ArticleMolecular genetics & genomic medicine2020
Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
9 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review.Journal of neurology · 2022Pooled it
- A Systematic Review of Discrete Choice Experiments and Conjoint Analysis on Genetic Testing.The patient · 2022Pooled it
- Predictive testing for Huntington's disease in a digital age; patient power with potential pitfalls.European journal of human genetics : EJHG · 2025Article
- Genetic Testing in Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2023Article
- Genetic Data Governance in Japanese Hospitals.Asian bioethics review · 2023Article
- Moving beyond disclosure: Stages of care in preclinical Alzheimer's disease biomarker testing.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022Article
- Ethical Considerations on Pediatric Genetic Testing Results in Electronic Health Records.Applied clinical informatics · 2020Article
- 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
- Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundClinical care teams providing presymptomatic genetic testing often employ advanced confidentiality practices for documentation and result storage. However, patient requests for increased confidentiality may be in conflict with the legal obligations of medical providers to document patient care activities in the electronic health record (EHR). Huntington disease presents a representative case study for investigating the ways centers currently balance the requirements of EHRs with the privacy demands of patients seeking presymptomatic genetic testing.
methodsWe surveyed 23 HD centers (53% response rate) regarding their use of the EHR for presymptomatic HD testing.
resultsOur survey revealed that clinical care teams and laboratories have each developed their own practices, which are cumbersome and often include EHR avoidance. We found that a majority of HD care teams record appointments in the EHR (91%), often using vague notes. Approximately half of the care teams (52%) keep presymptomatic results of out of the EHR.
conclusionAs genetic knowledge grows, linking more genes to late-onset conditions, institutions will benefit from having professional recommendations to guide development of policies for EHR documentation of presymptomatic genetic results. Policies must be sensitive to the ethical differences and patient demands for presymptomatic genetic testing compared to those undergoing confirmatory genetic testing.
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