Project name: Royal Free London NHS Foundation Trust Tuberous Sclerosis Complex Service Project period: 16 months
Joint working project summary: Tuberous sclerosis is an exemplar rare disease affecting an estimated 1 in 10,000 births and with a measured prevalence of approximately 1 in 20,000 of the population. People with tuberous sclerosis often have complex care needs, encompassing clinical, psychological, social and educational support. The Royal Free London NHS Foundation Trust and Novartis Pharmaceuticals UK Ltd have come together to provide the capability to set up a Tuberous Sclerosis clinic, to improve the management of patients with Tuberous Sclerosis Complex (“TSC”) in North London, Essex & Hertfordshire where currently access to specialist expertise in TSC is fragmented, and to provide focused and high quality care care for patients with TSC.
Expected patient outcomes for this project: It is expected that the development of the TSC Clinic in collaboration with the NHS at the Royal Free London Hospital will result in a robust patient and referral pathway, improved quality of patient care by establishing nurse-led clinics and patient coordination including increased Clinical Genetics Consultant support improved patient experience and outcomes, an increase in appropriately treated patients and access to innovative medicines.
Start Date and Duration: 1st November 2015 – 15th February 2017
ONC15-C025d February 2016
NHS Greater Glasgow & Clyde Molecular Diagnostic Pathway Development
Joint working project summary: This Joint Working Project aims to introduce new molecular techniques into routine clinical practice. A part of this will be to establish two service-focused Clinical Scientists in the GG&C Molecular Pathology laboratory This would include both solid tumours and haematological cancers. The project will develop the following objectives 1. SMC / MPEP identified Companion or stand-alone Diagnostics, from real-time submissions and the Horizon Scanning Process. 2. Supporting the requirements of Regional Commercial and Non-Commercial Clinical Trials. 3. Development of Diagnostic Pathways incorporating efficient and effective sequential testing strategies. 4. Introduction of Next Generation Sequencing and other novel-technologies to routine diagnostic practice. 5. Regular and close interaction with academia (Beatson Cancer Research Institute and the Paul O’Gorman Leukaemia Centre) & Pharma (Novartis & Celgene).
Expected patient outcomes for this project: Improved quality, and equality, of care for patients via rapid and accurate identification of molecular tumour targets, allowing targeting of medicines across NHS Scotland. This will improve cancer outcomes and improve patient experience.
In the first year of this project we will seek a qualitative outcome as a measure of success. This qualitative measure of success will be written evidence from an NHS/independent group representative that the project is developing capabilities in line with the project plan. The representative will be Dr Roma Armstrong, Senior Manager of Research and Development of NHS GG&C
Quantitative patient measurements of benefit for year 1 of this project are listed below:
1. Pick up rate of disease related mutations where conventional approaches (e.g. cytogenetics) have failed to identify a genetic marker. 2. Number of patients who have a potentially treatment altering mutation identified e.g. ASXL1 in MDS where poor prognosis is likely and early transplant may be offered. 3. Measuring time to reporting (the current NGS tests currently sent by NHSGG&C to laboratories in England have a turnaround time of 8-16 weeks).
Start Date & Duration: November 2015 – November 2016