Delivering effective genetic services to populations at high risk of serious genetic disorders of childhood and developing measures to prevent and reduce the perinatal, infant and early childhood mortality (Preconception Optimised Exome Testing, POET)
Project lead: J Vogt, Consultant Clinical Geneticist
Project contributors
Clinical team
- A Ahmed, Specialist Asian Genetic Counsellor
- E Wassmer, Consultant in Paediatric Neurology
- S Santra, Consultant in Inherited Metabolic Disorders
- S Vijay, Consultant in Inherited Metabolic Disorders
- J Raiman, Consultant in Inherited Metabolic Disorders
- V Sreekantham, Consultant in Inherited Metabolic Disorders
- MA Preece, Consultant Biochemist & Director of Newborn Screening
- Scientific team
- C Hardy, Principal Clinical Scientist
- G Elliot, Clinical Scientist
- T Antoniadi, Consultant Clinical Scientist
Summary
This is an innovative proposal to design an ethnicity specific national resource collating clinical diagnoses and molecular genetic results to inform the development of an optimised targeted exome panel for carrier testing in the South Asian population, to address the unmet need and reduce the inequality in health provision for this population.
This registry will also serve to facilitate the identification of patient groups eligible for new treatments and clinical trials, and potentially for ethically approved research initiatives. The practical challenges in genetic counselling will need to be carefully addressed with ethnically and culturally appropriate and sensitive genetic counselling for couples before implementing expanded carrier screening in the clinical setting. This should be accompanied by support in genomic literacy to community, primary and secondary care professionals to enhance access and accurate information to the population about genetic risk and the utility of genomic testing.
This project is an NHS GMS Alliance Transformation Project and has been funded for a pilot study. Recruitment and testing of the first couples has already taken place.