ArticleBMC medical genomics2016
Known unknowns: building an ethics of uncertainty into genomic medicine.
Article in BMC medical genomics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis 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
48 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- The relationship between uncertainty and trust in genomic medicine and research: A literature review and thematic analysis.European journal of human genetics : EJHG · 2026Review
- Germline genomic testing to assess the suitability of stem cell donors in the treatment of haematological malignancy: clinical ethics commentary.Journal of medical ethics · 2026Article
- Clinician Communication About Uncertainty During Parkinson Disease Diagnostic Consultations.Neurology. Clinical practice · 2026Article
- Sorting out and navigating uncertainty in precision medicine.History and philosophy of the life sciences · 2026Article
- Embedding ethics into Genomics England's Generation Study.BMJ open · 2026Review
- Managing the Uncertainty of "Precision" While Navigating Goals of Care: A Framework for Collaborative Interpretation of Complex Genomic Testing Results in Critically-Ill Neonates.Children (Basel, Switzerland) · 2025Article
- Clinical metagenomics: ethical issues.Journal of medical microbiology · 2025Article
- Predictive genetic testing for Huntington's disease: Exploring participant experiences of uncertainty and ambivalence between clinic appointments.Journal of genetic counseling · 2025Article
- Written communication of whole genome sequencing results in the NHS Genomic Medicine Service: a multi-centre service evaluation.European journal of human genetics : EJHG · 2024Article
- Hope, but never expect? Comparing parents' pre- and post-disclosure attitudes toward return of results from diagnostic exome sequencing for their child.Molecular genetics & genomic medicine · 2024Article
- Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study.Orphanet journal of rare diseases · 2024Article
- Understanding communication between patients and healthcare professionals regarding comprehensive biomarker testing in precision oncology: A scoping review.Cancer medicine · 2024Article
- Ethical considerations for nurses working in rare cancer care: Focus on sarcoma.Canadian oncology nursing journal = Revue canadienne de nursing oncologique · 2024Article
- Addressing ethical issues related to prenatal diagnostic procedures.Maternal health, neonatology and perinatology · 2023Article
- Article
- Patient decision support resources inform decisions about cancer susceptibility genetic testing and risk management: a systematic review of patient impact and experience.Frontiers in health services · 2023Review
- Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients.Journal of genetic counseling · 2022Article
- Cancer patients' understandings of genetic variants of uncertain significance in clinical care.Journal of community genetics · 2022Article
- Legal Implications of Stroke Biobanking and Genomics Research in Sub-Saharan Africa.Journal of law and medicine · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenomic testing has reached the point where, technically at least, it can be cheaper to undertake panel-, exome- or whole genome testing than it is to sequence a single gene. An attribute of these approaches is that information gleaned will often have uncertain significance. In addition to the challenges this presents for pre-test counseling and informed consent, a further consideration emerges over how - ethically - we should conceive of and respond to this uncertainty. To date, the ethical aspects of uncertainty in genomics have remained under-explored. DISCUSSION: In this paper, we draft a conceptual and ethical response to the question of how to conceive of and respond to uncertainty in genomic medicine. After introducing the problem, we articulate a concept of 'genomic uncertainty'. Drawing on this, together with exemplar clinical cases and related empirical literature, we then critique the presumption that uncertainty is always problematic and something to be avoided, or eradicated. We conclude by outlining an 'ethics of genomic uncertainty'; describing how we might handle uncertainty in genomic medicine. This involves fostering resilience, welfare, autonomy and solidarity.
conclusionsUncertainty will be an inherent aspect of clinical practice in genomics for some time to come. Genomic testing should not be offered with the explicit aim to reduce uncertainty. Rather, uncertainty should be appraised, adapted to and communicated about as part of the process of offering and providing genomic information.
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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.