Why the Project was set up


In December 2013, after a national consultation, the National Screening Committee (NSC - the body that advises the Government on issues relating to screening), decided that screening should not be offered to the UK population for SMA at this time. The reasons for this decision were wide-ranging and included concerns about how the test is used by different laboratories, a lack of research evidence about the number of people that SMA affects (and how it affects them), but also concerns about the accuracy of the test results. More specifically, a concern was raised about the test’s inability to determine the Type of SMA to be expected in the child. The NSC decided that not being able to accurately predict the Type of SMA that might affect a child meant that the test could not provide expectant parents with clear and accurate information on which to base their reproductive decisions. You can read more about the NSC’s decision and the evidence they used to reach that decision here.

A striking omission in the national consultation was any research exploring the views of families living with SMA towards the possibility of screening, as very few studies had explored this, and none had done so in the UK. The ‘Imagining Futures’ research project was designed to address this gap in understanding and explore, in detail, the views of families living directly with SMA towards the possibility of population level genetic screening.