1. An International Partnership for Rare Disorder Screening Dr Jim Bonham Clinical Director Sheffield Children’s NHS FT

2. Outline The vision - working in partnership What are inborn errors of metabolism? The benefits of screening and early detection The challenges facing developing countries trying to establish services What can the NHS bring to the problem? How might all this work in practice? Where are we up to? The future

3. The Vision The UK National Health Service, Professional organisations, Commercial organisations working in partnership to tackle practical problems in overseas markets adding value to each contribution Working with local health professionals to implement “whole pathway” screening programmes in an ethical and effective way Helping with set-up, progress to local sustainability and move on An ethical kite mark to warrant, appropriateness, governance, a track to local sustainability Closely defined commercial value behind each component

4. What are inborn errors of metabolism? One of a group of “Rare disorders”, collectively rare disorders affect 1:17 of the population IEM’s produce a “block” in metabolism They result in “endogenous” poisoning Can often result in death or long tern neurological damage They are individually rare but collectively common They are often asymptomatic at birth They can be treated by diet, enzyme replacement or co-factors + advice when unwell Outcome is good when treated.

5. The benefits of screening and early detection Treatment before symptoms develop is far more effective It is usually cost effective It provides information for reproductive choices It avoids a prolonged diagnostic odyssey It is generally only effective by screening, as the children are difficult to recognise clinically when well.

6. The challenges facing developing countries trying to establish services Not a lack of desire or need Access to sensible and impartial advice The requirement for different groups of staff to work together i.e. doctors, dietitians, scientists The need for access to complex confirmatory testing A lack of equipment, reagents and field support A lack of training for scientists, doctors and dietitians A lack of dietetic products at an affordable price The temptation to set up disparate services and standalone testing.

7. What can the NHS bring to the problem? A significant understanding that “screening is a programme not a test” A careful and considered approach commanding international respect particularly in India Experience in developing good governance arrangements Training and education opportunities Telemedicine support Links into key professional organisations.

8. How will the practical aspects work? Careful scoping for feasibility and appropriateness Initial remote /local screening on a tiered basis Remote confirmatory testing – with input from the NHS Dietary and Medical treatment – with input from agreed nutriceutical companies, local services and the NHS On-going treatment and monitoring – with input from local services and the NHS via remote testing and telemedicine A progression to locally sustainable services with on-going educational support and two way collaboration Then a move onto another centre.

9. Where are we up to? We already undertake screening for Gibraltar and Singapore, we have had approaches from South Africa, Namibia, Ukraine and 20 doctors are coming from Russia later this month Nestle and Perkin Elmer have signed a joint business collaboration agreement UK India Business Council, Tata Communications and NHS Global are backing the project The National screening committee will give support Introductions have been made to DFID Meetings are planned with UK India business Council/ NHS Global/Tata GOSH business development unit, SC(NHS)FT in December

10. The future The concept is generalisable and applies as well to tele-radiology as to newborn screening Indeed any area in healthcare where the rate limiting step is expertise rather than technology or medical products It helps address the “Rare Diseases” agenda nearer home – solutions for India may be solutions for Yorkshire