Attitudes to Screening
Overall, there was support shown for screening across responder groups:
- 75% of responders agreed with the statement ‘I think that screening the population for SMA is a good idea’
When results were broken down by type of screening programme, support for screening remained fairly consistent:
- (77%) supported a pre-conception screening programme
- (76%) supported a prenatal screening programme
- (70%) supported newborn screening
It was noteworthy that support was shown for all screening types in spite of the test not being able to determine the Type of SMA.
Through the use of statistical tests and analysis, we were able to look at the important factors associated with support of screening. These are the things that people thought were most important, and we looked at these for both those who supported screening and those who did not. We found that these varied according to which type of screening programme people were being asked about. The results are set out below.
Pre-Conception Genetic Screening
Pre-conception genetic screening would involve identifying carriers of SMA before a pregnancy is established:
- 77% of respondents overall stated that they would support such a programme in the UK
- 79% of family members showed support
- 69% of adults with SMA showed support
The most common reasons for this were:
- A desire to reduce the number of SMA-related terminations and
- A desire to increase awareness of SMA in the general population
Out of the 23% of respondents who did not support pre-conception screening, the most common reasons for not wanting this were:
- A belief that identifying carriers through a pre-conception screening programme would make them feel stigmatised or different and
- A belief that pre-conception screening is a form of social engineering (a form of manipulation of the genetic make-up of the population)
There were no significant differences between adults with SMA and family members when it came to their reasons for supporting or not supporting pre-conception genetic screening.
Prenatal Genetic Screening
Prenatal genetic screening involves identifying those couples with a high chance of having a baby affected by SMA once a pregnancy is already underway. Pregnant women would be screened through a blood test, and then their partners and/or the baby would then be tested, depending on the results of the initial screen. Termination of the pregnancy would be offered if the pregnancy was found to be affected by SMA.
- 76% of respondents showed support for such a programme in the UK
- 78% of family members showed support
- 70% of adults with SMA showed support
The most common reasons for showing this support were:
- A belief that this type of screening would enable prospective parents to make informed decisions about their pregnancies
- A belief that prenatal screening could prevent unnecessary suffering by reducing the number of babies being born with SMA
For the 24% of respondents who disagreed with prenatal genetic screening, the most common reasons for their non-support were:
- A belief that prenatal screening would prevent people with SMA being born who could have gone on to live fulfilling lives
- A belief that reducing the number of babies coming into the world with SMA would be a loss to society
It is noteworthy that whilst the national consultation on SMA screening highlighted the inability of testing technologies to determine the Type of SMA as a major stumbling block to the implementation of any screening programme for SMA, there was evidence from this survey that screening was nevertheless regarded as useful by the majority of respondents, even in the absence of this specific information.
Newborn Genetic Screening
Newborn Genetic Screening was the final type of screening that respondents were asked about. If such a programme were to be implemented, all babies would be screened by a blood test within the first few weeks of life to determine if they have SMA. This type of screening could also identify some (but not all) carriers of SMA, thus a newborn screening programme could be seen as having reproductive implications for future generations.
A newborn genetic screening programme was rated as the least popular of all the programmes, but nevertheless:
- 70% of respondents reported they would support such a programme in the UK
- 69% of family members showed support
- 74% of adults with SMA showed support
Newborn genetic screening was also the only programme which elicited significant differences between adults with SMA and family members in terms of how they answered.
For both groups, the most common reasons for supporting newborn genetic screening were:
- A belief that early diagnosis is important, even if type cannot be determined
- A belief it would enable early enrolment into clinical trials
- A belief it would enable parents to make informed decisions about subsequent pregnancies
However, family members also identified a further two key issues as being important to their support of newborn screening:
- That it would extend the life expectancy of a child with SMA and
- That it would make the diagnosis easier for parents to accept
Neither of these two reasons were identified by adults with SMA as important.
For the 30% of respondents who did not support a newborn genetic screening programme for SMA, the two key reasons for their non-support were:
- A belief that it is unethical to screen newborn babies for a condition which has no effective treatments or cures and
- A belief that an early diagnosis would interfere with the early bonding between parent and baby
Concerns about early bonding were raised significantly more by adults with SMA than by family members.
Family Members and Adults with SMA
Some important differences were noted between those people who were a relative of someone with SMA and those who had SMA themselves. Most notably, these groups differed when it came to perceptions of SMA as a condition (see Table 3). The largest degree of difference related to whether respondents considered people with SMA to have heightened intelligence, with significantly more family members than adults with SMA agreeing with this statement. Overall however, there was significant evidence that the adults with SMA who participated in the survey held somewhat different views about SMA (and what it’s like to live with) than the family members who participated.
Table 3: Family members and adults with SMA: Views of SMA
Perceptions of quality of life and levels of suffering associated with SMA were both reported more positively by adults with SMA than by family members but, importantly, perceived levels of societal support were lower amongst adults with SMA. These differences in perceptions of the condition might in part explain why more family members than adults with SMA supported screening overall.
Types of SMA
As well as differences between adults with SMA and family members, patterns also emerged across the Types of SMA in terms of how people answered (see Table 4).
Table 4: Views of SMA by SMA Type
Those with experience of the most severe forms of SMA (Types 0, 1 and SMARD) reported the most support for screening (95% of respondents with one of these Types in their family supported screening). Specifically, these respondents wanted a pre-conception or prenatal screening programme, with less support shown for newborn screening. Indeed, respondents from families affected by SMA Types 0, 1 and SMARD were nearly three times as likely to support prenatal and pre-conception screening than respondents from families affected by all other types of SMA.
It is noteworthy as well that whilst the majority of respondents overall (55.8%) agreed that ‘screening for SMA would result in less people with SMA coming into the world who could have gone on to live fulfilling lives’, respondents affected by SMA Types 0, 1 and SMARD were the sub-group who strongly disagreed with this statement. They were also more likely to agree with the attitude statement ‘the termination of the milder types of SMA is necessary in order to prevent the more severely affected children being born’. These findings show that this group not only report the most support for prenatal/pre-conception screening, but also that they hold these views because they are much more likely than other responders to see SMA as incompatible with a satisfying, fulfilling life.
Whilst it might appear unsurprising that families affected by the most severe forms of SMA would report the highest levels of support for SMA screening and to perceive the lowest levels of quality of life, the group next likely to respond in this way were those living with SMA Type 3. Indeed, 74% of respondents who had experience of SMA Type 3 agreed with the statement ‘having SMA causes people to suffer’ as compared with only 43% of those affected by SMA Type 2. Furthermore, whilst 90% of respondents with experience of SMA Type 2 agreed with the statement ‘people with SMA can have a good quality of life’, this dropped to 70% agreement for families living with SMA Type 3 (and only 40% for those living with SMA Types 0, I and SMARD).
These differing views of SMA appeared to feed in to how respondents ultimately felt about screening. There was a much stronger vote for screening amongst those with experience of SMA Types O, I, 3 and SMARD than amongst families affected by SMA Type 2. Indeed, amongst those who disagreed with screening, 83% had experience of SMA Type 2.
Comparison with Women from the General Population
The final part of the analysis for the Imagining Futures project addressed the question of whether SMA families approach reproductive decisions (and more specifically, reproductive decisions around medical conditions in the foetus) differently to people from the general population. Given that any screening programme for SMA would be aimed at members of the general population, it is important to understand how these two groups approach reproductive decisions, and whether differences exist.
In order to measure whether families and adults with SMA hold different attitudes towards selective termination of pregnancy (abortion) to people from the general population, data from the SMA Screening Survey (UK) was compared with another survey, ‘Views and Decisions about Prenatal Screening’ (2003) (Llewando-Hundt et al., 2003), which was completed by 993 pregnant women in the UK. Both groups were asked the same survey question regarding their views on termination in different hypothetical scenarios. Two of these hypothetical scenarios were based on social and economic circumstances in which a woman might opt for a termination (when the family has a low income and cannot afford any more children/if the woman decides she does not wish to have a child) but it also included four medically-orientated situations, describing hypothetical conditions of differing severities and impact in the foetus (see Table 5).
Table 5: Women From the General Population As Compared to Women from SMA Families: Views on Termination of Pregnancy
It was noteworthy that in both of the socially orientated hypothetical scenarios (not wanting/being able to afford more children), there were no significant differences between the way in which women from the general population and women from SMA families answered, with the majority of both groups disagreeing with termination in these circumstances. However, significant differences emerged when the groups were asked about pregnancy terminations for medical reasons, with women from the general population reporting much more agreement with termination than women from SMA families in all four of the listed scenarios.
The most notable differences in responses were observed in the scenario of a child who is certain to have a serious physical disability and will never live independently, where 58% of the women from the general population agreed with pregnancy termination compared with 44% of women from families living with SMA. Similarly, in the scenario of a healthy child who would not grow beyond the height of an 8 year old, twice as many women from the general population agreed with termination than women from SMA families. These findings suggest that experiencing SMA within the family has an effect on attitudes, not only towards pregnancy terminations for SMA, but also for other conditions and disabilities.