ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2014
Characterizing genetic variants for clinical action.
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 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
33 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genetically guided precision medicine clinical decision support tools: a systematic review.Journal of the American Medical Informatics Association : JAMIA · 2024Pooled it
- A systematic literature review of individuals' perspectives on privacy and genetic information in the United States.PloS one · 2018Pooled it
- [General anatomic and histopathological diagnostic aspects of hereditary tumor syndromes : The role of pathology].Pathologie (Heidelberg, Germany) · 2026Review
- Advancing the science of genomic learning healthcare systems.Learning health systems · 2025Article
- Distributional Cost-Effectiveness Analysis in Genomic Medicine: Considerations for Addressing Health Equity.Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research · 2025Article
- Actionability of Genetic Variants in Diabetes: Core Aspects and Applied Examples.Diabetes spectrum : a publication of the American Diabetes Association · 2025Article
- Editorial: Case reports in cardiovascular genetics and systems medicine: 2022.Frontiers in cardiovascular medicine · 2023Article
- Central resources of variant discovery and annotation and its role in precision medicine.Asian biomedicine : research, reviews and news · 2022Review
- The Role of Pharmacogenomics in Opioid Prescribing.Current treatment options in oncology · 2022Review
- PJAMIA open · 2021Article
- Building evidence and measuring clinical outcomes for genomic medicine.Lancet (London, England) · 2019Review
- Opportunities, resources, and techniques for implementing genomics in clinical care.Lancet (London, England) · 2019Review
- Stakeholders' views on the value of outcomes from clinical genetic and genomic interventions.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Interpretations of the Term "Actionable" when Discussing Genetic Test Results: What you Mean Is Not What I Heard.Journal of genetic counseling · 2019Article
- Frequency and phenotype consequence of APOC3 rare variants in patients with very low triglyceride levels.BMC medical genomics · 2018Article
- The value of genetic testing: beyond clinical utility.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Estimating Preferences for Complex Health Technologies: Lessons Learned and Implications for Personalized Medicine.Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research · 2017Article
- What are people willing to pay for whole-genome sequencing information, and who decides what they receive?Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing.Sociology of health & illness · 2016Article
- Implementing genomics and pharmacogenomics in the clinic: The National Human Genome Research Institute's genomic medicine portfolio.Atherosclerosis · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
35 authors.
Funding
Abstract
Genome-wide association studies, DNA sequencing studies, and other genomic studies are finding an increasing number of genetic variants associated with clinical phenotypes that may be useful in developing diagnostic, preventive, and treatment strategies for individual patients. However, few variants have been integrated into routine clinical practice. The reasons for this are several, but two of the most significant are limited evidence about the clinical implications of the variants and a lack of a comprehensive knowledge base that captures genetic variants, their phenotypic associations, and other pertinent phenotypic information that is openly accessible to clinical groups attempting to interpret sequencing data. As the field of medicine begins to incorporate genome-scale analysis into clinical care, approaches need to be developed for collecting and characterizing data on the clinical implications of variants, developing consensus on their actionability, and making this information available for clinical use. The National Human Genome Research Institute (NHGRI) and the Wellcome Trust thus convened a workshop to consider the processes and resources needed to: (1) identify clinically valid genetic variants; (2) decide whether they are actionable and what the action should be; and (3) provide this information for clinical use. This commentary outlines the key discussion points and recommendations from the workshop.
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.