ReviewHealthcare (Basel, Switzerland)2018
What People Want to Know About Their Genes: A Critical Review of the Literature on Large-Scale Genome Sequencing Studies.
Review in Healthcare (Basel, Switzerland), 2018. 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, 20 citations in OpenAlex.
- Attitudes and beliefs regarding race-targeted genetic testing of Black people: A systematic review.Journal of genetic counseling · 2023Pooled it
- Researcher views on returning results from multi-omics data to research participants: insights from The Molecular Transducers of Physical Activity Consortium (MoTrPAC) Study.BMC medical ethics · 2025Article
- Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal.Annual review of genomics and human genetics · 2023Review
- Patient and Provider Perspectives on Enrollment in Precision Oncology Research: Qualitative Ethical Analysis.JMIR cancer · 2022Article
- Motivations and concerns of patients considering participation in an implementation study of a hereditary cancer risk assessment program in diverse primary care settings.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- The Impact of Communicating Uncertainty on Public Responses to Precision Medicine Research.Annals of behavioral medicine : a publication of the Society of Behavioral Medicine · 2021Article
- Preferences for Updates on General Research Results: A Survey of Participants in Genomic Research from Two Institutions.Journal of personalized medicine · 2021Article
- Engagement and return of results preferences among a primarily African American genomic sequencing research cohort.American journal of human genetics · 2021Article
- Improving interpretation of genetic testing for hereditary hemorrhagic, thrombotic, and platelet disorders.Hematology. American Society of Hematology. Education Program · 2020Review
- Understanding polygenic models, their development and the potential application of polygenic scores in healthcare.Journal of medical genetics · 2020Review
- Clinical Implications of the Genetic Architecture of Dilated Cardiomyopathy.Current cardiology reports · 2020Review
- The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Clinical utility of genomic sequencing.Current opinion in pediatrics · 2019Review
- Next generation sequencing data for use in risk assessment.Current opinion in toxicology · 2019Article
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 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
From a public health perspective, the "All of Us" study provides an opportunity to isolate targeted and cost-effective prevention and early-detection strategies. Identifying motivations for participation in large-scale genomic sequencing (LSGS) studies, and motivations and preferences to receive results will help determine effective strategies for "All of Us" study implementation. This paper offers a critical review of the literature regarding LSGS for adult onset hereditary conditions where results could indicate an increased risk to develop disease. The purpose of this review is to synthesize studies which explored peoples' motivations for participating in LSGS studies, and their desire to receive different types of genetic results. Participants were primarily motivated by altruism, desire to know more about their health, and curiosity. When asked about hypothetically receiving results, most participants in hypothetical studies wanted all results except those which were uncertain (i.e., a variant of uncertain significance (VUS)). However, participants in studies where results were returned preferred to receive only results for which an intervention was available, but also wanted VUS. Concerns about peoples' understanding of results and possible psychosocial implications are noted. Most studies examined populations classified as "early adopters," therefore, additional research on motivations and expectations among the general public, minority, and underserved populations is needed.
Indexed as
Identifiers
What OpenQuestion holds
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.