ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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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
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Pooled it
- Assessing the prevalence of unmet need for genetic counseling in Canada and exploring associations with sociodemographic factors.European journal of human genetics : EJHG · 2025Article
- Exploring the potential usefulness of the GCOS-16 for expanded applications.European journal of human genetics : EJHG · 2025Article
- Clinician Awareness of Stickler Syndromes Among Australian Allied Health Care Professionals.Journal of multidisciplinary healthcare · 2024Article
- Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in Australia and New Zealand.Clinical genetics · 2024Article
- The estimation of health state utility values in rare diseases: do the approaches in submissions for NICE technology appraisals reflect the existing literature? A scoping review.The European journal of health economics : HEPAC : health economics in prevention and care · 2023Article
- Using Rasch measurement theory to explore the fitness for purpose of the genetic counseling outcome scale: a tale of two scales.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2023Article
- Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions.Journal of genetic counseling · 2021Article
- Influence of Standardized Nursing Management of Hospital Based on Smart Electronic Medical Blockchain on Nursing Quality of Digestive Endoscopy Room.Journal of healthcare engineering · 2021Article
- The psychosocial and service delivery impact of genomic testing for inherited retinal dystrophies.Journal of community genetics · 2019Article
- Evaluating the Outcomes Associated with Genomic Sequencing: A Roadmap for Future Research.PharmacoEconomics - open · 2019Article
- Genetic counselling in the era of genomic medicine.British medical bulletin · 2018Review
- Congenital cataract: a guide to genetic and clinical management.Therapeutic advances in rare diseaseReview
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 at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeBroadening access to genomic testing and counseling will be necessary to realize the benefits of personalized health care. This study aimed to assess the feasibility of delivering a standardized genomic care model for inherited retinal dystrophy (IRD) and of using selected measures to quantify its impact on patients.
methodsA pre-/post- prospective cohort study recruited 98 patients affected by IRD to receive standardized multidisciplinary care. A checklist was used to assess the fidelity of the care process. Three patient-reported outcome measures-the Genetic Counselling Outcome Scale (GCOS-24), the ICEpop CAPability measure for Adults (ICECAP-A), and the EuroQol 5-dimension questionnaire (EQ-5D)-and a resource-use questionnaire were administered to investigate rates of missingness, ceiling effects, and changes over time.
resultsThe care model was delivered consistently. Higher rates of missingness were found for the genetic-specific measure (GCOS-24). Considerable ceiling effects were observed for the generic measure (EQ-5D). The ICECAP-A yielded less missing data without significant ceiling effects. It was feasible to use telephone interviews for follow-up data collection.
conclusionThe study highlighted challenges and solutions associated with efforts to standardize genomic care for IRD. The study identified appropriate methods for a future definitive study to assess the clinical effectiveness and cost-effectiveness of the care model.Genet Med advance online publication 02 March 2017.
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