ArticleApplied clinical informatics2016
Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates.
Article in Applied clinical informatics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Effect of genetics clinical decision support tools on health-care providers' decision making: a mixed-methods systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- The BabySeq project: implementing genomic sequencing in newborns.BMC pediatrics · 2018Trial
- Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Ethical Considerations on Pediatric Genetic Testing Results in Electronic Health Records.Applied clinical informatics · 2020Article
- The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.American journal of human genetics · 2019Article
- An ancillary genomics system to support the return of pharmacogenomic results.Journal of the American Medical Informatics Association : JAMIA · 2019Article
- Advances in Sharing Multi-sourced Health Data on Decision Support Science 2016-2017.Yearbook of medical informatics · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
Abstract
backgroundPartners HealthCare Personalized Medicine developed GeneInsight Clinic (GIC), a tool designed to communicate updated variant information from laboratory geneticists to treating clinicians through automated alerts, categorized by level of variant interpretation change.
objectivesThe study aimed to evaluate feedback from the initial users of the GIC, including the advantages and challenges to receiving this variant information and using this technology at the point of care.
methodsHealthcare professionals from two clinics that ordered genetic testing for cardiomyopathy and related disorders were invited to participate in one-hour semi-structured interviews and/ or a one-hour focus group. Using a Grounded Theory approach, transcript concepts were coded and organized into themes.
resultsTwo genetic counselors and two physicians from two treatment clinics participated in individual interviews. Focus group participants included one genetic counselor and four physicians. Analysis resulted in 8 major themes related to structuring and communicating variant knowledge, GIC's impact on the clinic, and suggestions for improvements. The interview analysis identified longitudinal patient care, family data, and growth in genetic testing content as potential challenges to optimization of the GIC infrastructure. DISCUSSION: Participants agreed that GIC implementation increased efficiency and effectiveness of the clinic through increased access to genetic variant information at the point of care.
conclusionDevelopment of information technology (IT) infrastructure to aid in the organization and management of genetic variant knowledge will be critical as the genetic field moves towards whole exome and whole genome sequencing. Findings from this study could be applied to future development of IT support for genetic variant knowledge management that would serve to improve clinicians' ability to manage and care for patients.
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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.