RSVP trainmalta@um.edu.mt by latest Friday 15 September 2017.
Genomic Medicine, through the application of high-throughput sequencing, is changing the molecular diagnostic landscape. It is finding increasingly widespread application in clinical diagnostics of rare diseases and cancer, improving diagnostic yield, and shortening the time to diagnosis and the start of appropriate, at times personalised, treatment. It is envisaged that within the next decade genomics will also underpin clinical investigations of common complex diseases. With the emerging gene-specific and mutation-specific therapies, genomics will, in time, supplant even other non-molecular diagnostics.
This policy meeting will bring together leading academic scientists and researchers, consultants, and policy makers with a series of presentations and open discussion surrounding policy making in a genomics era.
Programme
12:00s:
Registration
12:30 - 13:15:
Refreshments
13:30 - 13:45:
Welcome and Opening Remarks
The Hon. Chris Fearne (Deputy Prime Minister and Minister for Health)
13:45 - 14:15:
Improving patient鈥檚 outcome through the 100,000 Genomes Project
Professor Dame Sally Davies
14:15 - 14:45:
EMBL-EBI, ELIXIR and Health Data
Dr Rolf Apweiler
14:45 - 15:00:
Open discussion
15:00 - 15:45:
Break and Refreshments
15:45 - 16:15:
Ethical and legal considerations in the delivery of a genomic medicine service
Professor Anneke Lucassen
16:15 - 16:45:
The genome test result: What do I tell my patients, and why
Professor Kathleen Freson
16:45 - 17:00:
Discussion and closing remarks
17:00:
Close
Invited Guest Speakers
Professor Dame Sally C Davies FRS is the Chief Medical Officer and Senior Medical Adviser to the UK government. Previously she headed the National Institute for Health Research, England. Dame Sally also chairs the UK Clinical Research Collaboration, and is a member of the WHO Global Advisory Committee on Health Research, the board of the Office for Strategic Co-ordination of Health Research, the Medical Research Council and Genomics England. She advises many organisations on research strategy and evaluation. Dame Sally is a haematologist by training with a specific interest in thalassaemia and sickle cell disease.
Dr Rolf Apweiler is joint Director of the EMBL-European Bioinformatics Institute (EBI), together with Professor Ewan Birney, and they have strategic oversight of all EBI services and research programmes. Prior to taking on this position he led protein resources, including the team responsible for EBI's contribution to the UniProt Consortium. Dr Apweiler has made a major contribution to methods for the automatic annotation of proteins. He has spearheaded the development of standards for proteomics data, and his teams have maintained major collections of protein identifications from proteomics experiments (PRIDE) and molecular interactions (IntAct). He also leads EBI鈥檚 contribution to the Gene Ontology.
Professor Anneke Lucassen is Professor of Clinical Genetics within Medicine at the University of Southampton and combines key clinical, laboratory and ethico-legal expertise to research developments in genetic medicine and to affect improved delivery of genomic services to individuals and families. Prof Lucassen has been on the Nuffield Council of Bioethics since 2009. She chairs the British Society of Genomic Medicine鈥檚 ethics and policy committee, is a member of Genomics England ethics advisory committee and plays a key role in the current development of the NHS Wessex Genomic Medicine Centre in South England.
Professor Kathleen Freson is Professor at the University of Leuven and head of the Centre for Molecular and Vascular Biology since 2016. She has a background in bioscience engineering and her research focussed on genetic and biology studies using platelets to unravel new bleeding disorders but she has also studied neurological diseases where the platelet was used as a model cell for the disease. She co-chairs the Multi Disciplinary Team for the clinical high-throughput sequencing platform ThromboGenomics and is member of the NHIR-rare diseases project for Bleeding and Platelet Disorders
