ReviewClinical genetics2015
Living laboratory: whole-genome sequencing as a learning healthcare enterprise.
Review in Clinical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Return of individual research results from genomic research: A systematic review of stakeholder perspectives.PloS one · 2021Pooled it
- Citizens, Research Ethics Committee Members and Researchers' Attitude Toward Information and Consent for the Secondary Use of Health Data: Implications for Research Within Learning Health Systems.Journal of empirical research on human research ethics : JERHRE · 2021Article
- Towards a Responsible Transition to Learning Healthcare Systems in Precision Medicine: Ethical Points to Consider.Journal of personalized medicine · 2021Review
- Informed consent within a learning health system: A scoping review.Learning health systems · 2020Article
- Integrating Rules for Genomic Research, Clinical Care, Public Health Screening and DTC Testing: Creating Translational Law for Translational Genomics.The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2020Article
- Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Human Microbiome and Learning Healthcare Systems: Integrating Research and Precision Medicine for Inflammatory Bowel Disease.Omics : a journal of integrative biology · 2018Review
- Are physicians prepared for whole genome sequencing? a qualitative analysis.Clinical genetics · 2016Article
- Perspectives on genetic and genomic technologies in an academic medical center: the duke experience.Journal of personalized medicine · 2015Article
- Mapping the Ethics of Translational Genomics: Situating Return of Results and Navigating the Research-Clinical Divide.The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2015Article
- Distributing the future: The weak justifications for keeping human genomic databases secret and the challenges and opportunities in reverse engineering them.Applied & translational genomics · 2014Article
- Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?Genome medicine · 2014Article
- Old Challenges or New Issues? Genetic Health Professionals' Experiences Obtaining Informed Consent in Diagnostic Genomic Sequencing.AJOB empirical bioethicsArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
With the proliferation of affordable large-scale human genomic data come profound and vexing questions about management of such data and their clinical uncertainty. These issues challenge the view that genomic research on human beings can (or should) be fully segregated from clinical genomics, either conceptually or practically. Here, we argue that the sharp distinction between clinical care and research is especially problematic in the context of large-scale genomic sequencing of people with suspected genetic conditions. Core goals of both enterprises (e.g. understanding genotype-phenotype relationships; generating an evidence base for genomic medicine) are more likely to be realized at a population scale if both those ordering and those undergoing sequencing for diagnostic reasons are routinely and longitudinally studied. Rather than relying on expensive and lengthy randomized clinical trials and meta-analyses, we propose leveraging nascent clinical-research hybrid frameworks into a broader, more permanent instantiation of exploratory medical sequencing. Such an investment could enlighten stakeholders about the real-life challenges posed by whole-genome sequencing, such as establishing the clinical actionability of genetic variants, returning 'off-target' results to families, developing effective service delivery models and monitoring long-term outcomes.
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.