ArticlePersonalized medicine
Illustrative case studies in the return of exome and genome sequencing results.
Article in Personalized medicine. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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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
25 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- Impact of patient education videos on genetic counseling outcomes after exome sequencing.Patient education and counseling · 2020Trial
- Written communication of whole genome sequencing results in the NHS Genomic Medicine Service: a multi-centre service evaluation.European journal of human genetics : EJHG · 2024Article
- Balancing scientific interests and the rights of participants in designing a recall by genotype study.European journal of human genetics : EJHG · 2021Article
- Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results.Clinical genetics · 2021Article
- Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium.Journal of personalized medicine · 2021Article
- Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty.Journal of genetic counseling · 2020Article
- Parents' perceptions of personal utility of exome sequencing results.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Prenatal Diagnosis for Primary Immunodeficiency Disorders-An Overview of the Indian Scenario.Frontiers in immunology · 2020Review
- Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges.Journal of genetic counseling · 2019Article
- [Exome diagnostics in neurology].Der Nervenarzt · 2019Review
- Ethical and counseling challenges in prenatal exome sequencing.Prenatal diagnosis · 2018Article
- The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.American journal of human genetics · 2018Article
- Genetic Counseling in the Era of Genomics: What's all the Fuss about?Journal of genetic counseling · 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
- Genetic counselling in the era of genomic medicine.British medical bulletin · 2018Review
- Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study.Journal of genetic counseling · 2018Article
- Clinical providers' experiences with returning results from genomic sequencing: an interview study.BMC medical genomics · 2018Article
- Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact.Clinical genetics · 2018Article
- "Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
Corrections and comments
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Authors and funding
14 authors.
Funding
Abstract
Whole genome and exome sequencing tests are increasingly being ordered in clinical practice, creating a need for research exploring the return of results from these tests. A goal of the Clinical Sequencing and Exploratory Research (CSER) consortium is to gain experience with this process to develop best practice recommendations for offering exome and genome testing and returning results. Genetic counselors in the CSER consortium have an integral role in the return of results from these genomic sequencing tests and have gained valuable insight. We present seven emerging themes related to return of exome and genome sequencing results accompanied by case descriptions illustrating important lessons learned, counseling challenges specific to these tests and considerations for future research and practice.
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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.