Your views are being sought in an Australian study on attitudes to population screening for Duchenne muscular dystrophy
Screening for Duchenne muscular dystrophy has been running in Wales for over 21 years. This screening has seen a reduction in the incidence of boys being born with Duchenne in Wales between July 1990 – April 2010, to 1:4681 (Moat 2010) in comparison to the widely used incidence of 1:3500 boys.
The Welsh screening is performed from the same blood spot taken at birth in Australia called the ‘Guthrie’ or ‘heel prick’. They test in blood for CK, which is creatine kinase, an enzyme normally present in muscle fibres, which leaks into the bloodstream from muscles when they are damaged. It is present at a ‘significantly raised level’ in children with Duchenne compared to the ‘average’ population even from birth. Consent is signed for at the time the ‘heel prick’ ‘ Guthrie’ blood spot is taken so parents can say yes or no to their child being screened for Duchenne. It is not routinely screened on all samples, you have a choice. Creatine kinase is only a ‘marker’ for Duchenne and the diagnosis is not made from this test alone. If a child has a raised ‘CK’ level at birth and a repeat ‘CK’ test remains raised, then the blood sample will need to be sent to a specialised laboratory to look for the specific ‘mutation’ in the muscle protein. This test can take up to 6 weeks.
However population screening for Duchenne is not being ‘routinely’ conducted across the world for many reasons. Cyprus and some states in the USA are conducting, or have conducted, extensive studies to screen for Duchenne. Due to the success of these studies screening options are being offered routinely in some areas, and countries such as England are in the process of considering a screening program to follow their neighbour Wales.
The positive of an early diagnosis is that with informed consent and information families can make choices in regards to their future family planning.
This survey has been produced by Klair Bayley. Klair is currently studying for a Masters by research at the University of Western Australia entitled ‘Determining best practice population screening for Duchenne muscular dystrophy in Western Australia’. Klair is a Registered Nurse and Midwife and mother of a son with Duchenne.
This survey has been compiled as part of this study to gain the Duchenne community perspective towards screening across Australia (and the world).
To access the survey click here.