Thursday 26 January 2012
Newborn screening under the spotlight in Parliament
Newborn screening for Duchenne muscular dystrophy was the focus of an All Party Parliamentary Group for Muscular Dystrophy meeting yesterday. MPs and Peers discussed with an expert panel the benefits of newborn screening and the obstacles to overcome before a test can be set up and implemented.
The expert panel giving evidence were:
- Dr Juliet Ellis, Freelance Biochemist, Honorary Senior Lecturer, The Randall Division, King's College London
- Dr Stuart Moat, Director, Wales Newborn Screening Laboratory, University Hospital of Wales, Cardiff
- Professor Francesco Muntoni, Chair of Paediatric Neurology, Institute of Child Health, Dubowitz Neuromuscular Centre, University College London
The discussions, chaired by Baroness Thomas of Winchester, centred around a few core themes, including:
- Development of a safe and reliable newborn screening test
- Benefits of the newborn screening test
- Research into potential new treatments
- Strict regulations of the UK National Screening Committee
- Withdrawal of the newborn screening test for Duchenne muscular dystrophy in Wales
An application for newborn screening for Duchenne muscular dystrophy has been submitted and is currently in a consultation period until the end of March 2012.
The panel commented on the need for a safe and reliable newborn screening test to be developed and for vital links to commercial partners to be built up. The European NeuroMuscular Centre was highlighted as a key resource for knowledge and expertise to be gathered.
There are numerous benefits to the test being developed. An early diagnosis enables anticipatory care to be put in place and the condition to be managed from an earlier stage, which has a significant beneficial impact in the longer term.
Phillippa Farrant, whose son Dan has Duchenne muscular dystrophy, spoke during the session. She commented afterwards:
I am really glad that MPs and Peers are highlighting the vitally important issue of newborn screening for Duchenne muscular dystrophy. It has been very helpful to have the opportunity to discuss the benefits of a newborn screening test and to establish the developments that need to take place.
The experts emphasised that the current delays in diagnosis result in many difficulties - physical and psychological - for both the patient and family.
The panel pointed out that, with potential treatments on the horizon, the ideal way forward would be for a test to be developed parallel to research into new treatments.
The MPs and Peers expressed concern at the restrictive criteria that the National Screening Committee has put in place for approval of a newborn screening service. The criteria include a cure for the condition, symptoms exhibited at birth and treatment at birth.
The APPG also explored the reasons behind the recent withdrawal of the newborn screening test for Duchenne muscular dystrophy in Wales and the forthcoming developments regarding a more safe and reliable test.
The panel outlined some of the next steps in the newborn screening application process:
- Consultation input until the deadline of the end of March
- Further reviewing of the content of the application
- European NeuroMuscular Centre workshop discussing potential developments
It was suggested at the session that, if all the necessary test, regulatory and treatment requirements were put in place, a newborn screening service could potentially begin to implemented in 5 years.
For more information about the All Party Parliamentary Group session, please get in touch:
020 7803 4839
campaigns@muscular-dystrophy.org
