Individual research recommendation details

Recommendation ID

CG128/4

Question

Comparative genomic hybridisation array:- What is the effectiveness and acceptability of comparative genomic hybridisation (CGH) array compared with current genetic testing in children and young people with identified autism?

Any explanatory notes
(if applicable)

Why this is important:- Recent scientific advances have led to the detection of genetic abnormalities that may partly or wholly explain why a child or young person has autism. As the tests become increasingly sophisticated (for example using methods such as comparative genomic hybridisation (CGH) array that detect more subtle variations), more genetic abnormalities are being identified, although their causal role in autism is not always clear. Improved detection of genetic causes of autism could increase the precision of genetic counselling for parents of a child or young person with autism and also for the wider family. At present, the yield of abnormal genetic results using CGH array is known to be higher in those with dysmorphic features and/or intellectual disability, but this may extend to the wider autismpopulation with increasing test sophistication. Before extending CGH array testing to a wider population, it is important to have a better understanding of its diagnostic yield. It is also essential to identify any negative consequences that may result from routine testing.

Source guidance details

Comes from guidance

Autism spectrum disorder in under 19s: recognition, referral and diagnosis

Number

CG128

Date issued

September 2011

Other details