Glasgow Epilepsy Genetics Service
The final item of business is a members’ business debate on motion S4M-02485, in the name of Kenneth Gibson, on Glasgow epilepsy genetics service. The debate will be concluded without any question being put.
Motion debated,
That the Parliament congratulates what it considers the outstanding work undertaken by the Glasgow Epilepsy Genetics Service, which was established in the Duncan Guthrie Institute of Medical Genetics at RHSC Yorkhill in 2005 with support from the Muir Maxwell Trust; commends Yorkhill for being the principal testing centre for the UK and several other countries; understands that 2,500 individuals have already benefited from a growing number of investigations, currently across six genes, leading to a genetic diagnosis of epilepsy; notes that his work aims to help individuals and families understand the cause of their own or their child’s epilepsy, save unnecessary tests and that it may change clinical management and improve outcomes; applauds this NHS National Services Division-funded service while welcoming further plans to offer a comprehensive genetic panel of epilepsy genes from mid 2012, earlier testing for children and adults, and a Scottish Paediatric Epilepsy Origins and Outcome Study; notes that the service also offers genetic counselling to assist families and individuals in moving forward from their diagnosis, and believes that a greater availability of epilepsy specialist nurses, such as in Ayrshire and Arran, would allow both new and existing cases of epilepsy to benefit from tailored information on taking medications and the opportunity of making informed lifestyle choices to maximise their physical, emotional and mental wellbeing.
17:07
I am pleased that my motion was selected for debate, and I thank MSPs of all parties who have signed it and made the debate possible in this epilepsy awareness week.
The past decade has witnessed rapid advances in identifying and understanding the contribution of genetic factors in causing epilepsy. I am delighted that Scotland plays a pivotal role as a world leader in this important field of research.
Genetic testing for epilepsy can inform patients of the cause of their condition and provide an accurate and definitive diagnosis while avoiding unnecessary tests and lead to effective drug management and control.
Epilepsy is the world’s most common neurological condition. It affects more than 50 million people worldwide including tens of thousands in Scotland. There are many epilepsy syndromes, categorised by seizure types and cause. However, the majority of epilepsies are characterised by recurring episodes of seizures in which a disruption in the electrical current and activity of the brain occurs.
There are two main categories of epilepsy: symptomatic epilepsies, in which the cause of the condition is known—for example, a lesion in the brain—and idiopathic epilepsies, in which the direct cause is unknown. It is thought that genetic factors make a greater contribution to, and have greater influence on, idiopathic epilepsies.
Research has demonstrated the influence of genetic factors in epilepsy and the existence of mutant genes, including studies of cases in which similar types of epilepsies were prevalent in identical twins. However, only in the past decade has epilepsy genetic research become more advanced. Genetic mutations and variations can determine the cause of the epilepsy, as well as—to varying degrees—factors such as susceptibility, mechanisms, syndrome, treatment response and prognosis.
The genetics of idiopathic epilepsies can be complex where an interaction exists between two or more genes. The relationship between genetics and juvenile myoclonic epilepsy has been known for some time. That type of epilepsy occurs during adolescence, and is estimated to affect 10 per cent of epileptic patients. It is characterized by myoclonic jerks—the contraction of muscle groups—and tonic-clonic seizures, which are grand mal seizures that involve muscle contraction and loss of consciousness. Mutations of the GABRA1 gene are associated with the cause. That gene encodes for a GABA—gamma-aminobutyric acid—receptor protein that inhibits and regulates nerve transmission in the brain, and those mutations can therefore lead to excitatory neurotransmission and can cause seizures.
The extent and understanding of the relationship of genetics with, and its influence on, other syndromes of epilepsy is an area in which Scotland is at the forefront of research. The Glasgow epilepsy genetics service is the primary genetic testing centre for the United Kingdom and Ireland, and it performs tests for Australia, New Zealand and other countries worldwide. Requests from doctors in less-developed countries are exceptional. However, one-off ad hoc tests have been performed, based on clinical judgement and in close consultation.
The service was established in 2005 and is partly funded by the Muir Maxwell Trust. It currently tests for six genes that are associated with epilepsy and carries out free tests for Scottish hospitals. Tests for more than 2,500 patients have been undertaken, which have given them definitive diagnoses. The service and the health workers involved are recognised as world leaders in modern genetic research.
The service’s on-site consultant paediatric neurologist, Dr Sameer Zuberi, gave an insightful presentation to the cross-party group on epilepsy in which he explained how new genetic research in Scotland is benefiting epileptic patients. His work and that of his colleagues is responsible for maintaining the service’s esteemed reputation. Dr Zuberi specialises in epilepsies that begin in infancy, which are thought to make up 10 per cent of all epilepsies. The service focuses on the genes that are responsible for those epilepsies, including the SLC2A1 and the STXBP1 genes.
Mutations of the SLC2A1 gene are associated with early-onset absence epilepsy in young children. Those mutations lead to difficulties in the normal transportation of glucose in the brain, which is deprived of energy with the resulting effect of recurrent seizures. The discovery of that mutation has allowed clinicians to prescribe a specific treatment: the ketogenic diet. Dr Zuberi illustrated the effect of that treatment by showing a video of an epileptic child to the cross-party group. The child transformed from being unable to maintain balance while walking to being able to walk in a straight line without aid. That highlights the life-changing practical benefits of genetic testing, which include giving accurate diagnoses and allowing the correct treatment, thereby preventing potential side effects from inappropriate medication.
Epilepsy sufferers often find themselves in a spiral of taboos, misconceptions and unanswered questions. Genetic testing can offer relief by providing a scientific cause for their condition and a definitive diagnosis.
It is estimated that 23 per cent of all epileptic patients in Scotland have been misdiagnosed, with all the consequences that that brings, such as inappropriately prescribed medication and false hope. The epilepsy genetics service assesses genetic mutations and changes in genes that are associated with the onset of specific epilepsy syndromes, and determines the patient’s risk of developing epilepsy. It aids in the diagnosis of epilepsy, in combination with the patient’s history and an electroencephalogram.
The service also operates a genetic counselling service for patients with an identified mutated gene. Genetic counselling assesses the patient’s risk and their family’s risk of developing epilepsy and offers guidance, support and confidence to patients who wish to have children. A survey that was performed by the service highlighted that 80 per cent of patients who were surveyed agreed that a genetic diagnosis is beneficial. The impact of genetic testing on epilepsy is only just being explored, but it is clear that Scotland is pioneering future research.
The epilepsy genetic service aims to carry out a Scottish paediatric epilepsy origins and outcomes study, which will relate genetic factors to epilepsy types, socioeconomic factors and outcomes in all new epilepsy cases.
The relationship between pharmacogenetics and drug resistance, which addresses the effects of genetic variation on drug response and adverse effects, is an area that is showing promising signs and in which there are possibilities for future expansion.
Common variation in gene SCN1A has been proven to limit the maximum dose of the anti-epileptic drugs phenytoin and carbamazepine. Implementation of pharmacogenetics will support the clinician and improve drug management, where drugs that complement the patient’s phenotype and epilepsy syndrome can be prescribed.
A dense framework of supportive staff supports the success of the Glasgow epilepsy genetics service. However, the lack of neurologist nurses has been raised numerous times, and many health boards do not have the supportive staff whom they require. The deficiency in the number of neurological specialists prevents health boards from giving some patients necessary care and support, and is an issue to be resolved. I understand that there are currently only 17 epilepsy nurse specialists in Scotland, including two in NHS Ayrshire and Arran, which covers my Cunninghame North constituency.
The success and excellent reputation of the Glasgow epilepsy genetics service is a testament to the hard work and intellect of Scotland's healthcare professionals and researchers in making Scotland a leader in ground-breaking modern genetic testing that will help epileptics and their families, not just in Scotland, but throughout Europe and the world.
17:15
I congratulate Kenny Gibson on securing the debate, and I welcome the opportunity to speak about epilepsy. His analysis of the work of the genetics service was excellent. I have always had an interest in the area, not only as a medical practitioner in my previous life, but as a parliamentarian who has held the positions of convener and deputy convener on the cross-party group on epilepsy for many years.
I join Kenny Gibson in congratulating the staff at the Glasgow epilepsy genetics service. Their dedication, enthusiasm and professionalism are helping and supporting families and individuals throughout Scotland and further afield through modern testing for genetic association with epilepsy.
As Kenny Gibson said, the team continues its support after diagnosis, but there is a need to ensure that there are effective specialist nurses throughout Scotland, and it is critically important that we have the number of nurses that we need.
An early diagnosis of the genetic element can lead to better targeted therapy of the particular form of epilepsy and better use of the medicines that might be applied, to which there are different responses. The service is an excellent demonstration of exactly where medicine is going—the interaction between genetics, the diagnostic element and the fact that treatment will become more and more specialised.
It is a tribute to the excellent work carried out by the service that it is now the primary genetic testing centre for the UK and Ireland. The service also carries out tests for Australia, New Zealand and other countries, including parts of Europe. As the service’s reputation has grown, so has the number of genes that it tests for—it started with one gene in 2005, and I think that it now tests for six or more.
In the past two years, the service has tested more than 500 DNA samples, and has detected mutations, such as the SCN1A gene, in 160 individuals. Fifty per cent of those diagnosed were children under the age of five, and 20 per cent were children under the age of two. More than 80 per cent of the parents who participated in a questionnaire found the testing helpful; more than half found that the testing led to a change in treatment; and around 45 per cent found that the change significantly improved seizure control.
It is important that we draw attention to epilepsy, which is why the recent epilepsy week motion, also in Kenny Gibson’s name, has gained and will gain support from across the political parties in the Parliament.
With eight people developing epilepsy every day in Scotland, continuing awareness is required and is paramount if we are to identify those who are suffering from epilepsy and ensure their early diagnosis through effective first seizure clinics, so that their epilepsy can be managed and corrected, as far as possible.
At a Long Term Conditions Alliance Scotland event that took place the other night, members heard some discussions about the work that is being done by Epilepsy Scotland on employment, which is another issue that has developed. If employers understand how to work with individuals with epilepsy, they will receive immeasurable payback from those individuals.
Epilepsy Scotland’s campaigning is extensive. I have worked with the organisation on a number of issues over the past few years, particularly in relation to justice. Considerable progress is beginning to be made on ensuring that those who commit offences that are associated with post-epileptic states are treated with justice.
Considerable advances are being achieved by the service. It is an excellent unit in an area in which Scotland plays a leading role in the world. We should show gratitude to the staff involved, and I am pleased to support Kenny Gibson’s motion.
17:19
I congratulate Kenneth Gibson on bringing this debate to the chamber, and I commend Allana Parker of the Joint Epilepsy Council and all the committed members of the cross-party group on epilepsy, who do so much to raise awareness of a condition that affects the lives of so many people of all ages in Scotland, and to bring MSPs up to speed with the advances in its treatment and the problems faced by those who are diagnosed with it.
Clearly, the work that is being done by the Glasgow epilepsy genetics service is at the cutting edge of advancing the accurate diagnosis and more focused treatment of patients with epilepsy, with 2,500 people already benefiting from a genetic diagnosis of the condition.
I find it really exciting that the Glasgow centre is now the primary genetic testing centre for six genes—so far—for the UK and Ireland, that it does tests for Australia, New Zealand and other countries worldwide, and that NHS National Services Scotland, which now funds the service, has plans to expand it and to offer more tests that are currently not available anywhere else in the UK.
Given that genetic testing technology is moving on apace, it is clear that, with many conditions, genetic profiling will become increasingly important in determining patient care. Epilepsy genetics is leading the way, and that is very good news for patients and families who live with epilepsy.
The Glasgow service also offers genetic counselling to help families cope with epilepsy once the diagnosis is made, which gives sufferers a better understanding of the importance of taking their medications and helps them to adapt their lifestyle to reach their maximum potential physically, mentally and emotionally. That is where the epilepsy specialist nurse comes in, and I think that the nurse’s role is crucial to the wellbeing of all epilepsy patients, new and existing.
Unfortunately, there are not enough ESNs in Scotland to ensure that all patients receive the recommended level of care, and I worry when I am told that, in these straitened times, many specialist nurses—and not just epilepsy nurses—are being returned to general nursing duties to assist health boards to keep within their budgets. Surely that is a false economy if ever there was one.
I also find disturbing the evidence that health boards submitted to NHS Healthcare Improvement Scotland as part of a peer review of their performance against 16 of the 104 clinical standards for neurological services in Scotland. That evidence showed that only seven of the 14 health boards are meeting the selected standard for people with epilepsy, and that half the boards cannot show that healthcare professionals who carry out primary care annual reviews for patients have completed appropriate epilepsy training.
Surely patients deserve better than that, and I hope that the Scottish Government will endeavour to ensure that the recommendations that were made following the review are implemented. It was recommended that people with epilepsy should have access to a specialist service that is appropriate to their needs, which should include an epilepsy specialist nurse; that they should have access to up-to-date, appropriate information about their condition; and that primary care clinicians should undergo adequate training in epilepsy.
I very much welcome the debate, which gives us the opportunity to put on the parliamentary record the excellent pioneering work that is being undertaken in Glasgow on the genetics of epilepsy, which has the potential to bring lasting benefit to many people who are diagnosed with the condition, not only in Scotland, but throughout the world.
However, while we rejoice in Scotland’s place at the forefront of research on epilepsy, we must not forget that although improvements have undoubtedly been made in neurological services in Scotland—including services for epilepsy—in recent years, there is still a long way to go before all our health boards meet all the clinical standards that have been set for neurological services. We cannot rest on our laurels until they do so.
I thank Kenneth Gibson for securing the debate, and I look forward to the minister’s response.
17:23
I, too, congratulate Kenneth Gibson on securing a debate on what is a very important subject. He is absolutely right to highlight the role of the Glasgow epilepsy genetics service and the important work that it is doing as the principal testing centre for the UK and other countries.
Like Nanette Milne, I also commend Allana Parker—who I see is now in the public gallery—and the team at Epilepsy Scotland for the excellent work that they do on behalf of those who live with epilepsy, for the tremendous support that they give to the cross-party group on epilepsy and for their work in pushing for improved services for patients in areas such as the Borders, where I know that they have been extremely active. They are playing a significant role in securing the provision of specialist nurses, who are vital not only for paediatric epilepsy patients, but for adults with the condition. I agree with Nanette Milne that the value of specialist nurses cannot be overstated. Unfortunately, although progress is anticipated in the Borders, it is likely that there will be a lack of provision for adult sufferers and the position of those with learning disabilities remains a concern for the future.
Only seven of the 14 boards meet the standards for people who have epilepsy. Nanette Milne set out the detail of that, so I will not go over it. Unfortunately, Borders NHS Board meets only four of the 16 neurological health services standards criteria, whereas Dumfries and Galloway NHS Board meets 13 of them, so it is not merely an issue of rurality. There are rural health boards that are meeting the standards and others that are not. I know that NHS Borders chief executive Calum Campbell empathises with epilepsy sufferers and that there is a will to do work in the area. However, there is clearly still a lot to do to ensure that patients’ needs are met in future.
Epilepsy Scotland has provided us with information on progress that has been made in the Borders, such as the appointment of a consultant neurologist and two clinical nurse specialists. However, action is required to
“ensure the engagement and commitment of senior management in the future development of its neurology service ... conduct audits to obtain robust data to monitor performance against standards ... ensure that patients with long term neurological conditions, in particular epilepsy, have access to a specialist services which meets their needs”,
which is clearly not happening at the moment, and to
“provide neurology specific training and education”,
as highlighted by Nanette Milne. That action is required to ensure that other healthcare professionals who are in contact with people who might have epilepsy understand the condition and symptoms.
I am one of the 54,000 people in Scotland—or one in 97—who have had epilepsy. I am extremely fortunate that I had it as a child and grew out of the symptoms. Aside from memories of having to undergo electroencephalograms, take bitter pills, which I hated doing as a small child—I think that phenobarbitone was the nasty piece that I had to take—and make some unscheduled visits to the sick kids hospital, there have been no lasting effects. I have been very lucky.
The work of Dr Andrew Elder, a consultant in acute elderly medicine who appeared before the cross-party group, highlights the fact that there is a clear link between dementia and epilepsy. Because we have a rapidly ageing population, that can only present us with even bigger problems in the future. That is why it is so important for us to have specialist services in place.
Demand for such services will probably grow. As Kenneth Gibson said, not all seizures are the same, so it is vital that there are people with specialist knowledge who can distinguish different types of epilepsy and target the therapeutics appropriately. I commend the work of Dr Sameer Zuberi and his genetics team. He presented evidence to the cross-party group that will, I hope, lead to better targeting of the therapeutics to ensure that we do not use overly aggressive medication when it is not needed, and that we pick up on those individuals who do not actually suffer from epilepsy but suffer from parallel conditions.
17:27
I congratulate Kenneth Gibson on securing tonight’s debate. He gave a scientific and detailed introduction to the Glasgow genetics service to which I do not want to add other than to congratulate the service on its work. I intend to focus my remarks on the other part of the motion, which relates to epilepsy support nurses and the other support that should be available to people in Scotland.
Scotland has 54,000 people with epilepsy and each one is an individual with potential. We should ensure that everyone, regardless of their condition, gets to live life to their full potential.
I thank Allana Parker, Epilepsy Scotland and all the other charities that are involved in providing information and advice to people who have the condition. Their work is invaluable.
Good management of epilepsy is important, and that is where epilepsy specialist nurses can really help. They work alongside and complement the consultant. New patients can be seen promptly. Nurse-led review clinics offer one-to-one support that I know is really valued, especially at the outset after a diagnosis of epilepsy. Specialist nurses assist with and improve the transition from child to adult care—the cross-party group has talked about that a lot and about how much still needs to be done. Specialist nurses also provide better epilepsy management and develop good links with individual patients, offering them and their carers co-ordinated help. They do all that in a real value-for-money way. Each ESN costs the health service around £40,000 and can care for around 250 people.
As those of us who are involved in the cross-party group on epilepsy know, the provision of ESNs is patchy at best. Last week, Epilepsy Scotland provided the group with updated figures. Within my own region, NHS Grampian and NHS Tayside have some provision but I do not doubt that much more could be done. I hope that the minister will address that point in his closing speech.
Earlier this year, I visited the Quarriers epilepsy fieldworkers office in the north-east to learn about the work that they carry out across Aberdeen city and Aberdeenshire. I was really impressed with the range of support that they offer and the wealth of experience and expertise that they bring to people who have epilepsy, their families and carers and to other health professionals.
The theme of this week’s national epilepsy week is “celebrating achievement”. Newspapers and other media have certainly played their part, and I congratulate The Guardian in particular on its supplement on epilepsy earlier this week.
Raising awareness of epilepsy and the needs of those with the condition is a key part of ensuring that everyone can reach their potential. The biggest risk to young people with epilepsy is a lack of understanding, and we must ensure that they are not unnecessarily excluded from activities as they grow up.
I was disappointed to note the fresh research that Young Epilepsy published this week. It reveals that many young people are stigmatised and that their health and wellbeing are put at risk because others have a poor knowledge and understanding of their condition. David Ford, Young Epilepsy’s chief executive, said:
“A major shift in awareness and understanding is the only thing that is going to improve this situation. We know that young people with epilepsy are getting a raw deal when it comes to education, employment and social interaction”.
That is not good enough in Scotland today, and we must all challenge it—not just this week, but all year round.
It is particularly important that our young people are supported both in schools and in leisure activities. The involvement of epilepsy champions is a great way of providing role models for young people who might just be coming to terms with a diagnosis of epilepsy.
On that note, it is fitting that I close with a quote from Commonwealth, European and world champion 400m hurdler Dai Greene. He was diagnosed with epilepsy as a teenager and has pledged his support to help Young Epilepsy raise awareness—he certainly shows that young people do not need to let epilepsy get in the way of achieving goals. He said:
“My advice to other young people living with the condition would be, don’t let it hold you back because anything is possible. Regardless of whether you have epilepsy, or any other condition to be honest, it takes a lot of hard work and effort to get where you want to be. I firmly believe that if you put the time and effort in you will be successful”.
Let us make sure that all our young people who live with epilepsy can live their lives to the full. I pledge to continue work with others in the cross-party group and do all that I can to remove the unnecessary hurdles that face those young people.
17:32
Like others, I thank Kenny Gibson for bringing forward the debate. I congratulate him on securing time to allow this important topic to be debated.
In his comments, Kenny Gibson made a clear case for how progress has been made with genetic testing and, in particular, the benefits that testing can have for infants. Testing has also changed the way in which clinicians, particularly neurologists, manage conditions such as epilepsy. Early diagnosis can often save young children from undergoing invasive and complex tests. That is why genetic testing can have such benefits.
As several members have mentioned, the epilepsy genetics service that is on offer at the Royal hospital for sick children in Glasgow is leading the United Kingdom in the provision of DNA testing for various types of epilepsy. The service’s success is based on the efforts of those who are involved, the wider epilepsy community and on a number of years of investment.
It would probably be fair to say that Scotland is now in the enviable position of being able to continue to improve our understanding of epilepsy as a condition; to ensure that children receive earlier diagnosis, which will ensure that they receive the most appropriate therapy at the earliest opportunity—Richard Simpson referred to that; to ensure that people’s treatment is tailored in the way that is most appropriate to them, which will reduce the potential for serious complications; and, in general, to get a better understanding of the treatment that can be provided to those who have epilepsy.
Kenny Gibson also referred to the Muir Maxwell Trust, and it is fair to say that the service has benefited greatly over the years from support through that trust. I offer the Muir Maxwell Trust my sincere thanks for the way in which it has assisted in supporting the funding of new equipment and for its wider contribution to epilepsy research. That is extremely appreciated by the Government and—I have no doubt—by those who have benefited from the work of the service.
In Scotland, we now have four regional centres that can ensure that, once someone is diagnosed, genetic counselling can be provided to both the individual concerned and their family. As Kenny Gibson rightly highlighted, that is extremely important for the families, as it allows them to make informed decisions about treatment and care in the future.
It is important to recognise that the laboratory services that are provided at the centres are funded by NHS Scotland’s National Services Division, which is responsible for commissioning the molecular genetics and cytogenetics laboratories in Scotland as well as for the Scottish paediatric epilepsy network. The approach of using NHS Scotland’s National Services Division is unique in not only the UK, but the world, because it is the only service of its type that does not operate on a commercial basis. In that sense, it exemplifies the way in which things can be done collectively for the wider benefit.
A number of other organisations support the work that is taking place in Glasgow. There are plans to invest further in the PCR equipment, which will allow an increase in the number of genetic tests and in the range of tests that will be available. That will allow us to continue to improve the rate of early diagnosis and it will help the service to retain its status as a leading one in Europe, to which a number of members have referred.
Nanette Milne referred to the neurological standards. It is fair to say that the genetics service often complements our work to improve neurological standards. In the past two years, we have provided £1.2 million to NHS boards for the implementation of the neurological standards. A key part of that process is about ensuring that services are safe, effective and person centred in the way in which they provide care for those with a neurological condition.
Nanette Milne referred to the recent peer reviews that have taken place among the boards, which highlighted a number of gaps in the way in which boards are performing against the standards. That was the very reason for the peer reviews: to flush out the gaps so that we have a clearer understanding of where we need to make progress, which is what we now intend to do. We have provided additional funding to the Neurological Alliance to establish a national advisory group, which will work on the neurological standards and advise and work with boards to ensure that we continue to improve in the area.
Kenny Gibson, Nanette Milne and others referred to the role of epilepsy nurses. In recent years, the number of specialist nurses in the NHS has increased considerably, and we now have around 2,250. I often hear concerns from those who are involved in other long-term conditions that some specialist nurses engage in clinical work that is outwith their specialism. I am sure that all members will recognise that, in the current period of financial constraint, it is appropriate for boards to consider the skills and talents of their nursing staff and ensure that they are utilised to best effect. However, the neurological standards set out clearly the important role that specialist nurses have as core members of the multidisciplinary team. We see the specialist nurses as having a clear and important role in implementing the standards. I recognise members’ anxieties, some of which reflect the difficult financial climate in which boards are operating. Notwithstanding that, we see the specialist nurses as having an important role.
Richard Simpson referred to ensuring that employers have a better understanding of epilepsy. In recent years, we have funded Epilepsy Scotland to provide literature to assist employers and to ensure that they are aware of and have greater understanding of the condition. We have also funded Epilepsy Scotland’s employer of the year awards, which aim to raise awareness of the condition and the role of employers.
We recognise the invaluable role of the genetics service in Glasgow and we will continue to work with and support it in undertaking that role. I congratulate all those who have been involved in delivering the service and who have supported it financially and in other ways to become a world-leading service of which we in Scotland can rightly be proud.
Meeting closed at 17:39.