In conclusion, the Imagining Futures research project has revealed a complex picture of attitudes towards screening amongst families living with SMA. It has revealed that the majority of respondents (75%) were in favour of some form of screening for SMA, irrespective of whether screening technologies can determine the Type of SMA. This finding is significant as it challenges the views expressed in the national consultation on SMA Screening (NSC, 2013) that being able to determine the Type of SMA is imperative to any screening programme for SMA. This research highlights that the issue of being able to determine the Type of SMA is not a priority to the majority of people with experience of SMA.
Pre-conception screening emerged as the most popular screening programme (77% of respondents supported it) as survey responders appeared to favour early information and the maximum reproductive options for prospective parents. Part of the appeal of pre-conception screening was the possibility that it might reduce the number of SMA-related pregnancy terminations and enable carrier couples to use other reproductive options such as Preimplantation Genetic Diagnosis(PGD) or donated eggs/sperm. For the 23% of respondents who disagreed with it, concerns about social engineering and carrier stigmatisation emerged as the most worrying aspects of pre-conception screening.
Newborn screening emerged as the least popular screening programme (although still popular overall, with 70% of respondents showing support for it), and this screening programme highlighted differences between the way in which adults with SMA and their family members answered. Overall, respondents appeared to want newborn screening primarily because they believed that knowing about the SMA straight away at birth is more important than knowing the specific Type affecting the baby. Enrolment onto clinical trials and the possible reproductive benefits were also key reasons to support newborn screening. Family members highlighted that they also thought that newborn screening would make the diagnosis easier to accept and could also extend the life expectancy of a child with SMA by enabling earlier intervention, although interestingly these factors were not rated as important by the adults with SMA who completed the survey. The most common reason for not supporting newborn screening (30% of sample) was concern about the ethics of screening for conditions for which no cure or effective treatments exist. Moreover, for adults with SMA who voted against newborn screening, concerns about the potential disruption to the early bonding process between parent and child, brought about by a serious diagnosis, was rated as the main concern.
Prenatal screening attracted the support of 76% of the total sample, although this was the screening programme that was the most divisive in that there was a statistically significant (see glossary at the bottom of the page) difference between the number of family members who offered support for this programme than adults with SMA (78% of adults offered support versus 70% of adults with SMA). Prenatal screening might be seen as the most controversial potential screening type as it involves the possibility of the selective termination (abortion) of foetuses (unborn babies) identified as having SMA. Indeed, concerns over this, and more specifically, the concern that those babies might have gone on to live a fulfilling life was the most common reason cited for non-support of prenatal screening. Reasons for supporting prenatal screening included a belief in the need for informed decision-making and a desire to prevent unnecessary suffering.
It is noteworthy that respondents with experience of SMA Type 2, and also adults with SMA themselves, were the groups most likely to vote against both prenatal and pre-conception screening, although this division was not observed in the newborn screening results. Given that these respondents were the most likely to report more positive views of the condition (i.e. that a good quality of life is possible and suffering is not necessarily an integral part of the experience of having SMA), it is perhaps unsurprising that these views were translated into more sceptical views in relation to screening that might prevent the births of those affected by SMA. Indeed, this group (adults with SMA Type 2) was three times more likely than any other group to view the possibility of less people with SMA coming into the world as being a ‘loss to society’.
Respondents with experience of SMA Type 3 produced, arguably, the most surprising results, in that they demonstrated more support for screening than those with experience of SMA Type 2. Whilst SMA Type 3 is described, clinically, as being less severe than SMA Type 2, this group of respondents were significantly more likely to align an SMA diagnosis with suffering and poor quality of life. For these reasons, respondents with SMA Type 3 were closer to those affected by SMA Type 0, 1 and SMARD families (who showed 95% agreement with screening) in the way in which they answered the survey than those with SMA Type 2. This finding suggests that further research is needed to understand the experience of living with SMA Type 3, and the ways in which it differs to that of families living with SMA Type 2.
Finally, this research has highlighted that those with experience of SMA in their family approach reproduction, and more specifically, decisions about whether to terminate or continue with a pregnancy in a set of six hypothetical scenarios, in a different way to women from the general population. Whilst termination of pregnancy for social/circumstantial reasons were accepted similarly by both groups, significant differences were observed in all four cases of hypothetical medical conditions in the child. This finding suggests that people with experience of SMA in their family have a higher threshold in terms of the conditions they would accept in their potential child, than people from the general population.
Further research is needed to explore this further and the possible reasons behind it. More specifically, the various ways in which prior experience with SMA is brought to bear on reproductive decision-making that relates not just to SMA, but also to other conditions. The fact that there were observable differences between the two groups suggests that were a screening programme for SMA introduced, the general public might approach the associated reproductive decisions quite differently to the way SMA families would. It remains to be seen if/how this would impact on the success of any implemented screening programme for SMA.
The next policy review for SMA screening is due to take place in 2016. The results of this study will be fed into any national consultation on SMA screening in the UK.
Statistical significance: refers to a result in a statistical analysis that is unlikely to have happened purely by chance, but rather can be attributed to a specific cause. Statistical significance is different to ‘importance’ because a finding can be statistically significant but not important to our understanding of a topic.