ArticleJournal of genetic counseling2014
Lynch syndrome patients' views of and preferences for return of results following whole exome sequencing.
Article in Journal of genetic counseling, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 2 of them syntheses that pooled it.
What it found
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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
30 citing papers in PubMed, 2 syntheses or guidelines pooled it, 60 citations in OpenAlex.
- Patient experience of uncertainty in cancer genomics: a systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Pooled it
- Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Pooled it
- Preferences for return of germline genome sequencing results for cancer patients and their genetic relatives in a research setting.European journal of human genetics : EJHG · 2022Article
- "Being proactive, not reactive": exploring perceptions of genetic testing among White, Latinx, and Pacific Islander Populations.Journal of community genetics · 2021Article
- A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings.Scientific reports · 2021Article
- Whether, when, how, and how much? General public's and cancer patients' views about the disclosure of genomic secondary findings.BMC medical genomics · 2021Article
- Impact of numeracy preferences on information needs for genome sequencing results.Patient education and counseling · 2021Article
- Genomic Testing for Relapsed and Refractory Lymphoid Cancers: Understanding Patient Values.The patient · 2021Article
- Article
- Cancer Patient Experience of Uncertainty While Waiting for Genome Sequencing Results.Frontiers in psychology · 2021Article
- Cancer communication research in the era of genomics and precision medicine: a scoping review.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium.Personalized medicine · 2019Article
- Using the diffusion of innovations model to guide participant engagement in the genomics era.Journal of genetic counseling · 2019Article
- Privacy and ethical challenges in next-generation sequencing.Expert review of precision medicine and drug development · 2019Article
- Assessing patient readiness for personalized genomic medicine.Journal of community genetics · 2019Article
- Responsibility, identity, and genomic sequencing: A comparison of published recommendations and patient perspectives on accepting or declining incidental findings.Molecular genetics & genomic medicine · 2018Article
- The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.American journal of human genetics · 2018Article
- What People Want to Know About Their Genes: A Critical Review of the Literature on Large-Scale Genome Sequencing Studies.Healthcare (Basel, Switzerland) · 2018Review
- Screening for germline mutations in mismatch repair genes in patients with Lynch syndrome by next generation sequencing.Familial cancer · 2018Article
- Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study.European journal of human genetics : EJHG · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 6 institutions in 1 country.
Funding
Abstract
Whole exome sequencing (WES) uses next generation sequencing technology to provide information on nearly all functional, protein-coding regions in an individual's genome. Due to the vast amount of information and incidental findings that can be generated from this technology, patient preferences must be investigated to help clinicians consent and return results to patients. Patients (n = 19) who were previously clinically diagnosed with Lynch syndrome, but received uninformative negative Lynch syndrome genetic results through traditional molecular testing methods participated in semi-structured interviews after WES testing but before return of results to explore their views of WES and preferences for return of results. Analyses of interview results found that nearly all participants believed that the benefits of receiving all possible results generated from WES outweighed the undesirable effects. The majority of participants conveyed that relative to coping with a cancer diagnosis, information generated from WES would be manageable. Importantly, participants' experience with Lynch syndrome influenced their notions of genetic determinism, tolerance for uncertain results, and family communication plans. Participants would prefer to receive WES results in person from a genetic counselor or medical geneticist so that an expert could help explain the meaning and implications of the potentially large quantity and range of complicated results. These results underscore the need to study various populations with regard to the clinical use of WES in order to effectively and empathetically communicate the possible implications of this new technology and return results.
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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.