ReviewHuman mutation2013
Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics.
Review in Human mutation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Guidelines for cytogenetic investigations in tumours.European journal of human genetics : EJHG · 2016Guideline
- Towards responsible genome-wide screening: normative and stakeholder considerations.European journal of human genetics : EJHG · 2026Article
- Bioinformatics for precision oncology.Briefings in bioinformatics · 2019Review
- A Tale of Two Capacities: Including Children and Decisionally Vulnerable Adults in Biomedical Research.Frontiers in genetics · 2019Article
- Privacy and ethical challenges in next-generation sequencing.Expert review of precision medicine and drug development · 2019Article
- Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate.European journal of human genetics : EJHG · 2018Article
- The challenges of the expanded availability of genomic information: an agenda-setting paper.Journal of community genetics · 2018Article
- Towards precision nephrology: the opportunities and challenges of genomic medicine.Journal of nephrology · 2018Review
- Variation among Consent Forms for Clinical Whole Exome Sequencing.Journal of genetic counseling · 2018Article
- Pediatric Whole Exome Sequencing: an Assessment of Parents' Perceived and Actual Understanding.Journal of genetic counseling · 2017Article
- Discussing molecular testing in oncology care: Comparing patient and physician information preferences.Cancer · 2017Article
- The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents' Experiences.Journal of genetic counseling · 2016Article
- Responsible implementation of expanded carrier screening.European journal of human genetics : EJHG · 2016Article
- Compare and contrast: a cross-national study across UK, USA and Greek experts regarding return of incidental findings from clinical sequencing.European journal of human genetics : EJHG · 2016Article
- Consent to epistemic interventions: a contribution to the debate on the right (not) to know.Medicine, health care, and philosophy · 2016Article
- Screening for Familial Hypercholesterolemia in Children: What Can We Learn From Adult Screening Programs?Healthcare (Basel, Switzerland) · 2015Article
- Do Health Professionals Need Additional Competencies for Stratified Cancer Prevention Based on Genetic Risk Profiling?Journal of personalized medicine · 2015Review
- Patients' views on incidental findings from clinical exome sequencing.Applied & translational genomics · 2015Article
- Understanding patient and provider perceptions and expectations of genomic medicine.Journal of surgical oncology · 2015Review
- Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings.European journal of human genetics : EJHG · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
High-throughput nucleotide sequencing (often referred to as next-generation sequencing; NGS) is increasingly being chosen as a diagnostic tool for cases of expected but unresolved genetic origin. When exploring a higher number of genetic variants, there is a higher chance of detecting unsolicited findings. The consequential increased need for decisions on disclosure of these unsolicited findings poses a challenge for the informed consent procedure. This article discusses the ethical and practical dilemmas encountered when contemplating informed consent for NGS in diagnostics from a multidisciplinary point of view. By exploring recent similar experiences with unsolicited findings in other settings, an attempt is made to describe what can be learned so far for implementing NGS in standard genetic diagnostics. The article concludes with a set of points to consider in order to guide decision-making on the extent of return of results in relation to the mode of informed consent. We hereby aim to provide a sound basis for developing guidelines for optimizing the informed consent procedure.
Indexed as
Identifiers
What Socratic 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 Socratic graph.