Health Science in the NHS:

Transcription

1 Health Science in the NHS: Getting Ready to Apply Genomic Knowledge into the NHS Angela Douglas, Scientific Director 16 th April 2014

2 Content of Talk What is Genomics the Science What Genomics can do for Patients How we are approaching this across NW Coast Insight into an innovative service model Going forward enabling practical implementation What the future holds challenges in the NHS How we will transform NHS Service Delivery

3 WHO definitions of Genetics and Genomics Genetics is the study of heredity, inheritance and variation of inheritance All medical specialties, all ages Genomics is defined as the study of genes and their functions, and related techniques Used in Genetics and Pathology The main difference between genomics and genetics is that genetics scrutinises the functioning and composition of the gene(s) where as genomics addresses all genes and their inter relationships in order to identify their combined influence on the growth and development of the organism Genetics is just one part of Genomics

4 From the Cell to the Sequence

5 Making the UK a World Leader in Genomics and Bioinformatics The Proposal: By Combining NHS Clinical Information with new Genomic sequences there is real opportunity to capitalise on past investments in the NHS and Medical Research Three Key Objectives: To harness the potential of genomic technology by the NHS to improve patient outcomes and healthcare To maximise the opportunities for research and translation of research findings into health and economic benefits for the UK To support the Growth of UK Genomics and Bioinformatics companies, including Small Businesses by enabling the creation of Genomic Platforms for innovation HEALTH & WEALTH

6 What does this mean for Patients Cancer number one cause of death in children in the UK 1,600 new cases of childhood cancer, and 260 children under the age of 15 dying of the disease each year 1 in young adults is now a childhood cancer survivor, with over 33,000 childhood cancer survivors in the UK Cancer is heterogeneous there are many types Each one has a different treatment Each treatment is very expensive 10, ,000 per patient Each patient has a different response to treatment Stratified/Personal/Precise Medicine

7 Stratified/Personal/Precise Medicine Stratified medicine means looking at large groups of cancer patients to try and find ways of predicting which treatments cancers are likely to respond to. It involves looking in detail at the cancer cells and their genetic make up. We know that some treatments are more likely to work in cancers that have particular changes to their genes. This is the first step towards personalised medicine. Personalised medicine uses genetic and other information to diagnose and treat disease. Carrying out research with large groups of cancer patients, allows us to predict response to treatments. Then we can tailor cancer treatment very precisely to an individual person s cancer. 28 Apr 14 7

8 Thomas s Story Thomas 4yrs Old, presented at Alder Hey with?acute Lymphoblastic Leukaemia (ALL) Important to know the exact type to treat him Needed Genetics/Genomics BM sample failed to give dividing cells we needed, to make Chromosomes visible Targeted FISH tests didn t show an abnormality Treatment according to other pathology tests - Unsuccessful Attended an MDT meeting Discussed Thomas Already using Microarray Technology for Children with Learning Difficulties Apply Extensive Knowledge and Expertise Working across Organisations we agreed to use this innovative acgh test Extracted DNA from Pathology Block and carried out Genomic microarray testing

9 Result for Thomas Result told us Thomas had a unique type of Leukaemia that if targeted with the right therapy had a Good Prognosis Able to plan Thomas s management appropriately Didn t need to repeat BM biopsy Right treatment in time Spared Thomas BMT Not needed Provided biomarkers to monitor his progress using cost effective FISH Test Thomas is now doing well His treatment involved him being on chemotherapy for one week and then having two weeks off for 3 months A good result for Thomas

10 Which got me thinking..

11 From Silos to Partnerships Genomic Pipeline Basic & Pre Clinical Research Clinical Research Translational Research Routine Testing

12 Genomic Pipeline Genomic Pipeline Basic & Pre Clinical Research Clinical Research Translational Research Routine Testing

13 Genomics Network Patient Needs and Expectations Scope of Services: Well defined, Provide what s needed, No duplication Understand the whole health economic costs Stakeholder Relationships, manage them Share Risks and Rewards for Evidence based best practice Know our resources and workforce capacity

14 NW Coast Genomics Healthcare, The art of the Possible Patients Needs and Expectations High Quality, Innovative Care AQUIRED DSEASE (CANCER) INFECTIOUS DISEASE RARE DISEASES Inherited/Sporadic COMPLEX DISEASE PHARMACO GENETICS LHP Board NHS CEO s (Governs) NWC Genomic Board (Sets the rules, makes decisions) Service Research Translation Education

15 Take Home Message Start of a real revolution in patient care and for patient benefit Understand how we get more out of the system for the same or less money Genomic partnerships will provide more local, visible presence, demonstrating to the Public and Commissioners value for money Your Organisations/Patients are accessing these services, Genomics should concern you Learn to share the risks and rewards across Organisational Boundaries for the benefit of Patient's Health

16 Your Call to Action Patients don t always recognise our titles or what Organisation we come from, they do recognise good coherent co-ordinated care and that is what they expect from their NHS The Secretary of State acknowledges the Importance of Networks and Partnerships, these are even more important in the new NHS architecture Simon Stevens said Genomics is going to be seismic We all need to work together to do the right thing, to get rid of variation in access and practice Because Patients deserve better they deserve the best

17 Questions