ArticleJournal of genetic counseling2016
"Not Tied Up Neatly with a Bow": Professionals' Challenging Cases in Informed Consent for Genomic Sequencing.
Article in Journal of genetic counseling, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 2 of them syntheses that pooled 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.
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
34 citing papers in PubMed, 2 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
- 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
- Impact of patient education videos on genetic counseling outcomes after exome sequencing.Patient education and counseling · 2020Trial
- Genomic newborn screening: data retention for research and clinical reuse.European journal of human genetics : EJHG · 2026Article
- Genomic sequencing in newborn screening: balancing consent with the right of the asymptomatic at-risk child to be found.European journal of human genetics : EJHG · 2025Article
- Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project.European journal of human genetics : EJHG · 2023Article
- '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
- Informed Decision-Making and Capabilities in Population-based Cancer Screening.Public health ethics · 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
- Informed consent practices for exome sequencing: An interview study with clinical geneticists in the Netherlands.Molecular genetics & genomic medicine · 2022Article
- Stakeholder Perspectives on Navigating Evidentiary and Decision Uncertainty in Precision Oncology.Journal of personalized medicine · 2022Article
- Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol.NIHR open research · 2021Article
- Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Uncovering social structures and informational prejudices to reduce inequity in delivery and uptake of new molecular technologies.Journal of medical ethics · 2020Article
- Shortened consent forms for genome-wide sequencing: Parent and provider perspectives.Molecular genetics & genomic medicine · 2020Article
- Article
- Ethical values supporting the disclosure of incidental and secondary findings in clinical genomic testing: a qualitative study.BMC medical ethics · 2020Article
- Genetic Privacy and Data Protection: A Review of Chinese Direct-to-Consumer Genetic Test Services.Frontiers in genetics · 2020Article
- Challenges to informed consent for exome sequencing: A best-worst scaling experiment.Journal of genetic counseling · 2019Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
As the use of genomic technology has expanded in research and clinical settings, issues surrounding informed consent for genome and exome sequencing have surfaced. Despite the importance of informed consent, little is known about the specific challenges that professionals encounter when consenting patients or research participants for genomic sequencing. We interviewed 29 genetic counselors and research coordinators with considerable experience obtaining informed consent for genomic sequencing to understand their experiences and perspectives. As part of this interview, 24 interviewees discussed an informed consent case they found particularly memorable or challenging. We analyzed these case examples to determine the primary issue or challenge represented by each case. Challenges fell into two domains: participant understanding, and facilitating decisions about testing or research participation. Challenges related to participant understanding included varying levels of general and genomic literacy, difficulty managing participant expectations, and contextual factors that impeded participant understanding. Challenges related to facilitating decision-making included complicated family dynamics such as disagreement or coercion, situations in which it was unclear whether sequencing research would be a good use of participant time or resources, and situations in which the professional experienced disagreement or discomfort with participant decisions. The issues highlighted in these case examples are instructive in preparing genetics professionals to obtain informed consent for 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.