ArticleAmerican journal of medical genetics. Part A2015
Experiences with obtaining informed consent for genomic sequencing.
Article in American journal of medical genetics. Part A, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 3 of them syntheses that pooled it.
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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
58 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Parents' understanding of genome and exome sequencing for pediatric health conditions: a systematic review.European journal of human genetics : EJHG · 2022Pooled it
- Return of individual research results from genomic research: A systematic review of stakeholder perspectives.PloS one · 2021Pooled it
- Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Pooled it
- The goldilocks conundrum: Disclosing discrimination risks in informed consent.Journal of genetic counseling · 2022Trial
- ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Trial
- The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Trial
- A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study.European journal of human genetics : EJHG · 2018Trial
- Genomic Data Governance Challenges Between Research and Clinical Care: A Scoping Review.Health expectations : an international journal of public participation in health care and health policy · 2026Article
- Predicting Physical Appearance from Low Template: State of the Art and Future Perspectives.Genes · 2026Review
- What does a consent conversation for whole genome sequencing look like in the NHS Genomic Medicine Service? An observational study.European journal of human genetics : EJHG · 2025Observational
- Analysis of informed consent forms of patients undergoing cancer genetic testing in the era of next-generation sequencing.Hereditary cancer in clinical practice · 2025Article
- Professionals' views on providing personalized recurrence risks for de novo mutations: Implications for genetic counseling.Journal of genetic counseling · 2025Article
- Using a chat-based informed consent tool in large-scale genomic research.Journal of the American Medical Informatics Association : JAMIA · 2024Article
- 'It's a nightmare': informed consent in paediatric genome-wide sequencing. A qualitative expert interview study from Germany and Switzerland.European journal of human genetics : EJHG · 2023Article
- Receiving Genomic Sequencing Results through the Victorian Undiagnosed Disease Program: Exploring Parental Experiences.Journal of personalized medicine · 2022Article
- Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Preference for secondary findings in prenatal and pediatric exome sequencing.Prenatal diagnosis · 2022Article
- Informed consent practices for exome sequencing: An interview study with clinical geneticists in the Netherlands.Molecular genetics & genomic medicine · 2022Article
- An evaluation of the process of informed consent: views from research participants and staff.Trials · 2021Article
- GeneLiFT: A novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing.Journal of genetic counseling · 2021Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
Despite the increased utilization of genome and exome sequencing, little is known about the actual content and process of informed consent for sequencing. We addressed this by interviewing 29 genetic counselors and research coordinators experienced in obtaining informed consent for sequencing in research and clinical settings. Interviews focused on the process and content of informed consent; patients/participants' common questions, concerns and misperceptions; and challenges to obtaining informed consent. Content analysis of transcribed interviews revealed that the main challenges to obtaining consent related to the broad scope and uncertainty of results, and patient/participants' unrealistic expectations about the likely number and utility of results. Interviewees modified their approach to sessions according to contextual issues surrounding the indication for testing, type of patient, and timing of testing. With experience, most interviewees structured sessions to place less emphasis on standard elements in the consent form and technological aspects of sequencing. They instead focused on addressing misperceptions and helping patients/participants develop realistic expectations about the types and implications of possible results, including secondary findings. These findings suggest that informed consent sessions should focus on key issues that may be misunderstood by patients/participants. Future research should address the extent to which various stakeholders agree on key elements of informed consent.
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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.