The factors affecting the inherited retinal disease project in South Africa - Including insights from Genetic Counsellors
type: CreativeWork
description: The Inherited Retinal Disease (IRD) Biorepository based in the Division of Human Genetics at the University of Cape Town, has conducted research into the molecular basis of IRD since 1990. Historically, and as part of this programme, patients with IRD are recruited and research into the genetic cause of the patient's disease is initiated, with the ultimate objective of identifying the genetic basis of the disease. An important aspect of the project was to feedback results, especially if it had clinical relevance. The aim of the present research project is to identify factors affecting the result delivery process, with a focus on the non-delivery of results. Method A mixed methodology was used to explore the possible factors which affected non-delivery of results. Quantitative data was collected from the IRD biorepository, and the demographics and other characteristics of patients were explored to gain insight into whether any of these features/characteristics had an impact on result delivery. In addition, a qualitative approach was taken to gain insight into the opinions and experiences of genetic counsellors regarding the delivery of results. The data from this combined mixed methods project provided a reasonably comprehensive view of the result delivery process. Results In the quantitative aspect of the project, analysis of the database reveals that the IRD project had recruited 3413 individuals from 1553 families in the study period analysed (1985-2019). Of these, disease-causing mutations have been identified in 1171 individuals (inferring that they were eligible to receive this information as a ‘result'). Of these individuals, there was evidence that 416 had received their results. Deductively, 755 individuals from 191 families had not received their results. Upon closer inspection of the dataset (including the electronic database and physical subject files/records), there was evidence that an additional 76 subjects had received their results, 46 were deceased …
abstract: The Inherited Retinal Disease (IRD) Biorepository based in the Division of Human Genetics at the University of Cape Town, has conducted research into the molecular basis of IRD since 1990. Historically, and as part of this programme, patients with IRD are recruited and research into the genetic cause of the patient's disease is initiated, with the ultimate objective of identifying the genetic basis of the disease. An important aspect of the project was to feedback results, especially if it had clinical relevance. The aim of the present research project is to identify factors affecting the result delivery process, with a focus on the non-delivery of results. Method A mixed methodology was used to explore the possible factors which affected non-delivery of results. Quantitative data was collected from the IRD biorepository, and the demographics and other characteristics of patients were explored to gain insight into whether any of these features/characteristics had an impact on result delivery. In addition, a qualitative approach was taken to gain insight into the opinions and experiences of genetic counsellors regarding the delivery of results. The data from this combined mixed methods project provided a reasonably comprehensive view of the result delivery process. Results In the quantitative aspect of the project, analysis of the database reveals that the IRD project had recruited 3413 individuals from 1553 families in the study period analysed (1985-2019). Of these, disease-causing mutations have been identified in 1171 individuals (inferring that they were eligible to receive this information as a ‘result'). Of these individuals, there was evidence that 416 had received their results. Deductively, 755 individuals from 191 families had not received their results. Upon closer inspection of the dataset (including the electronic database and physical subject files/records), there was evidence that an additional 76 subjects had received their results, 46 were deceased …
author: Benefeld, Gameda
keywords: Genetic Counselling
date published: 2023
date modified: 2026-07-22T22:23:34Z
provider: University of Cape Town
publisher: Networked Digital Library of Theses and Dissertations
type: WebPage
source organization: Department of Pathology

PropertyValue
property ID: Handle
value: http://hdl.handle.net/11427/37965