ArticleJournal of genetic counseling2015
Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling.
Article in Journal of genetic counseling, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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
14 citing papers in PubMed, 1 synthesis or guideline pooled 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
- How people undergoing genomic sequencing interpret and react to varied secondary findings with limited actionability.Personalized medicine · 2025Article
- Great expectations: patients' preferences for clinically significant results from genomic sequencing.Human genetics · 2023Article
- Experiences and lessons learned by genetic counselors in returning secondary genetic findings to patients.Journal of genetic counseling · 2020Article
- A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.European journal of human genetics : EJHG · 2020Article
- A proposal on the first Japanese practical guidance for the return of individual genomic results in research settings.Journal of human genetics · 2020Article
- An ancestry informative marker panel design for individual ancestry estimation of Hispanic population using whole exome sequencing data.BMC genomics · 2019Article
- Criteria for reporting incidental findings in clinical exome sequencing - a focus group study on professional practices and perspectives in Belgian genetic centres.BMC medical genomics · 2019Article
- Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate.European journal of human genetics : EJHG · 2018Article
- Participant Attitudes Toward an Intensive Trial of Multiple Biopsies, Multidimensional Molecular Analysis, and Reporting of Results in Metastatic Triple-Negative Breast Cancer.JCO precision oncology · 2017Article
- Precision medicine in heritable cancer: when somatic tumour testing and germline mutations meet.NPJ genomic medicine · 2016Article
- A protocol for the identification and validation of novel genetic causes of kidney disease.BMC nephrology · 2015Article
- Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis.Journal of neuromuscular diseases · 2015Article
- Insights from exome sequencing for endocrine disorders.Nature reviews. Endocrinology · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The purpose of this study was to investigate how the American College of Medical Genetics and Genomics (ACMG) March 2013 recommendations for reporting incidental findings (IFs) have influenced current practices of genetic counselors involved in utilizing whole exome sequencing (WES) for clinical diagnosis. An online survey was sent to all members of the National Society of Genetic Counselors; members were eligible to participate if they currently offered WES for clinical diagnosis. Forty-six respondents completed the survey of whom 34 were in practice prior to the March 2013 ACMG recommendations. Half of respondents (N = 19, 54.9 %) in practice prior to March 2013 reported that the ACMG recommendations have had a significant impact on the content of their counseling sessions. Approximately half of respondents (N = 21, 45.5 %) report all IFs, regardless of patient age, while one third (N = 14, 30.4 %) consider factors such as age and parent preference in reporting IFs. Approximately 40 % (N = 18) of respondents reported that the testing laboratory's policy for returning IFs has an influence on their choice of laboratory; of those, 72.2 % (N = 13) reported that the option to opt out of receiving reports of IFs has a significant influence on their choice of laboratory. A majority of respondents (N = 43, 93.5 %) found that most patients want to receive reports of IFs. However, respondents report there are patients who wish to decline receiving this information. This study querying genetic counselors identified benefits and challenges that the 2013 ACMG recommendations elicited. Some challenges, such as not having the option to opt out of IFs, have been addressed by the ACMG's most recent updates to their recommendations. Further investigation into larger and more inclusive provider populations as well as patient populations will be valuable for the ongoing discussion surrounding IFs in WES.
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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.