December 05, 2017

The Ups of Downs photography exhibition launch

Ups of DownsToday the team attended the launch event of The Ups of Downs Photo Exhibition at Warwick Medical School. Established in 2006, and based in Leamington Spa, The Ups of Downs has been celebrating Down syndrome in Warwickshire and surrounding counties for the last 11 years and works with more than 60 families. Their vision is to help create a world where people with Down syndrome live their lives to the max as fully included, valued members of society.

The launch event had a number of speakers, including an introduction to The Ups of Downs charity from one of their members, and three speakers from Warwick Medical School talked about achieving balance, positive impact and positive expectations about children with intellectual disabilities, and involving patients, carers and services users in medical education.

The exhibition consists of twenty six beautiful photos of children with Downs playing, dressing up and having fun - sixteen are on the ground floor and ten are on the first floor. It aims to showcase the uniqueness of each child, encouraging and enabling viewers to see past the diagnosis and to value each child’s individual skills and interests. The exhibition will stay at Warwick Medical School atrium for the next year.

November 14, 2017

University of Warwick Public Engagement Network Conference

Public engagement brings a host of benefits – to universities, to their staff and students, and to the wider public. Despite enthusiasm for engaging with the public, there is evidence that many staff and students in universities are not well supported or encouraged to work in this way. The University of Warwick is committed to helping all staff and students talk with the public about their research, and supporting the whole university to become a welcoming destination for the community to make use of our excellent facilities and enjoy time on campus.

On Wednesday 8 November, the team attended the University of Warwick’s Public Engagement Network Conference. It was a day of interactive discussion and networking with colleagues from across Warwick. We heard from a senior leader (Professor Simon Swain) about his vision for Warwick's future as an Engaged University, and Warwick's Public Engagement Team introduced what we do and how they're structured. In return, they heard from us about what we need from a Public Engagement Team, and explored the intersection between public engagement and Impact.

We then had a presentation on ‘Planning for Engagement: The Story of MILESTONE’ - MILESTONE is an EU funded multi-national project exploring the drop off between children and adult mental health service provision. They have been engaging with young advisors throughout the project, and are now planning their public engagement strategy for the remainder of the project. Dr Helena Tuomainen, Scientific Research Manager for MILESTONE, talked about how they've benefitted from planning early on for engagement.

This was followed by a Pecha Kucha: ‘Why Engage - four stories of Public Engagement and what motivates our speakers to do it’ - they spoke to us in a quick fire format with just 6 minutes 40 seconds of pre-timed slides to get their point across. This Pecha Kucha style is a great way of doing some light touch public engagement in a fun and entertaining way - Coventry has a regular Pecha Kucha Night you could join in on. The speakers were: Mark Hinton - Working with Communities; Nicholas Jackson - Engaging mathematics at Science Fiction conventions; Kevin Moffat - Science Communication with Jelly Babies; Sophie Greenway - History of medicine - Digging with Dirt.

After lunch we heard from Wellcome Trust Engagement Fellow, Honorary Fellow of the British Science Association, and self-described "Geek Comedian", Dr Steve Cross. He joined us for a bit of stand-up comedy helping us see the funny side of engagement and our journey into it. Then Steve Cross was in conversation with Professor Hilary Marland and Flo Swann from the Centre for the History of Medicine and Professor Mathew Thomson, Wellcome Trust Senior Investigator for Cultural History of the NHS project, along with Dr Jennifer Crane, Public Engagement Research Fellow, to discuss their projects and how public engagement is involved.

The Impact Team provided an overview of ‘Understanding Impact and Public Engagement’. This was followed by Lewis Dean, Public Engagement with Research Policy Manager at RCUK who joined us to share the perspective of the research councils on all things public engagement and impact. Finally, there was an interactive session ‘Breaking down barriers to engagement’ which aimed to understand what's stopping you or your colleagues from doing public engagement, and to identify solutions - be they a quick fix or a long term battle the PE team should be taking on.

October 02, 2017

Fragile X Family Weekend Conference

On September 23rd, the team attended the Fragile X Family Weekend Conference at the Thomley Centre near Oxford. We were there in order to recruit families with experience of Fragile X to take part in our pre-conception genetic screening study interviews. We would like to thank the Fragile X Society for allowing us to do this and for their warm hospitality. The event was very successful for us, we interviewed two families at the conference and are in the process of arranging several more interviews. Please contact if you are interested in taking part in the study. Several other research groups also attended the conference, including the Cerebra Centre at the University of Birmingham, who are recruiting parents and carers of girls aged 16 and under with a diagnosis of FXS to complete an online survey.

It was a departure from the Fragile X Society’s usual style of conference. Their aim was to provide an all-inclusive family event, where along with talks and workshops, the families had time to meet other families and enjoy the facilities at Thomley, which is a dedicated place for people of all abilities and disabilities with experienced and nurturing staff that understand their needs. They support people at any stage of their diagnostic journey, whatever their additional needs. The facilities at Thomley include free use of bicycles (for all abilities), swings for all levels (including wheelchair users), wooden fort, zip wire, trampoline, newly refurbished sensory room, soft play area, toy room, teenagers room and a gym.

In addition to the usual facilities at Thomley, the Fragile X Society arranged fun activities for all ages and abilities, including Lionel the Train (from the Lions Club), song time sessions, bubble stations, arts and crafts, face painting and sports, including football, cricket and archery. On Saturday there was a barbecue in the evening, which gave the families the time to unwind, relax and socialise. An AGM/Celebration of the Year also took place on Saturday.

There were several informative talks given over the two days. Dr Jane Waite (Research Fellow and Clinical Psychologist, University of Birmingham) looked at ‘Behaviours that challenge’. Dr Hayley Crawford (Research Associate, Centre for Research in Psychology, Behaviour & Achievement, Coventry University) covered her recent work on anxiety by giving an overview of her research in this area and looked at some of the strategies listed in the Cerebra Anxiety Guide. Dr Sarah White (Royal Society Dorothy Hodgkin Research Fellow, University College London) talked about the work that she and Jo Moss have conducted on behavioural and emotional traits in mothers/non-mothers with the Fragile X permutation. Dr Sissy Stefanidou (Postdoctoral Research Fellow, University of Birmingham) presented some of her latest findings using EEG to investigate social attention in Fragile X Syndrome.

There were also a number of workshops run for the families. Jennifer Joan Stenhouse provided a workshop on mindfulness for parents, which is a simple and effective way to de-stress, relax and improve your ability to deal with life’s challenges, using techniques which you can practice anytime and anywhere. ‘Home From Home Care’ provided transitioning into adulthood advice. The ‘Sensory Bus’ was on site all weekend to give families the opportunity to experience what people with Fragile X feel every day and to step into their world. ‘Ollie Coaches’ support families and children – ‘Ollie & His Superpowers’ is a simplistic but powerful way for us all to understand why we feel what we feel, and that no one can make us think or feel anything we don’t allow ourselves to. ‘Sinclairs Law’ provided a legal advice clinic, for families who have legal concerns and provided advice on the best course of action for their situation.

The families seemed to have a lovely time at the Fragile X Weekend and it was very rewarding for the team to be able to see the children enjoying themselves and to take part in such a great event.

July 04, 2017

Birth through the prism of disability conference – Part 2

Marie Gaille’s presentation ‘On prenatal diagnosis and the decision to continue or terminate a pregnancy for fetal anomaly’, reported on interviews with health professionals and 28 (5 women, 23 couples). From the 28 pregnancies, the patients perceived 9 of the conditions diagnosed to be lethal and 19 to be non-lethal (including 7 serious, 6 non-serious and 6 Down Syndrome) - only 4 of the 28 pregnancies were continued. The study found two main motives for termination: Personal balance and quality of life of the child. Marie proposed that we are not rational individuals but are within a network (within a family, other children) and this affects our capacity to face a situation. The quality of life of the child was perceived to be whole life span, particularly when the parents have died. In addition, the study found that religion and social stigmatisation – the shame of carrying disabled child in France – are also important.

Caroline Lafarge’s presentation When an anomaly is diagnosed at birth’ looked at the key aspects of nine women’s experiences of this using an Interpretative Phenomenological Approach (IPA). The study revealed five main themes: (1) an internal earthquake - sometimes there was relief when a diagnosis was made but there was still a complete change in a woman’s identity – becoming mother and carer, or from pregnant to woman without a child; (2) entering the world of disability - will have a lot of medical appointments and strong link with child; (3) action as an antidote to helplessness – women focus on the present and positivity, they look for support (family, groups, HCPs), and want a life as normal as possible (e.g. go back to work); (4) ambivalent and complex relations to health professionals; and, (5) a new narrative – different family to how they thought it would be.

Helen Statham’s presentation ‘Can we ask difficult questions at difficult times?’ considered parents’ real-time decision making about whether or not to have a post-mortem after late miscarriage, stillbirth or termination; and reflected on the limits of research questions in an era of increased openness about emotions and wellbeing. Helen proposed that this remains an area that is very difficult to research, and is usually retrospective, which can lead to cognitive dissonance and post rationalisation from participants. The research team reported that their experience with local R&D was challenging. They gave some helpful comments – separation between clinical practice and research, amend information sheet and ensure support available. Less helpful was the suggestion to – use interviews (even though peer review said survey questionnaires were the best method because they are less intrusive. She highlighted that research ethics committees have a responsibility to ensure research does not cause distress but must be balanced so that it doesn’t prohibit people from speaking about different experiences if they wish to do so.

Helen’s study identified three themes: Importance of medical research done sensitively/respectful manner; Altruism – helping others and a positive experience from a negative experience; helpful to participants.

Clarisse Beauvois’s presentation was about ‘La petite Emilie’, a support group formed in 2003 by parents and professional to give support at a local and national level for couples facing pregnancy termination for fetal anomaly and perinatal grief. It is specifically interested in the grieving situation and various state services and what can be done in a religious/spiritual manner. It has a website, leaflet & webmail box, awareness raising and training modules. Clarisse proposed that with quality support people should be able to express their grief and go onto future pregnancy if they want to or try to find happiness elsewhere.

Felicity Boardman’s presentation ‘The role of experiential knowledge in prenatal testing decisions: the experiences of families living with Spinal Muscular Atrophy’, reported that experiential knowledge of disabled people (a highly politicized form of knowledge) has been less explored than that of pregnant women. Felicity highlighted that with Spinal Muscular Atrophy, there is a lot of diagnostic overlap and uncertainty. She proposed that while experiential knowledge is pivotal in framing imagined reproductive outcomes for families affected by genetic disease, it can also be unreliable and limiting. Felicity asked how could the experiential knowledge of over 200 conditions be integrated into prenatal care as technology advances to identify these conditions before and after conception.

Aviad Raz’s presentation ‘Prenatal diagnosis and disability rights: the more it changes, the more it remains the same?’ focused on Down Syndrome to consider the disability rights critique of prenatal screening in the context of different communities, disability advocacy/support groups and informed choice. He highlights that while Down Syndrome screening has been criticized because of the incomplete and unbalanced information accompanying the screening, such criticism is not universal but instead depends on a Western-liberal discourse. Aviad exemplifies this with the case of Israel, where disability advocates express support of preventive genetic testing during pregnancy, alongside support of the care of disabled persons are birth. He warns that the repeated manifestations of the disability rights critique of prenatal screening ‘should alert us to the surrounding social context concerning how society supports and/or discriminates against disability, and how knowledge and perceptions of social context affects parental decisions about prenatal diagnosis. Separating these contexts is a taken-for-granted norm – e.g., the separation of medical and social panels in conferences, or the separation between the medical information (that dominates genetic counseling) and social welfare regarding disability’.

Thierry Zoumara’s presentationDown’s syndrome prenatal diagnosis or the disappearance of the ideal child: between social divide, otherness, resilience and citizenship’ reported on the work Trisomie 21 France, which is committed to the defense of people with Down Syndrome to equal rights in an inclusive society and for access for all to the common law. He highlighted that a lack of support does not enable parents to prepare for the birth of a child with Down Syndrome. Thierry proposed that for children with Down Syndrome schooling is complex, that the condition affects whole family and constitutes a marker around child. He reported Trisomie 21 has built many tools (medical, social, educational) to help families become autonomous citizens and for practitioners and other people who work with DS patients. Thierry argued that prenatal diagnosis can be a tool but the critique from parents is that it is not a solution; and that educational and medical support are separate – but these mechanisms must work together.

Anne Evrard’s presentation‘Non invasive prenatal testing: reflections inspired by discussions on a public forum’ reported on her activism on the forum for the last ten years - giving women control, reliable information and additional support because women are insufficiently prepared and access is to NIPT is unfair in the consumer market. She reported that the forum had to do the most work explaining that NIPT is still a screening test and not a diagnostic test. Anne highlighted that NIPT is a source of panic to some women, particularly Muslim women who are dealing with new issues because they have to wait for NIPT.

Olivier Scemama’s presentationThe role of the social, ethical and organisational dimensions in the HAS recommendation on using cell free fetal DNA in maternal circulation for Down's syndrome screening’ reported the results of a metanalysis of literature on the performance of new tests for Down Syndrome. They looked at 75 studies, 28 of which were social preference studies. Oliver reported that a pivotal result of their analysis was that not all high-risk women want Down Syndrome testing. They compared practitioners and patients and found that: globally the attitude is very positive but very variable – ambivalent, and they can prioritise different elements of test; there is a higher preference for DNA tests in hypothetical situations; high-risk women prefer karyotyping. There were no studies about risk threshold. Oliver’s study also reported on ethical aspects of screening. They found that NIPT can lead to: delay of screening; an increase in the detection rate; a decrease in foetal losses; the risk population would be widened and intermediary risk group created; access to information; acceptance of persons with Down Syndrome; and, a financial impact due to the cost of the test. Oliver proposed that NIPT poses original problems in equity of access to screening, information, training, support and counselling, and in the management and storage of data. His study recommended that NIPT implementation should consider access, support, information, delivery of results, time to analyse/reflect on results, training of HCPs, and follow up assessment of impact of test.

Isabelle Ville’s presentation ‘Practitioner’s attitudes towards the risk of fetal anomaly in France. When regulation goes hand-in-hand with professional autonomy’ compared the activities of multidisciplinary prenatal diagnostic centres (CPDPNs) in France. The study found that ‘the homogeneity of practices described in official discourses exists in appearance only, there being major variations from one centre to another in the number of authorisations for pregnancy due to foetal malformation. Rooted in singular local history, these differences relate to methods of organisation, to the ways in which deliberations and decision-making take place and to varying levels of tolerance towards the risk of disability; they show that the regulation of practices allow foetal medicine practitioners a certain amount of autonomy that is collective rather than individual and which is reflected in the centres’ “identities”’.

Birth through the prism of disability conference – Part 1

On the 8th and 9th of June the team attended a conference in Paris, with the translated English title: ‘Birth through the prism of disability - Historical, contemporary and comparative perspectives relating to the practices and experiences of prenatal diagnosis’. Details of Felicity’s presentation from her SMA study are given below.

The conference brought together ‘the perspectives of researchers, professionals and support group representatives to gain insights into the way technological developments, public policy and professional norms impact upon the practices of prenatal diagnosis and individuals’ experiences’.

Prenatal diagnosis practices and experiences were examined from different perspectives: ‘first, in the light of the globalisation of technical innovation and the circulation of skills and knowledge, and how these impact upon local care provision; second, through the requirements of evidence-based medicine, the democratisation of health and growing legal accountability of clinicians and how these influence professional practice. A strong emphasis was put on the experiences of women and couples who are faced with difficult decisions (often surrounded by uncertainty) and in particular on their cognitive, moral and emotional experiences. Finally, the way biomedical or clinical markers are extrapolated into future experience of disability were explored as well as what prenatal diagnosis practices reveal about perceptions of disability experience’.

The knowledge and experiences shared during this conference provided ‘insights into the way the tensions between normative scientific and ethical expectations, on the one hand and the organisational constraints on the other hand, reshape the relationship of care in clinical practices; the aim being to broaden social debate, still currently limited to medical, scientific and administrative experts’.

The conference began with an introduction by Isabelle Ville. She reported that there is not enough discussion about prenatal diagnosis in France, and what discussion there is, is all between experts and focuses on technical aspects. There is not much discussion about prenatal diagnosis from an individual or social point of view; Public Health and prevention of disability is still the priority.

Historian, Ilana Löwy, talked about the history of birth defects and the long history of trying to anticipate and diagnosis prenatally using visualizing technologies. She reported that people used to have to rely on pedigree of partner’s family until x-rays were used to visualise foetuses in the 1940s. Amniocentesis was introduced in the 1950s and during this decade the negative impact of x-rays on the foetus was realised. Prenatal diagnostic technology became widespread from the end of the 1960s, when the culture of foetal cells was introduced. The late 1960s and early 1970s saw the decriminalisation of abortion in many countries and abortion was a social innovation, as well as medical innovation, in the 1970s and 1980s. This was followed by, between 1970 to 1980, the gradual extension of the use of prenatal diagnosis for the detection of hereditary diseases and aneuploidies – especially Trisomy 21. The mid 1980s saw the introduction of serum tests for those with increased risk of foetal anomalies. With the development, of new tools and technologies, ultrasound became main tool of diagnosing foetal anomalies. The driving test of prenatal screening was detection of Down Syndrome (screening for this was seen as unproblematic). The rising life expectancy of people with Down Syndrome was viewed as a Public Health problem, with the only solution, screening all women (not only older ones). Ilana reported a switch from diagnosis of a small number of hereditary conditions to the testing of all pregnant women. The risk number increased and there was a transformation of pregnant women into rational managers of foetal risks, with prenatal diagnosis becoming the “standard of care” in many settings in the majority of industrialised countries but there are important local variations in use.

The “Risk of disability” became a private management of a public health problem of disabled children and adults. Ilana outlined that some tests only offer a diagnosis of ‘risk’, not of a condition, and that studying gene deletions has increased the level of uncertainty dramatically because the wide variety of effects, even among same family, means termination decisions are extremely difficult decision to make.

She also reported that non-invasive prenatal testing (NIPT) is being implemented massively in the UK and is complicated by the private market where recommendations cannot be enforced. In the US, there are even more dilemmas for women because they can choose what they test for. In Brazil, the market is very active and NIPT is proposed in private clinics – to have peace of mind – to encourage women to have comprehensive testing.

Finally, Ilana pondered whether in the future we will be lost in a torrent of data and information.

Louise Bryant’s presentation, ‘It’s not just about the info: facilitating informed decision making for women offered prenatal testing’, suggested that the immediate social context of the encounter between midwife and pregnant woman may have significant impact on screening uptake; for example, the ambiance of the clinical environment, the medicalised setting, asymmetric power relationships and knowledge, and trust in health professionals. She also considered how the language and structure of the conversation between the health professional and the woman may play a significant role in the decision that is made about prenatal testing. Louise emphasised that facts are not neutral and that information is emotion laden, which means that while informed consent is lovely in theory, it is very difficult to achieve in practice. She proposed several actions to managing the conversational ‘racetrack’ and new training about NIPT for midwives in order to make informed consent more realistic.

Lisa Crowe considered ‘Directive and non-directive counselling after a diagnosis of foetal anomaly’ and found that non-directive counselling is a very difficult achievement, and, in fact, may not be possible. In addition, health professionals may not view directive counselling as the opposite of non-directive counselling. Furthermore, parents do not always think the non-directive is appropriate. Lisa proposed that more research to define the gap between directive and non-directive counselling is needed and that medical guidelines need to recognise the spectrum in directedness of counselling, and in the needs and wants of parents.

Carine Vassy’s presentation, ‘From policy making to service use – DS antenatal screening in England, France and the Netherlands’, looked at the variation in prenatal screening rates for Down Syndrome in England, France and the Netherlands. National uptake rates for screening test in 2013 were 87% in France, 61% in England 61% and 27% in the Netherlands 27%. Carine proposed that this situation is a little odd, given that the ethical framework is similar in all three countries and that policies have converged. Her study revealed that the main factors for these differences are the sociotechnical settings (i.e. the features of the local health system and of the national screening programme) which affect the interactions in consultations and thus screening decisons. In France, pregnancy has been strongly medicalized for a long time, there is a focus on risk assessment, some compulsory screening tests, little information on Down Syndrome screening and some directive communication. In contrast, there is non-directive counselling in England and the Netherlands, and fewer women are considered to be at risk and therefore offered amniocentesis. Carine reported that there is little time for practitioners to talk – England 60 minutes (4.49 minutes about screening), France 30 minutes (3.09 minutes), Netherlands 60 minutes (6.35 minutes) - and little time for French patients to read the informed consent form which the health professional needs to be signed during that consultation (there is no such obligation in England and the Netherlands). Carine concluded by asking what will change with NIPT and the guidelines of the National Authority for Health. She highlighted that in France there is no funding for training – no change and no change to duration of consultation – and that the French Health Authority recommends that the risk threshold be lowered to 1-1000. As a result, 30,000 more pregnant women will be placed in high risk category and offered amniocentesis with full karyotyping.

Marc Dommergues’ presentation Prenatal diagnosis, how to manage uncertainty’, proposed that there is uncertainty at every level of screening, both official and parental. Furthermore, there is still uncertainty if disease is diagnosed. Therefore, there are different stages and levels of uncertainty.

April 28, 2017

Nuffield foundation on bioethics report blogpost

On February 29th, Felicity and I attended the launch of the Nuffield Council on Bioethics report on non-invasive pre-natal testing (NIPT): ethical issues. The event was held in the beautiful State Rooms, at Speaker’s House, in the House of Commons, by kind permission of Mr Speaker, The Rt. Hon John Bercow MP.

The launch began with a welcome and introduction from Hugh Whittall, Director, Nuffield Council on Bioethics. This was followed by the presentation of the report findings, conclusions and recommendations by Tom Shakespeare (Chair of the Working Group, member of the Nuffield Council on Bioethics and Professor of Disability Research, Norwich Medical School, University of East Anglia). Prof. Shakespeare proposed that the significance of NIPT is very different for different people and that people also have a right not to know things about your genome. He emphasised that the information about NIPT has to be as good as the science and that autonomous choice for women has to include balanced information about the lives of current affected people. Prof. Shakespeare highlighted that the UK already screens for some disorders, and then pregnant women are referred for invasive diagnostic testing if risk is high. He proposed that NIPT will reduce miscarriages due to invasive testing but may also lead to more terminations for Down Syndrome and trisonomies. Prof. Shakespeare emphasised that women and men should feel confident that they will be supported if they continue the pregnancy. He proposed that it is still an individual choice whether to continue with a pregnancy and does not think that it’s eugenics as long as we get the messages right. While proposing that NIPT should not be offered to all women but maybe the high risk population, he was also concerned that this could lead to more false negatives, more invasive testing and miscarriages. Prof. Shakespeare reported confidence that clinical genetics works effectively in the UK but that the private sector is lightly regulated, their advertising can be misleading, and that patients probably come back to the state sector for interpretation and support. He also expressed concern that NIPT could be used at early stage to detect sex and lead to sex selective terminations. Prof. Shakespeare proposed that the UK should not break the international consensus that NIPT should not be offered for sex selection, and less serious, non-medical selection. Furthermore, he argued that while it may seem natural to test more and do whole genome sequencing, at this stage we do not have enough information or knowledge about whole genome testing, and that WGS can be a ‘fishing expedition’. Prof. Shakespeare claimed that the Government should talk to manufacturers about whether NIPT is appropriate and that NIPT is a game changer, but it has to be seen in the context of being supportive to disabled people.

Then followed a Q&A session and discussion with members of the Working Group: Louise Bryant Associate Professor in Medical Psychology, University of Leeds; Tara Clancy, Consultant Registered Genetic Counsellor and Honorary Senior Lecturer, Manchester Centre for Genomic Medicine; Angus Clarke, Clinical Professor, Institute of Cancer & Genetics, Cardiff University; Zuzana Deans, Teaching Fellow in Medical Ethics, School of Social and Community Medicine, University of Bristol; Shaun Pattinson, Professor of Medical Law and Ethics, Durham University; and Clare Walker, Academic Clinical Fellow in Public Health.

The first person to join the discussion was the Director of Programmes for the UK National Screening Committee (NSC),Anne Mackie. Anne reported that the NSC is ‘genuinely agnostic’ about NIPT, that they ‘want to offer people choices’ and are ‘committed to principle of education and training for staff and working with families to develop information’ to provide informed choice in the NHS that is as good as possibly can be.

Next to speak was Sally Phillips the actor, activist and mother of a son who has Down Syndrome. Sally emphasised the value and positive aspects of people’s lives who have Down Syndrome. While Sally said that she welcomed the report and was grateful for it, she also proposed that NIPT ethics is ‘a can of worms’ and that it is ‘impossible to get all worms back in can’. Sally also put forward that there is a lack of due ethical process in screening and that with the arrival of these new technologies hate crimes are rising and that culture needs to change so that babies with Down Syndrome should be welcomed by society; but, that it is ‘hard to pull things back in’, such as Down Syndrome screening. Sally argued that centrism is not the answer to these issues, that there is no reasonable middle path because of the amount of discrimination and the rational devaluation of ‘our’ [disabled peoples’] lives. She claimed that state sponsored detection of Down Syndrome endorses discrimination and passive eugenics, and that it is easier to get rid of screening than to change society. Sally highlighted that gender and disability are both protected characteristics in law and questioned whether it is valid to distinguish between disabilities. Furthermore, Sally reported that Down Syndrome is not a medical condition but a genetic one with variable traits.

It was heart-warming to hear the contributions to the debate from people with Down Syndrome, including a woman with Mosaic Down Syndrome who spoke very eloquently about her experience of the condition. They all expressed concern that with the introduction of NIPT their lives are not valued as much as other people’s and that more babies with Down Syndrome will be aborted.

A pregnant woman, who had experienced the loss of a disabled baby during a previous pregnancy, spoke movingly about the value of all human life and the positive experience she had during her previous pregnancy.

Then, Prof. Tom Shakespeare responded to the comments from the previous speakers. He proposed that other families do not want these conditions, that it’s hard to hear but they have to be able to make that choice. He also highlighted that people are not their genetic spelling mistakes. Prof. Shakespeare also claimed that testing for Down Syndrome at 10 weeks could be a reason for getting rid of late terminations for Down Syndrome, and that, if there is an additional layer of screening after testing, it may delay termination.

It was thought provoking and, at times, touching to listen to so many different points of views and experiences. It is important that this diversity continues in future debates about pre-natal testing and pre-conception screening.

Introducing a new study and new colleague

In February, I started work on a new study, funded by the Wellcome Trust for three years, looking at the social and ethical implications of pre-conception genetic screening for several somatic conditions being rolled out to the general public.

I would like to introduce Dr. Rachel Hale, who has started working with me on the study. Rachel is a sociologist who has worked as a researcher for several years and has experience of interviewing people with genetic conditions.

We are currently recruiting participants (or family members living with people) with Cystic Fibrosis, Fragile X, haemophilia and thalassemia for an individual or joint interview. Please contact us on, if you are interested in taking part or would like more information about the study.

The results from this study will be compared with my previous research on SMA.

We will shortly be updating our web pages with more information about the conditions that we are looking at in this new study.

January 23, 2014

Fieldwork, data analysis and the messiness of research

As I read articles from the literature around genetic screening and prenatal testing for different conditions, and the way in which the information dervied from such processes is used by individuals, and I prepare my thoughts for my own paper on the topic, I am reminded of how much the process of writing a research paper is a santising process.

Research is, by its nature, inherently messy. We start off (usually) with an idea of what we are interested in and (hopefully) a sense if why it is interesting, maybe we have a hypothesis, maybe we just want to get inside a topic and explore. However, I am always surprised from this very neat outset of a research project just how quickly things become....well, messy. How new questions emerge, how exploring topic A really means we should also have a good understanding of topic B, C and D if we are to get a full picture of what it is we want to know, and how what we think we know is only actually so very partial and incomplete, even though we would like to talk about it in terms of a concrete research finding.

There is no 'messier' part of research, in my view, than fieldwork. Fieldwork, in my area of research, involves people, and for that reason, it is invariably unpredictable, subject to sudden changes (the last minute cancellation of an interview, the emergence of new participants) and full of surprises! People are complex, multi-faceted beings, and even when I have interviewed a participant before, I never really know what I am going into when I re-interview, particularly on a subject so sensitive and personal as the one on which the Imagining Futures Project is based. I have been taken by surprise this time around by just how different this round of interviews has been from the first. A lot of people are in entirley different places than they were 6/7 years ago, with new thoughts along with those changing experiences, and different attitudes.

As I try to analyse and capture some of these thoughts and experiences under qualitative thematic codes I realise how much 'tidying' I am doing. One of the end products will (hopefully!) be an academic research paper, divided into neat sub-headings, highlighting a nice linear research process whereby I looked in the literature, gathered data, analysed and then came to some 'conclusions' about what I have found. That goal seems a far cry away from the seeming chaos I have in my dataset- the outpourings of thoughts, recollections and emotions, onto which I feel as though I am trying to impose some bigger framework, a framework that 'makes sense' of it all, that 'unpacks' it in light of the literature, in light of academic concepts and other, situational data.

However, I cannot help but wonder whether by doing this we lose some of the essece of that very thing we were trying to study in the first place. As much as we would perhaps sometimes like it to, life isn't lived in a linear way under sub-headings, and complex decision-making processes are often more complex, multi-faceted and fluid than I feel I could ever accurately capture in a paper. Indeed, even through talking to an interviewer, participants tidy up their own accounts as they go, trying to rationalise where perhaps there was no previous rationality- just emotion, or perhaps even, instinct.

And so I carry on with my pursuit of producing a research paper at the end of all of this, although, I increasing feel that the 'real' data are possibly that which we can never really hope to have- those 'internal landscapes' of participants that we cannot ever really access, but which, at best, I can hope to present my tiny sanitised segment, buy maybe that is as good as it gets.

Watch this space.

December 20, 2013

The Results Are In– So What's The News?

I had just begun the first full day of my Christmas holiday when a message dropped into my email inbox that, I decided, was simply too important to be left on the back burner until I return to work in the New Year.

Somewhat unexpectedly, the National Screening Committee has returned a verdict on their recommendations regarding antenatal screening for Spinal Muscular Atrophy, following a national consultation which began in May of this year and was scheduled to conclude in May 2014.

As for all NSC policy reviews (usually held every three years), the national consultation involved key stakeholder organisations responding to an expert evaluation of screening for Spinal Muscular Atrophy and submitting comments to the NSC committee for deliberation. In this particular consultation, the expert review was compiled by Sally Cartwright, and the responding stakeholders included the Jennifer Trust for SMA, The British Society for Human Genetics, the Muscular Dystrophy Campaign, the Royal College of Paediatrics and Child Health, the SMA Trust, as well as myself.

The results will unfortunately come as a disappointment to some families and individuals living with Spinal Muscular Atrophy, and particularly those who have been campaigning hard for screening to be introduced free of charge in the UK. Indeed, pre-conception and antenatal screening tests for Spinal Muscular Atrophy, whilst available in the UK, can only be accessed via private genetics companies such as who charge between £150 (for an individual SMA screen) and £220 (for a couple screen) for this service.

On the opposite side of the debate however, for other people living with SMA, the verdict that screening has not been recommended at this time will come as welcome news. Indeed, the question of screening appears to be a highly divisive one for families and individuals affected by SMA; it is a topic that can dramatically polarise opinion and about which many people feel passionately, whichever side of the argument they are on. However, in-between these polarisations, there has also emerged a large grey area of thought- accommodating those unable to adequately justify their standpoint as either pro-, or anti-, screening. Indeed, there is no unified viewpoint on screening for SMA amongst those living directly with it, and opinions vary widely both within, and between, families.

In many ways, this lack of consensus is unsurprising- the topic is controversial precisely because Spinal Muscular Atrophy is a condition these families know intimately, either through having SMA themselves, or through their relative(s). Considering an antenatal screening programme for SMA therefore, raises topics that, for many people, are simply uncomfortable. The possibility of the selective termination of foetuses with a prenatal diagnosis of SMA, for example, and the concamitant appraisals of the value and quality of a life affected by SMA, have been identified as key areas of concern by families living with the condition, and even more so as the introduction of population-based screening for SMA would necessitate the extension of these issues and decisions beyond the 'SMA community' and into the realm of the general public, for whom SMA will likely be an unheard of condition, rather than an everyday reality.

Whereever a person situates themselves in the SMA screening debate, however, serious consideration needs to be given to both the quality (and quantity) of research evidence surrounding the viability and appropriateness of a screening programme for SMA, and, just as crucially, the technologies used to perform the screening tests must be accurate, cost-effective to implement and reliable. It is in these areas that a potential screening programme for SMA appears to fall foul of the criteria set out by the NSC in order to justify the implementation of a national screening programme. There is simply not enough known about the number of people affected by the different Types of SMA in the UK, and the technologies are currently unable to precisely differentiate between the severities, which could pose huge personal, social and ethical dilemmas for would-be parents faced with the decision of how to proceed following a prenatal diagnosis of SMA.

The policy on SMA screening is due to be reviewed again in three years' time, and it is currently unknown whether/how the landscape of this screening debate may alter and evolve over this time. However, until then, the results of this consultation give us plenty of food for thought and a chance to reflect on the key issues being grappled with- on both sides of this debate.

For further information about the NSC's decision please click here.


December 17, 2013

Learning More About Health Screening At Warwick Medical School

I was recently given the opportunity to sit in on the Health Screening Module at Warwick Medical School, which is run in conjunction with the National Screening Committee. Indeed, some of the presenters were members of the NSC, including the director, Anne Mackie, and the person who set up the first UK genetic screening programme (a linked antenatal and newborn screening programme for Sickle Cell Anaemia and Thalassaemia), Dr. Allison Streetly, who was awarded an OBE in 2011 on account of her work in this area.

The course is a five day intensive course mainly aimed at health care professionals and clinicians involved in delivering screening programmes, covering a range of issues relating to screening, including the more technical issues (such as test sensitivity), as well the ethical and social implications of health screening.

Attending the course heightened my understanding of the processes behind the development of screening programmes, but also how often these processes become fraught with underlying social and political tensions, between politicians, patient groups and charities as well as other stake holders who all have (often competing) agendas with regards to the setting up, or otherwise, of a screening programme.

The ethics of screening is complicated. Issues such as resource allocation and prioritization move beyond the individual level that we are so used to thinking at, and require us to think at the societal level of what will benefit the most people, raising issues of equity and fairness.

The fear of stigmatizing those who are screened must also be considered- particularly for health conditions considered to be particularly sensitive or tabboo, such as screening for sexually transmitted disease.

Arguably, screening programmes that can affect reproductive choices and outcomes are the most fraught ethically, and it is this type of screening programme on which my own research centres. How far antenatal, or pre-conception screening facilitate truly informed choice is difficult to measure, particularly in a social context where screening tests become routinised and health care professionals are performance managed against nationally agreed targets of screening uptake. The kinds of decisions people are left with after undergoing screening, and the impact the information has on them, raises particular ethical concerns, particularly in relation to conditions such as Spinal Muscular Atrophy where effective treatment of the condition is yet to be identified and the screening tests themselves are unable as yet to accurately predict the severity of the condition.

I was left with a quotation by Lawrence Gostin (provided by Allison Streetly) that has stayed with me, and which eloquently summarises some of these dilemmas:

"Screening is far from a neutral scientific pursuit. Rather, screening is political....fraught with complex choices and weighing values- cost, efficiency, autonomy and justice."

Screening for a condition such as Spinal Muscular Atrophy appears to be a case in point.

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