ArticleAJOB empirical bioethics
Old Challenges or New Issues? Genetic Health Professionals' Experiences Obtaining Informed Consent in Diagnostic Genomic Sequencing.
Article in AJOB empirical bioethics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- The relationship between uncertainty and trust in genomic medicine and research: A literature review and thematic analysis.European journal of human genetics : EJHG · 2026Review
- Collaborative coding in inductive content analysis: Why, when, and how to do it.Journal of genetic counseling · 2025Article
- 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
- Consent for genomic sequencing: a conversation, not just a form.European journal of human genetics : EJHG · 2025Article
- Genomic sequencing: the case for equity of care in the era of personalized medicine.Pediatric research · 2025Review
- Should the scope of NIPT be limited by a 'threshold of seriousness'?European journal of human genetics : EJHG · 2025Article
- Attitudes Towards Non-directiveness Among Medical Geneticists in Germany and Switzerland.Journal of bioethical inquiry · 2024Article
- Evaluation of a two-step model of opportunistic genomic screening.European journal of human genetics : EJHG · 2024Article
- Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions.European journal of human genetics : EJHG · 2024Article
- 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
- Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists.European journal of human genetics : EJHG · 2023Article
- No need for options for choice for unsolicited findings in informed consent for clinical genetic testing.European journal of human genetics : EJHG · 2023Article
- Structured Ethical Review for Wastewater-Based Testing in Support of Public Health.Environmental science & technology · 2023Article
- Structured Ethical Review for Wastewater-Based Testing.medRxiv : the preprint server for health sciences · 2023Article
- An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.European journal of human genetics : EJHG · 2023Article
- Genomic tools for health: Secondary findings as findings to be shared.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- The Challenge of Genetic Variants of Uncertain Clinical Significance : A Narrative Review.Annals of internal medicine · 2022Review
- Moving from 'fully' to 'appropriately' informed consent in genomics: The PROMICE framework.Bioethics · 2022Article
- Should we respect parents' views about which results to return from genomic sequencing?Human genetics · 2022Article
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Authors and funding
4 authors.
Funding
Abstract
backgroundWhile integrating genomic sequencing into clinical care carries clear medical benefits, it also raises difficult ethical questions. Compared to traditional sequencing technologies, genomic sequencing and analysis is more likely to identify unsolicited findings (UF) and variants that cannot be classified as benign or disease-causing (variants of uncertain significance; VUS). UF and VUS pose new challenges for genetic health professionals (GHPs) who are obtaining informed consent for genomic sequencing from patients.
methodsWe conducted semi-structured interviews with 31 GHPs across Europe, Australia and Canada to identify some of these challenges.
resultsOur results show that GHPs find it difficult to prepare patients to receive results because a vast amount of information is required to fully inform patients about VUS and UF. GHPs also struggle to engage patients - many of whom may be focused on ending their 'diagnostic odyssey' - in the informed consent process in a meaningful way. Thus, some questioned how 'informed' patients actually are when they agree to undergo clinical genomic sequencing.
conclusionsThese findings suggest a tension remains between sufficient information provision at the risk of overwhelming the patient and imparting less information at the risk of uninformed decision-making. We suggest that a shift away from 'fully informed consent' toward an approach aimed at realizing, as far as possible, the underlying goals that informed consent is meant to promote.
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