Parents' Experiences of Array CGH test_Version1.0
Research type
Research Study
Full title
Exploring parents' experiences of Array Comparative Genomic Hybridisation tests, when requested by a Paediatrician
IRAS ID
195380
Contact name
Angus Clarke
Contact email
Duration of Study in the UK
0 years, 7 months, 8 days
Research summary
Array comparative genomic hybridisation (array CGH) is now the frontline genetic test for patients with symptoms of learning disabilities, developmental delay, autistic spectrum disorder, dysmorphism and congenital anomalies. Array CGH detects chromosomal imbalances (deletions or duplications) on a genome-wide scale, useful when the underlying genetic cause of a patient's clinical features is unknown.
These imbalances may be pathogenic or benign and can be further categorised:
- diagnostic - the alteration is likely to be the cause
- no abnormality detected – there is no genetic cause or current technology is unable to detect one
- susceptibility – the alteration does not directly cause the features but increases the likelihood of developing the disorder
- incidental findings – the alteration is unrelated to the initial reason the test was requested
- variants of unknown significance – the impact of the imbalance is currently unknown.The variety of the potential results adds complexity for the clinician explaining the test to patients. To provide informed consent, patients must be informed of the test, its limitations, possible results and their impacts.
Due to the clinical features that it tests for, the majority of array CGH tests are carried out on children. These were initially requested by the Genetics service, who are well practised at explaining the process of genetic testing. As part of main-streaming healthcare, array CGH tests are now also being requested by Paediatricians. In certain cases (e.g. diagnostic findings or complex results) Paediatricians refer patients to Clinical Genetics. The process of being referred from a service to another could affect patients’ experiences of the test.
Despite the complexity of the possible results of an array CGH test, little research has been carried out into experiences of array CGH as a frontline test, none of which have been in Wales. This study aims to fill this gap.
REC name
East Midlands - Leicester Central Research Ethics Committee
REC reference
16/EM/0029
Date of REC Opinion
21 Jan 2016
REC opinion
Further Information Favourable Opinion