Factors affecting cascade genetic screening and counselling
Research type
Research Study
Full title
Factors affecting cascade genetic screening and counselling for autosomal recessive conditions in affected families served by Sheffield Children’s Hospital: Patient and provider perspectives
IRAS ID
123065
Contact name
Oliver Quarrell
Contact email
Sponsor organisation
Sheffield Children's NHS Foundation Trust
Research summary
The inherited nature of genetic health conditions makes them a family concern. When one person is diagnosed with a genetic condition, this automatically raises questions about the risk of illness for related individuals, including children yet to be born. However, sharing information among family members may not be straightforward, raising a host of personal, ethical and practical issues. This is particularly so for conditions where individuals can be healthy carriers, living life unaware of the genetic risk that they carry. As genetic technologies develop and testing for even very rare conditions expands, there is a growing need to develop effective and appropriate approaches to offering genetic services to wider family members. Furthermore, increasing ethnic and religious diversity of the local population makes it important that such approaches are adequately responsive to diverse patient needs. Indeed, advances in genetic services must be made as accessible to all groups of people as possible. Currently we know little about the factors that encourage or discourage genetics service users - particularly those from minority ethnic groups - from sharing information with other family members (we call this ’cascading’). This gap in understanding makes it difficult for service providers to know how to approach this issue effectively. This research aims to understand in detail patients and providers’ perspectives on the issue of cascading information and services within families. We will carry out detailed interviews with service users from a range of ethnic and religious backgrounds, and also with genetics counsellors working within the Clinical Genetics Service at Sheffield Childrens Hospital. We will also analyse the clinic data to describe the patterns of cascading that occur across different groups to see if there are important differences. Findings will be used to develop improved approaches to cascading that will be tested in a follow on study.
REC name
Yorkshire & The Humber - South Yorkshire Research Ethics Committee
REC reference
13/YH/0186
Date of REC Opinion
6 Aug 2013
REC opinion
Further Information Favourable Opinion