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SMA and Screening: The Views of Families - The Imagining Futures Research Project Report by Dr. Felicity Boardman

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.

How the Project was structured

The Imagining Futures project was conducted by me at Warwick Medical School, and was funded by the Economic and Social Research Council (a major funder of social research in the UK). The research consisted of two phases; in-depth interviews and a survey. To support the research and offer advice and guidance, two advisory groups were set up. One advisory group comprised of 6 SMA Support UK (formerly known as The Jennifer Trust) staff members who are experienced at supporting people with SMA. The second committee, known as the ‘expert review panel’ comprised of people living with SMA and their families. Further information about the expert review panel can be found on the project website. The advisory groups were consulted three times throughout the course of the project, once at the start of the project, once to advise on the development of the survey and finally near the end of the project to offer input on the results. Both advisory groups were involved in the development of this report.

Phase One: Qualitative Interviews 2013 - 14

The first phase of the project comprised 36 interviews. Participants were recruited into the study through an advertisement placed in SMA Support UK’s Inspirations newsletter and through their website. Of those who responded and participated in an interview, 24 people had SMA in their family and 12 people had SMA themselves. The participants represented a range of Types and experiences of SMA. During the interviews, participants were asked to talk in detail about their experiences with SMA and also how these might have impacted on any reproductive decisions they had made (particularly their decisions to use or not use screening and testing technologies both for SMA and other conditions), and their views about screening for SMA being offered to the general population. The interviews revealed a wide range of views on screening for SMA, and also the complex ways in which prior experiences with SMA are brought to bear in reproductive decisions.

To give you examples of the range of perspectives, here are two anonymised excerpts from the interviews (reproduced with permission of the participants). The first excerpt, from a parent whose child has SMA Type 1, shows support for screening and a sense of anger and frustration that screening was not available at the time their child was born,

“I think I’d probably vote for screening if it came to a vote, because it’s that person’s choice. So it’s not fair to take the choice away from them if you’ve got the technology already knocking about to give them that choice…[…]…I actually asked the doctor at [hospital] when [child] was diagnosed, how come they missed it as I had all my scans…and he [the doctor] just said it’s not something they test for…[…] and I was gobsmacked. Couldn’t get my head around it at all. And I love [child] to pieces…[…] but the SMA we could do without thanks! So I would just see it [screening] would take away some of those problems…It only seems fair that they [other parents] have a choice because it’s far from easy!”

In contrast to this view, some families and adults with SMA expressed the view that they thought that a national screening programme would mean that people would make decisions about having a child with SMA without insight into the positive things that people with SMA bring into the world, which would be lost if would-be parents opted to terminate their pregnancies affected by SMA. As one parent of a child with SMA Type 2 commented,

“You see what worries me about screening is that you’re being asked to make a decision about having a child with a particular condition before you’ve actually had any experience of that condition. If someone had told me before I had [child] that he’d have SMA, he’d always be in a wheelchair, that he’d be in and out of hospital every year with chest infections, spinal operations what have you, I’d have run away screaming probably! [laughs] People think they can’t cope with a situation until they’re put in that situation and then they just get on with it. My worry is that screening becomes the easy way out. You don’t bother to find out actually how much you can cope with because you’re allowed to press the emergency eject button…[…]….and I know I would have been one of those parents saying ‘I can’t do it, it’s too hard, I can’t take this on’ I just know I would, but do you know what? We’re fine and I’m a stronger better person because of it”

This contrast between the views of those who support screening, and those who had reservations about what screening might mean ran across all of the interviews, highlighting the fact that screening is a controversial topic area for many adults and families living with SMA and that there isn’t a clear cut unanimous viewpoint amongst affected families as to whether screening for SMA is a good idea or not.

Phase Two: The SMA Screening Survey (UK) 2014 - 15

To get a broader understanding of how widespread the views expressed in the interviews were amongst the larger population of people with experience of SMA, the second stage of the project involved sending out a survey, the ‘SMA Screening Survey (UK)’, to as many people as possible who are living with SMA. To design this survey, many of the key ‘themes’ and ideas that were raised in the interviews were turned into survey questions so that a larger population of families could answer how much they agreed or disagreed with the ideas (you can find a link to the SMA Screening Survey (UK) here. The two advisory groups were also asked for their feedback on the survey, and ethical approval for it was granted by the Biomedical and Scientific Research Ethics Committee at Warwick Medical School in the summer of 2014. Two versions of the survey were created- a paper version, which participants could post back using a pre-paid envelope, and an online version, which was hosted on a secure website at the University of Warwick.

The survey opened on September 1st 2014 and was closed on June 30th 2015. People were invited to complete a survey if they had a diagnosis of SMA in their family or were diagnosed with SMA themselves, were aged over 18 and lived in the UK. In order to reach as many people as possible who live with SMA, the survey was sent out through a variety of channels, as listed below:

1. Inspirations Newsletter

A hard copy of the survey was mailed out along with SMA Support UK’s September 2014 copy of their ‘Inspirations’ magazine which goes out to everyone on SMA Support UK’s mailing list. This mailing list includes almost all of the individuals and families with whom SMA Support UK has (or has had) contact with. In total, 1,000 surveys were posted out to households affected by SMA. A reminder to complete the survey was issued by SMA Support UK in December 2014.

2. Websites

A link to the online version of the survey was posted on SMA Support UK’s website and the Imagining Futures website.

3. SMA Patient Registry

A link to the survey was emailed out through the SMA patient registry in September 2014. The SMA patient registry is made up of 538 individuals with SMA and/or their families. A reminder to complete the survey was issued in December 2014.

4. Social Networking Sites

In order to include people who might not be known to SMA Support UK or listed on the SMA patient Registry, social networking sites were also targeted to include a broader spectrum of families living with SMA. The administrators of two Facebook groups (which exist solely to support people living with SMA) were contacted to ask whether they would be happy to post a link to the survey on their group’s page, to which one group agreed and one declined. The survey was also promoted through the facebook page and twitter feeds of both the Imagining Futures project and those of SMA Support UK.

5. Family Networks

Finally, participants in the survey were encouraged to distribute the survey within their own networks of family and friends affected by SMA to maximise participation.

What the survey covered

Participants in the survey were asked a range of questions: demographic (see glossary)  information about their background and the type of SMA affecting their family; their perceived health (and that of their family member affected by SMA); length of time since any SMA-related bereavement; previous use of prenatal testing for SMA or any other condition(s); views about SMA as a condition, including perceived quality of life and level of support from wider society.

Participants were then asked for their views on three potential screening programmes for SMA; a pre-conception screening programme, a prenatal screening programme and a newborn screening programme. A description of these potential screening programmes is described below:

A pre-conception screening programme would identify ‘carriers’ of SMA (people who have the faulty gene associated with SMA but do not have symptoms of SMA themselves) before they have children, or whilst they are planning a pregnancy, in order to be aware of the chances of having a child with SMA before the baby is conceived. Carrier couples identified through a pre-conception screening programme might then choose to either avoid a pregnancy affected by SMA (through the use of genetic technologies such as Preimplantation Genetic Diagnosis (PGD), the use of donated eggs/sperm from a non-carrier, or by avoiding reproduction altogether) or they may choose to accept the 1 in 4 chance that they will have a baby with some form of SMA.

A prenatal genetic screening programme, through the use of a blood test during routine antenatal care (the usual care all pregnant women receive through the NHS) pregnant women who are carriers of SMA would be identified. Where a pregnant woman is found to be a carrier of SMA, the baby’s father would then be invited to undergo a genetic test to determine his carrier status. This would be done to determine the couple’s overall chance of their foetus (unborn baby) having SMA. If both parents are found to be carriers of SMA, a prenatal diagnostic test (a test that could confirm for certain if the foetus had SMA- although not which Type of SMA) would be offered, and in the event of a positive result, the couple would be offered the option of terminating the pregnancy (having an abortion), or support to continue their pregnancy in the knowledge that their baby would be born with some form of SMA.

Newborn genetic screening would identify babies affected by SMA shortly after their birth through a blood test. The screen for SMA would be included alongside the many other screening tests which are currently routinely offered to parents of newborn babies. However, like the other forms of screening described above, a newborn screen for SMA may not be able to accurately diagnose the Type of SMA the baby has, only whether the baby has SMA or not. Newborn genetic screening could also identify some (but not all) babies who are carriers of SMA. This information could then be passed on to the child when they were old enough to understand the meaning of their carrier status (either by a parent or medical professional) and may be used in their own future reproductive decisions.

Within the SMA Screening Survey (UK), respondents were asked for their views on all three of these potential screening programmes, through their agreement or disagreement with a range of ‘attitude statements’. These attitude statements were developed directly from the views of screening that emerged through the interviews conducted in phase one of the project.

Who responded to the SMA Screening Survey (UK)

During the ten months of data collection, a total of 337 surveys were completed. 191 of these were ‘hard copy’ (postal) completions (19% of the 1,000 surveys that were posted out) and 146 were completed online:

Table 1: Participants in the SMA Screening Survey (UK) By Gender

Table 2: Participants in the SMA Screening Survey (UK) by SMA Type

Overall:

  • More women than men completed the survey (75% were female Vs 25% male)
  • Just under half (49%) reported they were age 35-55 age bracket
  • Most were parents (82%)
  • Only a small proportion were currently pregnant, or currently trying to get pregnant (7.4%)
  • The majority reported having a religious faith (55%), with the most commonly reported religious faith being Christian (any denomination).
  • The sample was largely representative of the UK population in terms of ethnicity, with 81.9% reporting their ethnic group as ‘White British’
  • There was quite an even spread in terms of the Type of SMA affecting the family (see Table 2).

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.

Strengths and Weaknesses of the Imagining Futures Project

Strengths

A major strength of this study is that it is the first systematic analysis of the views of people affected by SMA in the UK in relation to the possibility of a national screening programme for SMA. Previous studies of attitudes towards SMA screening have all been very small (Wood et al., 2013), have not included the views of affected adults (Lawton et al., 2014), and have all been conducted outside of the UK. By accessing participants through various channels: SMA Support UK, the SMA Patient Registry as well as social networking sites and informal networks, this study was able to include a range of people with different experiences of, and relationships to, SMA. The survey was completely anonymous which might have facilitated honesty in reporting of attitudes. The survey was also developed directly from interviews with families living with SMA, meaning that their priorities and concerns were directly addressed within it.

Weaknesses

In order to protect the anonymity of participants, no identifiable data on participants was gathered by the survey. This meant that it was not possible to prevent a participant from completing the survey multiple times. One of the social networking sites approached to distribute the survey declined to do so, and this might have introduced bias to the results if the members of that social network share particular characteristics. Due to budget restrictions, the translation of the survey into multiple languages was not possible, therefore individuals unable to speak English were excluded from this study. Nothing can be known about those individuals who did not return their postal survey. Due to the very poor prognoses associated with SMA Types 0 and I, the adults with SMA who participated in the survey were largely affected with clinically milder forms of the disease (although two participating adults reported that they had a diagnosis of  SMA Type I). This will have impacted on how the adults with SMA who participated in this study experienced SMA and may, at least in part, explain the differences in perceptions of quality of life associated with SMA between adults with SMA and parents of babies who died of SMA Types 0 or I. The comparison to women from the general population was limited by the available data.

Comparison with Other Studies

Whilst support for screening amongst SMA families may be described as high (75%), when compared to similar studies, support for screening appears somewhat lower amongst SMA families and adults in the UK. Indeed the combined support for newborn screening amongst parents of children affected by Muscular Dystrophy/SMA in a study conducted in the U.S. was found to be 95.9% by Wood et al. (2013).

Table 6: Support for Genetic Screening: SMA Families Compared with Cystic Fibrosis Families (Maxwell et al., 2011)

The support was also lower when this study was compared to studies of conditions with very different presentations. Maxwell et al. (2011) for example, studied attitudes to pre-conception and prenatal screening for Cystic Fibrosis amongst affected families and adults in Australia, using a survey that was administered through the main support and advocacy group for families living with Cystic Fibrosis. Like responders to the SMA Screening Survey (UK), participants in Maxwell et al.’s (2011) study were asked to agree/disagree with the statement ‘I would support a prenatal/pre-conception screening programme for Cystic Fibrosis’. A comparison of Maxwell et al.’s findings with the findings of the Imagining Futures study are shown in Table 6. The generally lower levels of support amongst both family members and people with SMA towards the different screening programmes for SMA may be in part due to the high degree of variability of outlook associated with the different Types of SMA. Whilst Cystic Fibrosis may also be described as having a variable prognosis, SMA is characterised by its wide spectrum of severities, which could make screening more controversial amongst those living with it. Further research is needed to describe and explain the differences of attitudes towards screening amongst families and adults living with a range of different conditions, including those conditions which produce cognitive as well as physical symptoms.

Conclusions

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) 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.

 

References

Lawton, S., Hickerton, C., Archibald, A. et al. 2014. A mixed methods exploration of families' experiences of the diagnosis of childhood Spinal Muscular Atrophy. European Journal of Human Genetics, 1-6.

Lewando Hundt G, Sandall J, Spencer K. Heyman B, Williams C, Grellier R, Pitson L, Tsouroufli M. (2008) Women’s experiences 1st Trimester prenatal screening in a one stop clinic, British Journal Midwifery, Vol. 16, 3, pp 156 – 159.

Maxwell, S., Kyne, G., Molster, C. et al. 2011. Perceptions of population Cystic Fibrosis prenatal and preconception carrier screening among Individuals with Cystic Fibrosis and their family members. Genetic Testing and Molecular Biomarkers, 15 (3), 159-164.

Wood, M., Hughes, S., Hache, L. et al. 2013. Parental attitudes toward newborn screening for Duchenne/Becker Muscular Dystrophy and Spinal Muscular Atrophy. Muscle & Nerve, 49, 822-828.

Glossary

Demographic: demographic information is information that can be used to describe the characteristics of a population. Typically, demographic information includes: age, gender, social class, educational level and ethnicity.

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.

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