ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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
13 citing papers in PubMed.
- Leveraging Next-Generation Phenotyping in Dysmorphology to Support Variant Interpretation in Mowat-Wilson Syndrome.Neurology. Genetics · 2026Article
- Investigating the frequency of unreported cases and laboratory correspondence practices for variants of uncertain significance in pediatric epilepsy.Epilepsia open · 2025Article
- Ectodermal dysplasia: a narrative review of the clinical and biological aspects relevant to oral health.Frontiers in pediatrics · 2025Review
- Challenges in Implementing Comprehensive Precision Medicine Screening for Ovarian Cancer.Current oncology (Toronto, Ont.) · 2024Review
- Article
- Empowering personalized pharmacogenomics with generative AI solutions.Journal of the American Medical Informatics Association : JAMIA · 2024Article
- Mapping the use of cardiovascular genetic services in pediatric clinical care: challenges and opportunities for improvement.Frontiers in genetics · 2024Article
- Clinical implications of conflicting variant interpretations in the cancer genetics clinic.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss.PLoS computational biology · 2022Article
- COL4A4 variant recently identified: lessons learned in variant interpretation-a case report.BMC nephrology · 2022Article
- Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.HGG advances · 2022Article
- Integrating clinical genetics in cardiology: Current practices and recommendations for education.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Delivering Genetic Testing for Patients with Prostate Cancer: Moving Beyond Provider Knowledge as a Barrier to Care.Cancer control : journal of the Moffitt Cancer CenterArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeEfforts have been made to standardize laboratory variant interpretation, but clinicians are ultimately tasked with clinical correlation and application of genetic test results in patient care. This study aimed to explore processes clinicians utilize when reviewing and returning genetic test results, and how they impact patient care.
methodsMedical geneticists, genetic counselors, and nongenetics clinicians from two Midwestern states completed surveys (n = 98) and in-depth interviews (n = 29) on practices of reviewing and returning genetic test results. Retrospective chart review (n = 130) examined discordant interpretations and the impact on care.
resultsParticipants reported variable behaviors in both reviewing and returning results based on factors such as confidence, view of role, practice setting, and relationship with the lab. Providers did not report requesting changes to variant classifications from laboratories, but indicated relaying conflicting classifications to patients in some cases. Chart reviews revealed medically impactful differences in interpretation between laboratories and clinicians in 18 (13.8%) records.
conclusionClinician practices for reviewing and integrating genetic test results into patient care vary within and between specialties and impact patient care. Strategies to better incorporate both laboratory and clinician expertise into interpretation of genetic results could result in improved care across providers and settings.
Indexed as
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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.