Rare Disease Validation and Reporting Lead Scientist

Dom McMullan is a Consultant Clinical Scientist at West Midlands Regional Genetics Laboratories (WMRGL), Birmingham and leads the Germline Programme of the laboratory service, which encapsulates all rare disease and reproductive genetic testing serving a patient population of ~5.6 million.

His interests lie broadly in application of genomic technologies in detection and interpretation of structural and sequence variation; in particular in patients with developmental disorders/congenital anomalies both in the postnatal and prenatal settings. He is a Principal Investigator and WMRGL lead on the UK HICF Prenatal Assessment of Genomes and Exomes (PAGE) project.

He is current Chair of Association of Clinical Genomic Science (ACGS) and is involved nationally with many various initiatives centred on delivery of the 100,000 genomes project and the development of the UK Clinical Genomics service.