towards Elective Genetic Counseling.Journal of personalized medicine · 2020Article
- Integrating stakeholder feedback in translational genomics research: an ethnographic analysis of a study protocol's evolution.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Patient comprehension of preemptive pharmacogenomic results.PharmacogenomicsArticle
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
purposeWe assessed the decision-making of individuals pursuing genomic sequencing without a requirement for pretest genetic counselling. We sought to describe the extent to which individuals who decline genetic counselling reported decisional conflict or struggled to make a decision to pursue genomic testing.
methodsWe administered a 100-item survey to 3037 individuals who consented to the Return of Actionable Variants Empirical study, a genomic medicine implementation study supported by the National Institutes of Health (USA) eMERGE consortium. The primary outcomes of interest were self-reported decisional conflict about the decision to participate in the study and time required to reach a decision.
resultsWe received 2895 completed surveys (response rate=95.3%), and of these respondents 97.8% completed the decisional conflict scale in its entirety. A majority of individuals (63%) had minimal or no decisional conflict about the pursuit of genomic sequencing and were able to reach a decision quickly (78%). Multivariable logistic regression analyses identified several characteristics associated with decisional conflict, including lower education, lower health literacy, lower self-efficacy in coping, lack of prior experience with genetic testing, not discussing study participation with a family member or friend, and being male.
conclusionAs genomic sequencing is used more widely, genetic counselling resources may not be sufficient to meet demand. Our results challenge the notion that all individuals need genetic counselling in order to make an informed decision about genomic sequencing.
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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.