ArticleAmerican journal of medical genetics. Part A2011
Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research.
Article in American journal of medical genetics. Part A, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers.
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
79 citing papers in PubMed.
- Research participants' experiences with return of genetic research results and preferences for web-based alternatives.Molecular genetics & genomic medicine · 2019Trial
- Personalized genomic disease risk of volunteers.Proceedings of the National Academy of Sciences of the United States of America · 2013Trial
- Article
- Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of Precision Medicine.Children (Basel, Switzerland) · 2025Review
- Mitochondrial DNA Mutations and Epigenetic Regulation in Type 2 Diabetes Mellitus Development.British journal of biomedical science · 2025Review
- Genes to therapy: a comprehensive literature review of whole-exome sequencing in neurology and neurosurgery.European journal of medical research · 2024Review
- Article
- From code to care: Clinician and researcher perspectives on an optimal therapeutic web portal for acute myeloid leukemia.PloS one · 2024Article
- Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal.Annual review of genomics and human genetics · 2023Review
- "If relatives inherited the gene, they should inherit the data." Bringing the family into the room where bioethics happens.New genetics and society · 2022Article
- A Blockchain-Based Dynamic Consent Architecture to Support Clinical Genomic Data Sharing (ConsentChain): Proof-of-Concept Study.JMIR medical informatics · 2021Article
- The use of personal health information outside the circle of care: consent preferences of patients from an academic health care institution.BMC medical ethics · 2021Article
- Germline Genome Editing Research: What Are Gamete Donors (Not) Informed About in Consent Forms?The CRISPR journal · 2020Article
- Reporting Genetic Findings to Individual Research Participants: Guidelines From the Swiss Personalized Health Network.Frontiers in genetics · 2020Article
- Revised Common Rule Changes to the Consent Process and Consent Form.Ochsner journal · 2020Review
- Physicians' perspectives on receiving unsolicited genomic results.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Privacy and ethical challenges in next-generation sequencing.Expert review of precision medicine and drug development · 2019Article
- Ethics in genetic counselling.Journal of community genetics · 2019Review
- "Not pathogenic until proven otherwise": perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Ethical Implications of Clinical Genomic Information, Records Research, and Informed Consent.Ochsner journal · 2018Article
19 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors.
Funding
Abstract
Exome sequencing (ES) and whole genome sequencing (WGS) putatively identify all adverse functional alleles of protein-coding genes. Accordingly, while ES/WGS are transformative new tools for gene discovery in human and medical genetics research, they also generate new manifestations of ethical issues related to the consent process, data sharing, and return of results. These manifestations have yet to be comprehensively framed, due in part to the rapidity with which new technologies for ES/WGS are being applied and because of a lack of empirical data to provide guidance. Accordingly, researchers, funding agencies, and policy makers have largely dealt with these issues intuitively. We explain how use of ES/WGS challenges: (i) models under which informed consent is typically obtained; (ii) how harms associated with data sharing are considered; and (iii) the nature of obligations surrounding unanticipated findings. We provide broad guidance about interim ways to contend with these issues and make broad recommendations for areas for novel resource and policy development.
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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.