Exploring parents’ experiences of CFSPID
Research type
Research Study
Full title
Exploring parents’ experiences of CFSPID designation: interview study
IRAS ID
278871
Contact name
Faye Johnson
Contact email
Sponsor organisation
University of Manchester
Clinicaltrials.gov Identifier
ISRCTN29644140, ISRCTN
Duration of Study in the UK
1 years, 3 months, 10 days
Research summary
Within the first few days of life, a small blood sample (‘heel prick’) screens the newborn baby for inherited conditions, including cystic fibrosis (CF). Cystic fibrosis screen positive, inconclusive diagnosis (CFSPID) is a designation given to infants with a positive screening result for cystic fibrosis, for whom a definitive CF diagnosis cannot be confirmed. CFSPID is a designation, not a diagnosis, because affected infants do not have a disease or symptoms. Current evidence suggests that although some CFSPID children may develop an atypical form of CF, the majority are healthy, and will never develop the disease in any form.
Although a result of uncertain significance is not the same as a diagnosis of a disease, research suggests that genetic results like CFSPID can have negative psychological consequences. There are clear ethical questions to be asked about the potential impact of making families aware of a disease which may never arise. These issues affect not only individuals but could have a significant social and economic impact as well.
The purpose of this study is to explore parents’ experience of receiving a CFSPID result for their child. This will be achieved by interviewing parents about their experiences, using an in depth interviewing approach. Parents of children with CFSPID will be recruited through NHS cystic fibrosis clinics in England.
The results from this study will be used to develop a theory of the psychological impact of uncertainty in genetic screening. This theory will be used to develop guidance for healthcare professionals working in genetics, in order to reduce potential harms of screening and maximise benefit. It is important that developments in screening policy take children and families’ needs and best interests into account.REC name
South Central - Berkshire B Research Ethics Committee
REC reference
21/SC/0194
Date of REC Opinion
6 Jul 2021
REC opinion
Further Information Favourable Opinion