ArticleAmerican journal of human genetics2018
Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02595957 (Genomic Services Research Program), which is not on this map. Cited by 23 papers, 3 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.
Genomic Services Research Program
Who cites it
23 citing papers in PubMed, 3 syntheses or guidelines pooled it, 38 citations in OpenAlex.
- The Psychosocial Impact of Receiving Whole Genome and Whole Exome Sequencing Results in Adults: A Systematic Review.Journal of genetic counseling · 2026Pooled 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
- Return of individual research results from genomic research: A systematic review of stakeholder perspectives.PloS one · 2021Pooled it
- Article
- How people undergoing genomic sequencing interpret and react to varied secondary findings with limited actionability.Personalized medicine · 2025Article
- Opportunistic genomic screening has clinical utility: An interventional cohort study.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).European journal of human genetics : EJHG · 2024Article
- Evaluation of a two-step model of opportunistic genomic screening.European journal of human genetics : EJHG · 2024Article
- Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets.BMC medical genomics · 2022Article
- My Research Results: a program to facilitate return of clinically actionable genomic research findings.European journal of human genetics : EJHG · 2022Article
- Interest in Cancer Predisposition Testing and Carrier Screening Offered as Part of Routine Healthcare Among an Ethnically Diverse Sample of Young Women.Frontiers in genetics · 2022Article
- Primary Care Implementation of Genomic Population Health Screening Using a Large Gene Sequencing Panel.Frontiers in genetics · 2022Article
- Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Exome sequencing study in a clinical research setting finds general acceptance of study returning secondary genomic findings with little decisional conflict.Journal of genetic counseling · 2021Article
- Paediatric genomic testing: Navigating medicare rebatable genomic testing.Journal of paediatrics and child health · 2021Article
- Article
- Opportunistic genomic screening. Recommendations of the European Society of Human Genetics.European journal of human genetics : EJHG · 2021Article
- Returning negative results from large-scale genomic screening: Experiences from the eMERGE III network.American journal of medical genetics. Part A · 2021Article
- Informed Consent in the Genomics Era.Cold Spring Harbor perspectives in medicine · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
28 authors at 10 institutions in 1 country.
Funding
Abstract
While consensus regarding the return of secondary genomic findings in the clinical setting has been reached, debate about such findings in the research setting remains. We developed a hybrid, research-clinical translational genomics process for research exome data coupled with a CLIA-validated secondary findings analysis. Eleven intramural investigators from ten institutes at the National Institutes of Health piloted this process. Nearly 1,200 individuals were sequenced and 14 secondary findings were identified in 18 participants. Positive secondary findings were returned by a genetic counselor following a standardized protocol, including referrals for specialty follow-up care for the secondary finding local to the participants. Interviews were undertaken with 13 participants 4 months after receipt of a positive report. These participants reported minimal psychologic distress within a process to assimilate their results. Of the 13, 9 reported accessing the recommended health care services. A sample of 107 participants who received a negative findings report were surveyed 4 months after receiving it. They demonstrated good understanding of the negative secondary findings result and most expressed reassurance (64%) from that report. However, a notable minority (up to 17%) expressed confusion regarding the distinction of primary from secondary findings. This pilot shows it is feasible to couple CLIA-compliant secondary findings to research sequencing with minimal harms. Participants managed the surprise of a secondary finding with most following recommended follow up, yet some with negative findings conflated secondary and primary findings. Additional work is needed to understand barriers to follow-up care and help participants distinguish secondary from primary findings.
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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.