Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example.
Genet Med
; 19(9): 1032-1039, 2017 09.
Article
in En
| MEDLINE
| ID: mdl-28301457
ABSTRACT
PURPOSE:
Broadening 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.METHODS:
A 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.RESULTS:
The 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.CONCLUSION:
The 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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ophthalmology
/
Genomics
/
Delivery of Health Care
/
Standard of Care
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Aspects:
Determinantes_sociais_saude
/
Implementation_research
/
Patient_preference
Limits:
Female
/
Humans
/
Male
Language:
En
Journal:
Genet Med
Journal subject:
GENETICA MEDICA
Year:
2017
Document type:
Article
Affiliation country:
United kingdom