ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Returning negative results to individuals in a genomic screening program: lessons learned.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 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.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The Psychosocial Impact of Receiving Whole Genome and Whole Exome Sequencing Results in Adults: A Systematic Review.Journal of genetic counseling · 2026Pooled it
- A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.American journal of human genetics · 2020Trial
- Elective genomic sequencing for adults in research, clinical and commercial contexts.BMC medical genomics · 2026Article
- Elective genomic sequencing for adults in research, clinical and commercial contexts.medRxiv : the preprint server for health sciences · 2026Article
- Adolescents' and young adults' reactions to and perceived utility of carrier screening results in the context of a genomic research study.Journal of genetic counseling · 2025Article
- Cost-effectiveness of population-wide genomic screening for Lynch Syndrome and polygenic risk scores to inform colorectal cancer screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Negative results from DNA-based population screening for adult-onset diseases: the recipients' experience.Journal of community genetics · 2024Article
- Attitudes, knowledge, and risk perceptions of patients who received elective genomic testing as a clinical service.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- All of Us participant perspectives on the return of value in research.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Evaluation of mailed results versus telephone disclosure of normal cancer genetic test results in a low-risk underserved population.Translational behavioral medicine · 2024Article
- Risk perception and intended behavior change after uninformative genetic results for adult-onset hereditary conditions in unselected patients.European journal of human genetics : EJHG · 2024Article
- Developing video education materials for the return of genomic test results to parents and adolescents.PEC innovation · 2022Article
- Experiences of adolescents and their parents after receiving adolescents' genomic screening results.Journal of genetic counseling · 2022Article
- The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation.Journal of personalized medicine · 2022Article
- Perspectives on returning individual and aggregate genomic research results to study participants and communities in Kenya: a qualitative study.BMC medical ethics · 2022Article
- Behavioral and psychological impact of genome sequencing: a pilot randomized trial of primary care and cardiology patients.NPJ genomic medicine · 2021Article
- Hope versus reality: Parent expectations of genomic testing.Patient education and counseling · 2021Article
- DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- "Who Doesn't Like Receiving Good News?" Perspectives of Individuals Who Received Genomic Screening Results by Mail.Journal of personalized medicine · 2021Article
- "Is that something that should concern me?": a qualitative exploration of parent understanding of their child's genomic test results.HGG advances · 2021Article
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
purposeIn genomics, the return of negative screening results for rare, medically actionable conditions in large unselected populations with low prior risk of disease is novel and may involve important and nuanced concerns for communicating their meaning. Recruitment may result in self-selection because of participants' personal or family history, changing the characteristics of the screened population and interpretation of both positive and negative findings; prior motivations may also affect responses to results.
methodsUsing data from GeneScreen, an exploratory adult screening project that targets 17 genes related to 11 medically actionable conditions, we address four questions: (1) Do participants self-select based on actual or perceived risk for one of the conditions? (2) Do participants understand negative results? (3) What are their psychosocial responses? (4) Are negative results related to changes in reported health-related behaviors?
resultsWe found disproportionate enrollment of individuals at elevated prior risk for conditions being screened, and a need to improve communication about the nature of screening and meaning of negative screening results. Participants expressed no decision regret and did not report intention to change health-related behaviors.
conclusionThis study illuminates critical challenges to overcome if genomic screening is to benefit the general population.
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