DoH NEAT project

New genetic diagnostic technologies for consanguineous families at risk of recessive genetic disease

Funded by the Department of Health’s New and Emerging Applications of Technology scheme.

Project lead: Dr GR Taylor

Purpose and outcomes

Build on existing pilot data using Genechip SNP analysis and a new mutation scanning technology (high resolution DNA melting) with software and technical innovations to improve applications, costs, advantages and limitations of recent developments in genetic technology to diagnosis.

Measure the costs, performance and throughput of high resolution DNA melting against existing mutation scanning technologies including high throughput DNA sequencing. Develop a more robust experimental process for greater ease of use and accuracy.

Evaluate the performance of gene dosage detection and the quality of data output from multiplex ligation probe amplification (MLPA), SNP chip, array CGH (including the novel approach of Amplicon Array CGH) and real-time PCR assays. Develop robust data analysis tools.

Summarise what is currently known regarding multiethnic patient (particularly consanguineous family) attitudes towards genetic testing, carrier testing, prenatal diagnosis etc. Assess the national relevance and develop culturally and linguistically competent patient information resources.

Document the cost, acceptability and clinical benefit of applying these technologies in recessive disease, as seen particularly in consanguineous Southeast Asian families in partnership with the Genetic Interest Group (GIG).

Publish the findings in peer-reviewed scientific literature.

Improve the analysis of consanguineous pedigrees using Genechip data and implement robust operating procedures with the aid of innovative software solutions.

Develop cost-effective gene test kits for rare recessive disease for families at risk, including Alström syndrome, non-syndromal microcephaly, Aicardi-Goutières syndrome.

Where appropriate, submit gene dossiers to the UK Genetic Interest Group to introduce genetic testing for recessive disease.

Organise best practice meetings and publish best practice guidelines based on these findings.