This talk will give an overview of the many overlapping challenges and initiatives faced by the UK NHS Clinical Genomics community as we enter the era when WGS potentially becomes a one-stop shop for many diagnostic pathways and personalised medicine becomes a reality, following investment of over £500 million in the launch of 100,000 Genomes project and the establishment of NHS Genomic Medicine Centres. The Association for Clinical Genomic Science (in many ways a “first cousin “organisation to ASDG) formed in 2012 from a merger of the Association for Clinical Cytogenetics (ACC) and the CMGS (Clinical Molecular Genetics Society), reflecting a coalescence of technology, analysis and interpretation. ACGS plays a pivotal role in guiding and inputting into key areas of service and professional development around Quality, Training as well as developments in Science and Technology and is heavily involved, as part of a constituent body of the British Society for Genomic Medicine, in initiatives and various national agendas in UK Clinical Genomics. In England, 2017 will see start of procurement of a new genomic laboratory infrastructure, with networked Regional Genomic Central Laboratory Hubs providing routine diagnostic clinical sequencing and complex WGS analysis, the latter likely provided centrally by a national provider. A National Coordinating Centre will be established within an agreed governance and operational framework that will oversee the test repertoire and support labs to work together. This is the vision. What will it take to make it happen and how will it really work?
Dom McMullan is a Consultant Registered Clinical Scientist at West Midlands Regional Genetics Laboratories, Birmingham, United Kingdom, with 25 years’ experience in all aspects of diagnostic / clinical laboratory genetics. He graduated from the University of Sheffield in Genetics and is a Fellow of the Royal College of Pathologists (Genetics). He leads the Germline Programme of the laboratory service, which encapsulates all rare disease and reproductive genetic testing serving a patient population of ~5.5 million. He is current Chair of the Scientific Subcommittee of the Association of Clinical Genetic Science (ACGS) and Chair of the Scientific Programme Committee for the British Society of Genetic Medicine (BSGM) annual conference. His main 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 and he is co-applicant/collaborator and WMRGL lead on the UK National Health Innovation Challenge Fund (HICF) Prenatal Assessment of Genomes and Exomes (PAGE) project. A strong advocate of the need for improved data-sharing between UK-NHS diagnostic laboratories (and further) he is involved in several initiatives around this with both DECIPHER and the PHG Foundation. He has been involved internationally with the ClinGen (formerly ISCA) consortium as a member of the Gene Dosage Curation working group and as an assessor on multiple UK National External Quality Assessment Schemes (NEQAS) in genetic testing.