The National Screening Committee (NSC) has today (28 November) recommended against screening for Duchenne muscular dystrophy at birth.
Why isn’t newborn screening going ahead?
In its recommendation, the NSC highlights the lack of a reliable testing procedure as the central reason for not moving ahead with newborn screening.
Statistics from previous newborn screening programmes for Duchenne show the test wrongly gave negative results in around 20% of cases – known as ‘false negatives’. ‘False positive’ rates were also relatively common.
Muscular Dystrophy UK fully recognises the need for the accuracy of the test to be improved. Dr Stuart Moat at the University of Cardiff is leading work in partnership with the company PerkinElmer to develop a more accurate and specific test.
Muscular Dystrophy UK supports this promising initiative which has the potential to lead to an improved test in the near future.
Why is screening for Duchenne important?
There are lots of potential benefits to screening for Duchenne. MDUK does not believe that the NSC has fully taken these into account.
Key factors include:
- New and emerging treatments for Duchenne, that are likely to have the most benefit the earlier they are administered.
- Children continue to be misdiagnosed and diagnosed late, meaning they miss out on early treatment, leading to poorer health outcomes.
- Families whose children were screened at birth report it helped them plan ahead and make adjustments to their lives at an earlier stage.
- Current evidence indicates that steroid therapy should be commenced at an early stage to allow children maximum, long term benefit.
- Children diagnosed and starting treatment early have been shown to have better outcomes than those diagnosed late.
For more information, read our evidence to the NSC
Following the NSC’s recommendation, MDUK is convening a meeting in Parliament with families, researchers, clinicians and patient groups on next steps on newborn screening for Duchenne. With treatments coming through and other clear benefits to screening, it’s vital that the UK is ready to enact a newborn screening programme as quickly as possible.
Jeanette George (pictured above), whose son, Alex, was diagnosed via the former newborn screening programme in Wales, says:
Having a very early diagnosis was a positive … because it has allowed us to plan. We can take holidays that we wouldn’t be able to take with an older boy. We can move into accommodation. We have a nice family home with plenty of space, but if we want to have a purpose-built area for Alex, we can do that before Alex begins to think that we are moving out because of him. We can plan and put things in place; I changed my career. I think with an early diagnosis, we can try and spend more time at home, taking the positive out of it. Alex gets assessed every six months, so any change in his wellness will be picked up immediately. He has taken steroids from the age of four.
Jane Field, whose son, Murray, has Duchenne, says:
Murray wasn’t diagnosed until he was seven-and-a-half years old, and that delayed all aspects of his treatments. He lost out on almost four years that he could have been taking essential steroids which could have given him several extra years on his feet. This meant that Murray ended up using a wheelchair much sooner. Not knowing about Murray’s condition also brought about an enormous amount of stress for us. We had to move out of our family home and start again. We had to think about different schools for Murray. I can only speak from my own point of view, and having a son diagnosed at seven-and-a-half is horrific.
Professor Francesco Muntoni at Great Ormond Street Hospital, says:
In a child at around the age of five, already one third of the muscle mass has been lost. Avoiding progressive muscle loss is of paramount importance for this condition. Anticipatory care is necessary to retain as much function and muscle mass as possible. You don’t wait until there is a big problem and then start finding a way to patch it. When children are diagnosed, they already have been symptomatic. They really have lost a lot of ground…the later you start steroid treatment the less it will have an effect. So if you start the steroid the day before, for example, or a week before children are going to stop walking, it will have no effect. If you start much earlier, they will prolong the ability to walk for four to five years, which makes a huge difference to subsequent life-expectancy.
How is Duchenne muscular dystrophy screened?
The test for Duchenne muscular dystrophy looks for the presence of creatine kinase (CK) in dried blood spots collected on Guthrie cards. CK is a protein found in muscle but when the muscles are damaged, owing to disease or injury, it leaks into the bloodstream. Once a positive CK result has been obtained from the original Guthrie card test, it is repeated six to eight weeks later as there is a risk of false positives as a result of the natural trauma associated with some births. If the levels are still high in this repeated test, this could indicate muscle damage. Genetic testing is then used to confirm or reject a diagnosis of Duchenne muscular dystrophy.
For more information, please contact Peter Sutton on firstname.lastname@example.org or call 020 7803 4838