ArticleGenetics in medicine : official journal of the American College of Medical Genetics2012
Taxonomizing, sizing, and overcoming the incidentalome.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 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
75 citing papers in PubMed, 1 synthesis or guideline pooled it.
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Guideline
- Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Trial
- The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.Annals of internal medicine · 2017Trial
- 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
- Reasons and Resolutions for Inconsistent Variant Interpretation.Human mutation · 2023Review
- To disclose, or not to disclose? Perspectives of clinical genomics professionals toward returning incidental findings from genomic research.BMC medical ethics · 2021Article
- From Genetics to Genomics: Facing the Liability Implications in Clinical Care.The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2020Article
- The Streetlight Effect: Regulating Genomics Where the Light Is.The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2020Article
- How Can Law and Policy Advance Quality in Genomic Analysis and Interpretation for Clinical Care?The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2020Article
- Development of a Genomic Data Flow Framework: Results of a Survey Administered to NIH-NHGRI IGNITE and eMERGE Consortia Participants.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2019Article
- THE GENETIC INFORMATION NONDISCRIMINATION ACT AT AGE 10: GINA'S CONTROVERSIAL ASSERTION THAT DATA TRANSPARENCY PROTECTS PRIVACY AND CIVIL RIGHTS.William and Mary law review · 2019Article
- Incidentalome in Neurogenetics: Pathogenic Variant ofFrontiers in genetics · 2018Article
- Comparative analysis of primaryOncotarget · 2017Article
- A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Informed consent for next-generation nucleotide sequencing studies: Aiding communication between participants and investigators.Journal of clinical and translational science · 2017Article
- Effect of Public Deliberation on Attitudes toward Return of Secondary Results in Genomic Sequencing.Journal of genetic counseling · 2017Article
- The current state of clinical interpretation of sequence variants.Current opinion in genetics & development · 2017Review
- Reconciling evidence-based medicine and precision medicine in the era of big data: challenges and opportunities.Genome medicine · 2016Review
- Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.Science translational medicine · 2016Article
- User-centered design of multi-gene sequencing panel reports for clinicians.Journal of biomedical informatics · 2016Article
15 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
purposeWith the advent of whole-genome sequencing made clinically available, the number of incidental findings is likely to rise. The false-positive incidental findings are of particular clinical concern. We provide estimates on the size of these false-positive findings and classify them into four broad categories.
methodsWhole-genome sequences (WGS) of nine individuals were scanned with several comprehensive public annotation databases and average estimates for the number of findings. These estimates were then evaluated in the perspective of various sources of false-positive annotation errors.
resultsAt present there are four main sources of false-positive incidental findings: erroneous annotations, sequencing error, incorrect penetrance estimates, and multiple hypothesis testing. Of these, the first two are likely to be addressed in the near term. Conservatively, current methods deliver hundreds of false-positive incidental findings per individual.
conclusionThe burden of false-positives in whole-genome sequence interpretation threatens current capabilities to deliver clinical-grade whole-genome clinical interpretation. A new generation of population studies and retooling of the clinical decision-support approach will be required to overcome this threat.
Indexed as
Identifiers
What OpenQuestion holds
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.