VASCERN Spotlights: Professor Claire Shovlin
I hope that across the diseases that VASCERN champions, the wisdom, dedication and experience of the medical doctors can be channeled into further, genuine healthcare improvements for patients and their families.
It is with great pleasure that we present this month’s member in the VASCERN Spotlight: Professor Claire Shovlin, Chair of our Hereditary Haemorrhagic Telangiectasia Working Group (HHT WG), from London, UK. Prof Shovlin describes the early experiences with HHT families that shaped her current research goals, the achievements of VASCERN (and the HHT WG) to date and what discoveries, that have changed the lives of HHT patients, she is most proud of.
1) What disease(s) do you specialize in and what interested you in this field?
I am best known for my work in the fields of hereditary haemorrhagic telangiectasia (HHT) and pulmonary arteriovenous malformations (AVMs), fields I have been working in, alongside other general and respiratory medical conditions, since 1992.
My initial interest in HHT and pulmonary AVMs was simply that in 1992, five years after qualifying as a medical doctor, I was looking for a PhD project that involved genetics (my first degree). Colleagues at the Hammersmith Hospital in London encouraged me to try to identify the HHT gene(s) that were waiting to be found in the families of patients who were coming to the hospital for pulmonary AVM treatments.
I did not expect this to be a long term direction – but two things changed this. The first was that as I travelled round the UK in 1992, visiting HHT families in their own homes to assess them and take blood for their genetic studies, I was really moved by the parents and grandparents sharing their family hopes and fears, expecting that medicine would now help. But I knew that would be difficult, because the families were breaking so many “rules” of medicine, and simply did not fit the questions being asked in medicine at the time. The second reason came from two sisters who I had just investigated to identify a different, very rare genetic disease. Usually it takes many years for genetic findings to translate to improvements in medical care, but for this family a treatment was already available, developed for newborn babies with the same condition. At first sight, it was an enormous success. But not for the family. In the UK we have a national health service, the NHS, and it simply could not afford to pay for the treatment that had to be given at a vastly increased dose for adult women. In addition, by 1998, I knew that my genetic studies in this family had directly led to one family member being denied a treatment opportunity that might have extended her life (referral for lung transplantation), because there was very limited clinical understanding of her condition. I was determined never again to allow any genetic research undertaken by me to proceed in advance of clinical understanding, and further, that any research that I did perform should be aimed at treatments that the NHS would be able to afford. By 1998, I realised that the HHT and pulmonary AVM families could be the first beneficiaries from such approaches, and I returned to the Hammersmith Hospital and Imperial College London to try to achieve this.
2) How did you become involved in VASCERN?
In HHT, we have been working together internationally for decades- I met so many of my current VASCERN colleagues in the 1990s when we worked together, for example, on establishing Diagnostic Criteria for HHT, and we have all continued to meet regularly over the years, collaborating as opportunities arose. We learned through Dr. Sophie Dupuis-Girod (HHT WG Co-Chair) of the ERN possibilities, and by the time the UK Rare Disease Advisory Group alerted me of the ERN applications, I was already firmly established within the HHT WG. I worked closely with Sophie, Prof. Elisabetta Buscarini (HHT WG Deputy Co-Chair) and our other colleagues to develop and deliver the VASCERN HHT WG.
3) What is your greatest hope for VASCERN?
VASCERN has brought together an extraordinarily experienced group of specialist doctors, coming from more than 10 different disciplines, working in areas that have not been the focus of national or specialist attention. Focusing on the clinical care of patients, rather than what might seem to be more attractive scientific research questions, VASCERN has already delivered more in a year and a half than other initiatives have achieved in 10-20 years. I hope that across the diseases that VASCERN champions, the wisdom, dedication and experience of the medical doctors can be channeled into further, genuine healthcare improvements for patients and their families. Currently, this is occurring because of goodwill by the specialist professionals and expert patients within VASCERN and the other ERNs, developing new tools and approaches for all healthcare systems to use. But my greatest hope is that somehow, VASCERN will change the fundamental landscape of how clinical care and clinical research is funded, leading to the establishing of a “home” and seat at the table for multisystemic rare vascular diseases within what is otherwise an organ or laboratory science-driven landscape.
4) What challenges do you face as a healthcare professional in the rare disease field?
The biggest problem is lack of recognition of importance at all levels – education, service provision and research. The conditions are not on medical school or specialty curriculae so doctors in training do not have an understanding of the unique recommendations for management when usual population-based guidance is not appropriate [1]. Individual hospitals serve local communities with too few patients to prioritise services locally- but at a national level, there are vast numbers of rare diseases, each requiring speciality care, and overall rare disease budgets are in competition with those for national establishment of services that individually will treat many more patients in the country. It is particularly difficult for multisystemic rare diseases, so for example we have had more chance to promote care for pulmonary AVMs from within respiratory medicine [2] than hereditary haemorrhagic telangiectasia which crosses multiple specialties so is championed by none. There are similar concerns for competitive research funding where it can be challenging to overcome the perception that the only beneficiaries will be a small number of individuals with the specific rare disease(s). This is why the European Reference Networks are so important and I congratulate the European Commission on prioritising rare disease care across Europe.
I am most proud of the work that has not resulted in acclaim, but genuinely helped people with HHT and PAVMs live more easily with their conditions.
5) What have you accomplished in your medical career that you are most proud of?
I have a glittering academic record from the 1990s – yet it did not help patients. I am most proud of the work that has not resulted in acclaim, but genuinely helped people with HHT and PAVMs live more easily with their conditions. The first was that there was no “bad “ HHT gene- what that meant to a desperately ill young adult who knew before she died that her children who had the same HHT gene were unlikely to be a sick as her, I cannot begin to say. Another was finding benefits of having HHT and pulmonary AVMs, which operate alongside the problems and make it easier for people to come to terms with their conditions. Another was, despite the challenging academic environment, persevering with research that is already reducing disease complications that people have. Finally, it is critical that we inspire and guide the next generation to use their skills to take key questions forward. I take great pride in the accomplishments of my former students, and am enormously proud of our first VASCERN HHT publication that provides a simple approach which helps all doctors to improve the health of someone with HHT.[3]
6) Are you currently involved in any research projects or clinical trials? If so can you please describe them briefly?
Most years I publish half a dozen papers on research that I have initiated by asking questions that matter to patients in ways that the NHS can afford to pay. By asking what the differences are in blood results, diet, exposures or existing treatments between people who do or do not have particular disease complications, we can immediately do a substantial amount to prevent those complications in the future. These studies offer opportunities to target the likely underlying mechanisms that cause the complications; to develop new methods of treatment for future patients; and enable us to begin to tailor particular treatment approaches to those who are most likely to benefit. This personalised approach is enhanced by examining variations in people’s DNA that can further help direct patients to routes most likely to improve their health and well-being.
I also initiate clinical trials, all of which are governed by the overriding principle that the risks of any treatment should be proportionate to the risks of the condition being treated. Very sick people will and should consider treatments which may carry significant side effects. I usually use the example of lung transplantation which saves so many lives – but would not be your choice for a headache that could be treated by paracetamol. Most people I look after have very good life expectancy, and are seeking to improve reasonably good quality lives. So I try to focus on treatments with appropriately low treatment risks.
VASCERN has had an extra added benefit of bringing together the expert clinicians and patients from different rare disease fields. In these face to face meetings that happen two or three times a year, it is a delight to realise that experiences or insights from the conditions we know, are helping to improve health for patients with diseases far beyond our personal and professional experience.
7) What VASCERN activities do you participate in and which are your favourite?
I chair the VASCERN HHT WG which has been the most rewarding activity in my medical career. The HHT specialists participating in the monthly teleconferences (and vast numbers of emails, Skype and phone calls in between), start from positions of huge respect for each other, understanding of shared difficulties, and appreciation of this extra time commitment on behalf of patients, fitted into the early mornings or at weekends, outside the day jobs. We all have our different strengths, and I am so grateful to have had the opportunity to work with such an extraordinary group of people. I really think we have already made a difference in HHT.
VASCERN has had an extra added benefit of bringing together the expert clinicians and patients from different rare disease fields. In these face to face meetings that happen two or three times a year, it is a delight to realise that experiences or insights from the conditions we know, are helping to improve health for patients with diseases far beyond our personal and professional experience.
8) What are the main achievements of VASCERN to date? What challenges does VASCERN still face?
I think I have outlined VASCERN’s main achievements above- bringing expert clinicians and patients together; improving recognition of the importance of the multisystemic rare vascular diseases; developing disease-specific tools to improve current healthcare; and offering the next generation of clinicians a more attractive option in which to specialize.
For VASCERN HHT, as detailed on our webpage [4], in our first year we delivered a Patient pathway; Priorities defined by 61 patients and professionals; a Drug Registry (publishing data on two drugs); five Outcome Measures and an accompanying guideline[3]; 13 Do’s and Don’ts for General Care; discussed 11 cross-border clinical cases; produced 8 research projects with more than one VASCERN HHT centre; produced two YouTube Videos (with more than 1500 views [5,6]), and delivered 2 Educational workshops (published 2017), all in addition to VASCERN HHT WG members’ existing activities with their own clinical centres and research teams.
While so much has been achieved already, the challenge will be to sustain activities by the still small number of experts in the respective rare disease fields. For example, we calculated that between initiation in 2016, and the end of our first year in February 2018, eight HHT clinical experts had together invested more than 650 unfunded hours to support VASCERN initiatives beyond their own hospitals. To sustain in the future, the next stages really do require formal acknowledgement, status and particularly funding to reach the centres that deliver expert care. Fortunately, we know that the Commission are fully aware of this issue, and are seeking solutions that we all await.
Further Reading:
[1] Shovlin CL, Gossage JR. Pulmonary arteriovenous malformations: evidence of physician under-education. ERJ Open Res. 2017 Apr 12;3(2). pii: 00104-2016. [2] Shovlin CL, Condliffe R, Donaldson JW, Kiely DG, Wort SJ. Pulmonary arteriovenous malformations emerge from the shadows. Thorax. 2017 Dec;72(12):1071-1073. [3] Shovlin CL, Buscarini E, Kjeldsen AD, Mager HJ, Sabba C, Droege F, Geisthoff U, Ugolini S, Dupuis-Girod S. European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT). Orphanet J Rare Dis. 2018 Aug 15;13(1):136 [4] The European Reference Network for Vascular Diseases (VASCERN) HHT WG [5] Shovlin CL. An Overview of Hereditary Haemorrhagic Telangiectasia. [6] Kjeldsen AD. What an ENT doctor needs to know about HHT and why.