Latest Policy Work

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Response to proposal to display medicines pricing on packaging

The Department of Health and the MHRA have been consulting on a number of amendments to regulations relating the the functioning of pharmacies. A set of these amendments relate to a proposal made by the Secretary of State for Health that indicative prices would be put on all medicines dispensed by the NHS in England costing more than £20 as well as a statement about how the cost of the medicine is met such as for example ‘funded by the taxpayer’. It is suggested that this would reduce waste by reminding people of the cost of medicines, and also improve patient care by improving patient adherence to medicines.

We are very concerned about this proposal, which is likely to be very difficult to implement and also to not have the intended effect. At least within the field of rare and genetic conditions, patients tend to already be aware whether they are taking a high cost medicine.

NHS England has not presented any evidence to support the claim that printing the prices of high cost medicines on the packaging will increase adherence. On the contrary, this proposal is may have a negative impact. We are concerned that vulnerable patients may stop taking their medicines, or reduce their dosage, without consulting their doctor, due to guilt or other feelings regarding the cost of the medicine.

We would urge the Department of Health to wait until the likely impact of this proposal has been evaluated through substantial research before taking any steps to implement package pricing.

Our full response to the plans can be found here


Developing a method to assist investment decisions in specialised commissioning

NHS England has just concluded a 30 day consultation on a method to prioritise which treatments and policies will be funded in specialised commissioning for the 2016/2017 commissioning cycle. In 2015 NHS England held a consultation on which principles should guide their approach, which we responded to at the time . This consultation was solely on a method of relative prioritisation, of how they will apply those principles.

We have written extensively on the topic of NHS England commissioning for rare diseases. As NHS England needs to evaluate those rare diseases medicines that NICE does not select for one of its appraisal routes, it is by default the primary appraisal body for rare disease medicines. For this reason it is of vital importance to patients with genetic and rare conditions that the process by which NHS England decides which commissioning policies, put forward by the Clinical Reference Groups, will be commissioned using the limited funding available, is transparent and fair.

In our response we accept that the proposed process of positioning each commissioning policy on a cost vs. effectiveness matrix seems a reasonable approach to compare competing funding priorities. However, we are concerned about the lack of clarity and accountability on how decisions are made about the positions of each policy in the matrix to position each policy. For example, it is necessary to be clear on how terms including cost and benefit are defined, and the application of the principles.

The cumulative effect of these multiple issues is that the proposed method de-prioritises treatments for rare conditions, an aspect which has been acknowledged by senior staff at NHS England . We suggests a few small changes to the proposed method and slight shifts in focus, so that commissioning decisions will be made in a rational and consistent manner, and without exacerbating the health inequalities currently experienced by patients affected by rare diseases and their families.

Our full response to this consultation can be found here. If you have any questions please contact .


Our response to the UK policy framework for health and social care research

The NHS Health Research Authority (HRA) recently consulted on their policy framework, which will apply to all health and social care research that falls within the responsibility of any of the four UK Health Departments. The policy framework will unify the current system in which there are four separate Research Governance Frameworks for each UK nation. The policy framework will act as a basis for operational provisions and sets the standard for conducting health and social research in the UK.

Research is essential for the rare and genetic disease community where there is a significant level of unmet health need. It is crucial that patients and patient organisations are involved throughout the whole research pathway. We welcome the new UK policy framework, as it goes some way to ensuring that this happens within the HRA remit. Involving patients, service users and the public can bring great benefit to the research itself, and should be an absolute – rather than the current wording that the document uses: ‘where appropriate’. This creates ambiguity around whether involvement is necessary at all stages of the process.

Patient involvement in research can become a tick box exercise for some researchers. For this reason we have recommended that the HRA expand on what is expected of them when involving patients, service users and the public in their work. The HRA needs to expand on the different ways in which patients can be involved, as well as providing information on the benefits of involving patients in research.

To find out more about the benefits of involving patients in research please see the Patient Partner project, in which Genetic Alliance UK was a participant, here and here.  

Our full response to this consultation can be found here.


Our response to the changes to NHS England’s Clinical Reference Groups (CRGs)

NHS England has been consulting on proposed changes to CRGs. CRGs are groups of clinicians, commissioners, public health experts, patients and carers who provide advice to NHS England based on their specific knowledge and expertise. CRGs provide advice on various areas such as service specification development, commissioning policies, innovation and quality of services.

Each CRG has had, up until now, two patient and public voice (PPV) members. We feel that the recruitment of these members is an integral part of getting CRGs to work for patients. Recruitment of PPV members needs to be focused on finding people who have the skills to effectively represent the communities for which the CRG is salient. They need to be able to represent the wider community, not one small group, being capable of bringing consensus, gathering the opinions of a range of stakeholders where appropriate and be well placed to disseminate news and opportunities to the community.

In light of the changes being proposed to CRGs, specifically in terms of merging some of the current groups, there will be many fewer PPV members. This makes the effective recruitment of the right people even more important. We need a clear and proportionate recruitment process, with a programme if work and terms of reference which are published.

Whilst NHS England consults on the substantial changes to CRGs, we have been surprised to note that the implementation appears to have begun already. In the past few weeks it has become apparent that NHS England’s intention is to close the existing CRGs before the end of March 2016, and before recruitment for the replacement begins. The fact that at least one CRG (Metabolic Disease CRG) has been closed before the end of the consultation raises serious questions as to how seriously NHS England will be taking the results of this consultation. The premature dissolution of CRGs will leave a wholly avoidable gap in expertise. We do understand, however, that there will be further opportunities for patient involvement as part of working groups.

In our response to the consultation we have outlined some key proposals that we believe should be implemented at this stage:

  • Best practice guidelines should be developed for Clinical Reference Groups in consultation with members and stakeholders
  • A technical review of the current Clinical Reference Group structure should be carried out to ensure coverage, capacity and expertise is appropriate across portfolios
  • A detailed strategy for recruitment to clinical reference groups needs to be published
  • Clear terms of reference for clinical reference groups and their affiliated groups needs to be published
  • A more thorough review of the coverage of all clinical reference groups’ remit, with steps taken to ensure all disease areas are effectively covered.

Click here to read our response in full.


Our response to the Welsh antimicrobial resistance delivery plan

In response to the increasing international problem of drug resistant infections, the Welsh Government is now holding a consultation for patients and the public to comment on the draft Welsh delivery plan, part of the UK Antimicrobial Resistance Strategy

The problem of drug resistant infections is of particular interest to the genetic condition community – there are a number of factors common to this group that can raise a patients’ risk of getting infections, and harbouring chronic infections. These can include: compromised or absent immune systems, the suppression of an over active immune system, immune suppression after organ transplantation, skin conditions that foster infection, unusual lung morphology that can lead to infection, and muscle weakness that makes coughing and sneezing less effective as natural defences.

For some in the rare disease community, infections that are resistant to drugs can be deadly.

Whilst we have welcomed the Welsh Government’s commitment to tackle this problem, the delivery plan does not take account the specific needs of those in the genetic and rare disease community who use antibiotics. The delivery plan focuses on the use of antibiotics for more common infections and minor injuries – taking no account of the types of life-long condition which use antibiotics as part of their treatment.

Read our full response here.


Our response to the upcoming changes to the Cancer Drugs Fund

NHS England has been consulting on the proposals for the use of the Cancer Drugs Fund (CDF) that will take effect from April 2016. The CDF is a ring-fenced fund to get cancer drugs, that are not routinely available, to patients. We have submitted a response to the consultation.

The proposed changes to the CDF represent a marked improvement to the current arrangements.The CDF has historically incurred large overspends which have been topped up by funds taken from NHS England’s budget for the commissioning of medicines and services for rare conditions. However the new proposals fix the CDF annual budget allocation and apply investment control mechanisms within the fixed budget. We support this measure to prevent these massive overspends from occurring in future years.

Whilst we welcome these changes, we have also highlighted our overarching position that ring-fenced funds create inequality in the evaluation and commissioning system in our response. It is clear that to ring-fence funds for a particular group of patients puts those who are not part of that group at a disadvantage. Because a ring-fenced fund will have it’s own criteria for evaluation, unfair and inconsistent decisions may be made. In this situation the resources of the NHS cannot be distributed in an equitable manner.

The best means to ensure that all patients are able to access effective medicines and services on the NHS is by establishing a system for evaluating and commissioning them that is timely, transparent and fair to all.

Click here to read our full response to this consultation.


Our Response to the Accelerated Access Review’s Interim Report

The Accelerated Access Review team released their Interim Report in October 2015, setting out 5 propositions to accelerate access to ‘transformative health technology’. This when put out to consultation. In our response to the interim report, we highlight some of the key concerns for patients with rare, genetic and undiagnosed conditions.

The key thing for our community, unsurprisingly, is to get effective treatments. Foremost this means starting right at the beginning, making sure that researchers are looking at the aspects of conditions that patients feel most strongly about. The key to this is patient involvement – making sure that patients are consulted right from the start.

The way treatments are assessed by commissioners, when they are finally ready to be accessed through the NHS, is often the most visible barrier to accessing medicines. In our response to the interim report, we make clear that the health economist’s toolbox needs updating to give patients with rare and genetic conditions access to new treatments.

In our response we discuss the missed opportunity that is value-based assessments of new medicines, and the places that rare disease patients are let down by QALYs and EQ-5Di assessments. Using the results from our Citizen’s Jury on weighing the risks and benefits of new medicines for serious conditions we address one of the fundamental problems with the way that commissioners evaluate medicines. The foremost question that regulators attempt to answer is “do the benefits outweigh the risks?” We have identified that patients with rare and genetic conditions often perceive risk and benefit differently from the general public. As a result we must ensure that patient voice is placed at the centre of assessments.

We also call for clarity over how and why certain appraisal routs are chosen over others. There appears to be no cohesion between the different pathways and the system is over complicated with many different routes to access.

Read our full response to the Accelerated Access Review Interim Report here to find out more.

Setting the mandate to NHS England for 2016 to 2017

Every year the Department of Health publishes a mandate for NHS England. The mandate exists to set objectives for NHS England and ensures that the NHS is accountable to Parliament and the public.The DH has been consulting on the mandate for 2016-2017.

In our response to the consultation we argue that the new mandate is an opportunity to align government policy with the real world activities of NHS England. We explained how explicit reference to policy priorities, such as the implementation of the UK Strategy for Rare Diseases, as objectives in the annual mandate can substantially increase the likelihood of achieving progress in these areas.

The mandate acknowledges certain ‘health gaps’ for some patient groups such as those living with dementia, or people with learning disabilities, and makes them the target of improvements. Patients with rare conditions often struggle to gain access to the treatment and support that they need, due to the rarity of their condition. In our response we argue that the rare disease patient community should be added to the list of patient groups experiencing disparities in health outcomes.

You can read our full consultation response here.

Our response to the HTA consultation on their codes of practice

The Human Tissue Authority (HTA) regulates the removal, storage and use of human organs and tissue. This includes the donation of organs and bone marrow from live donors. The HTA has been consulting on its codes of practice. The Codes cover 7 areas: principles and consent, post mortem, anatomy, public display, research, organ donation, and bone marrow and PBSC.

In our response to the consultation we focussed on two particular issues, both relating to the code on research. We discussed a gap that we believe the HTA should be filling; the regulation on non-cellular DNA. We also tackled issues of consent for children and young people, which we felt had not been addressed in the codes.

To read our full response click here.

Our response to the Maternity Review

The Maternity Review was set up earlier this year by the Chief Executive of NHS England, Simon Stevens, as part of the NHS Five Year Forward View. The Review is being chaired by Baroness Julia Cumberlege and is considering how maternity care provision and services could be developed to better suit the needs of women and babies in England.

In our response we have stressed the importance of screening and appropriate training for clinicians in treating and diagnosing rare, genetic and undiagnosed conditions.

You can read our full response here.

Our response to the children and young people’s continuing care framework

The department of health has been consulting on the draft national framework for children and young people’s continuing care. The framework will be used by clinical commissioning groups and other professionals in addressing health needs of children and young people, not currently met by existing or specialised services. You can read the draft here

Whilst there are positive aspects to the document, such as the inclusion of a single point of contact for continuing care, we feel that the needs of children with undiagnosed genetic conditions need to be addressed more thoroughly, so that they do not face barriers to receiving the care and support they need. We feel that it is really important that neither assessments nor access to continuing care services should rely on having a diagnostic label, and this needs to be reinforced in the framework. Read our full response here.

Joint briefing on the Access to Medical Treatments (Innovation) Bill

We have supported a joint briefing on the Access to Medical Treatments (Innovation) Bill, which will have its second reading in the House of Commons today, Friday 16 October 2015. In this briefing we, and other patient groups, have welcomed to intention of this bill, to give access to innovative treatments. However, the briefing also spells out some of our communities main objections to the bill, including the premise on which the bill is built.

Click here to read the briefing in full.

Our joint statement on the in vitro diagnostic medical devices regulation in the EU

Regulation of in vitro diagnostic medical devices is essential. We are concerned however, that the proposed EU Regulation 2012/0267(COD) could restrict access to genetic testing technologies and restrict wider uptake – having an adverse effect on health. Genetic testing is increasingly a standard part of clinical practice in mainstream healthcare, being a useful tool in diagnosis, treatment, predictive testing and management of health conditions.

The regulation will now go through trilogue negotiations, and Genetic Alliance UK, along with other patient groups, academics and research organisations, is urging the European Parliament, Council and Commission to support genetic testing technologies. We hope they will find a position that does not restrict access, that is flexible enough to suit the different healthcare systems across the EU, and that has the appropriate scope for this regulation.

Click here to read our joint statement on this issue.

Our response to the Department of Health’s consultation about refreshing the Public Health Outcomes Framework

The Public Health Outcomes Framework (PHOF) is a tool used as a benchmark for progress in public health. The PHOF was first published in 2012 with the intention of providing an overview of public health outcomes at local and national level through a broad range of indicators of what is considered as public health. Three years on, the Department of Health endeavour to ‘refresh’ the framework’s indicators to make sure that what is measured is as relevant and useful as possible.

In our response to the consultation we argue that although the indicators are designed to cover the ‘full spectrum’ of those areas of public health that are measurable, a blind spot exists in regard to rare conditions. This means that while some aspects of public health (such as mental health and substance misuse) are afforded multiple indicators, the 3.5 million individuals in the UK with a rare disease are overlooked.

Click here to read our full response.

Our response to the UK National Screening Committee’s consultation on cell-free DNA testing in the first trimester in the Fetal Anomaly Screening Programme

The current procedure for pre-natal screening for Down’s Syndrome is the standard combined blood test and ultrasound offered to all women. Women identified as having a greater than 1 in 150 chance of having an affected pregnancy are then offered an invasive test to give a diagnosis. Many women opt out of this invasive test because it carries a risk of miscarriage at approximately 1%.

The UK National Screening Committee (UKNSC) have been consulting on whether to introduce a new non invasive prenatal test (NIPT) for women in the same risk category for Down’s syndrome, Edwards’ Syndrome (trisomy 18) and Patau’s syndrome (trisomy 13) as those that are currently offered an invasive test. This test would sit between the combined blood test and ultrasound, and the invasive diagnostic test.

We support the UKNSC’s recommendation that this should be implemented as it will give couples greater autonomy in whether to have prenatal tests without the risk of miscarriage. It is expected that the number of women opting to have the NIPT will be much higher than those that currently undergo invasive testing. However, the rate of miscarriage, and the proportion of women undergoing invasive testing who have an unaffected pregnancy will go down.

You can read the UKNSC recommendations here, and Genetic Alliance UK’s response here.

Our response to the Accelerated Access Review

The Accelerated Access Review (AAR) is being undertaken by the Department for Life Sciences, with the aim of speeding up access to innovative drugs, devices and diagnostics for NHS patients. The team at the AAR plan to release an interim report in October and have been taking submissions from stakeholders to inform this report.

Over the last month we have been engaging with our members around the Review, by creating a series of videos to inform on issues we would like to see addressed. You can see these here.

In our response to the Review we have raised some important points around patient data, engagement of patients, value based assessments and the value of innovative products. The most important point we would like to be considered is one around the process by which new medicinal products or medical technologies are placed on one of eight routes to patient access. This process needs to be made clear and transparent for patients.

You can read our full response here.

Our joint response to the HSCIC consultation on the IGARD draft terms of reference

The Health and Social Care Information Centre (HSCIC) has been consulting on the proposals for the establishment of the independent group advising on the release of data (IGARD) to replace the data access advisory group (DAAG). The role of this group is to scrutinise requests for data releases, primarily under the Health and Social Care Act 2012 and the Care Act 2014. The remit of IGARD will expand on that of DAAG to enable improvements in decision-making in respect of data releases. The HSCIC intends the group should ensure transparency, accountability, participation, quality and consistency.

The draft terms of reference for IGARD that have been consulted on can be found here.

Genetic Alliance UK has submitted a join response with the Academy of Medical Sciences, Arthritis Research UK, Association of Medical Research Charities, British Heart Foundation, Cancer Research UK, Economic and Social Research Council, Medical Research Council, Pelican Cancer Foundation and the Wellcome Trust.

In this response we have highlighted the need for the patient community to be represented within IGARD, as well as pointing to some areas of governance which are currently lacking clarity.

Click here to read the joint response.


Our briefing to the Northern Ireland Assembly Committee for Health, Social Services and Public Safety on the Control of Data Processing Bill

The sharing, use and governance of data are important issues for rare and genetic disease communities. Data sharing has an important role to play in research to address the high level of unmet health need for people with rare and genetic conditions.

Genetic Alliance UK has submitted a briefing to the Committee highlighting the value of secondary use of data and the attitudes towards this within our community. You can read the briefing on the Northern Ireland Assembly’s website here. 

Resources for the accelerated access review

Today we have launched the first video in our series of resources to help members with their responses to the accelerated access review (AAR). The AAR is going to be an important channel to communicate ideas about access to interventions to the government. Click here to take a look.


Our briefing for Public Health England (PHE) on models of consent for the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS)

In November 2013, the department of Health published the UK Strategy for Rare Diseases. In this strategy all four Governments of the UK committed to improving systems for the recording of incidence and prevalence of disease, to standardise data collection, and support patients to register on databases. These commitments recognise the important role that data sharing and research has to play in addressing the high level of unmet medical need within the rare disease community, and has led to the creation of NCARDRS. NCARDRS will combine existing regional registers, and will fill the gaps that currently exist in some areas of the UK.

Using insights from the project My Condition, My DNA, Genetic Alliance UK has produced a briefing for PHE to highlight our view on the model of consent that should be used for this register. We support the use of the statutory power defined in Section 251 of the NHS Act 2006 for data collection for NCARDRS. This provides the statutory power to allow NHS patient identifiable information to be used without the consent of patients where it is needed to support essential NHS activity, but where gaining consent is not practicable. This is because we think it is crucial to the interests of the genetic and rare disease community that NCARDRS can create a data set that is as complete as possible.

You can read our full briefing for further details here. 

Our response to the Welsh health specialised services committee (WHSSC) draft service specification for genetic services for Welsh residents

The WHSSC has been consulting on its draft service specification for genetic services. The Service Specification covers a description of clinical and laboratory genetics services, referral pathway and monitoring arrangements for quality and performance.

In our response we draw attention to the experience of those with undiagnosed conditions and their families. Some 50% of children who are in contact with NHS Regional Genetics Services may not get a diagnosis. The current service specification for genetics services in Wales does not include a clear pathway for those with undiagnosed conditions.  

We also discuss our concerns over the independent patient funding request (IPFR) – you can read more about our thoughts on this, and other access issues in Wales, in our report “Improving access to specialised services and therapies for Welsh patients”.

You can read our full response by clicking here.

Health select committee oral evidence session: current issues in NHS England

On Tuesday 21 July 2015, the Health Select Committee heard oral evidence on the current issues in NHS England from NHS England’s Simon Stevens, Chief Executive, Sir Bruce Keogh, Medical Director and Jane Cummings, Chief Nursing Officer. Genetic Alliance UK submitted a briefing to members on some of the issues that we have identified through our policy work. You can read the full briefing here.

Our response to the HFEA consultation on mitochondrial donation regulation

Mitochondrial donation is a technique that gives couples affected by mitochondrial DNA disease the opportunity to have a healthy child born with working mitochondria. We have responded to the Human Fertilisation and Embryo Authority’s (HFEA) consultation on the regulation of mitochondrial donation. Though this technique will only benefit a handful of our members, we see this issue as a paradigm for the future delivery of innovative treatments in the UK, so we continue to follow the issue and present the view of the patient community.

Click here to read our response to the HFEA consultation.

Our reponse to the EPAC consultation on cross border genetic testing of rare disease in the European Union

The European Public Affairs Committee (EPAC) held a consultation on their recommendations on cross border genetic testing of rare diseases in the European Union.

The UK Genetic Testing Network (UKGTN) promotes equity of access to genetic testing for rare conditions, and ensures that the highest possible standards are upheld in genetic testing in the UK. The recommendations of EPAC seek to do the same, improving the continuity of genetic testing in Europe.

Here you can find our response to their recommendations. We point to the UKGTN as setting a great example of how genetic testing could take place across Europe. Genetic Alliance UK has also highlighted some concerns about the recommendations.


Our response to the Academy of Medical Science's call for input on their project looking at public health in 2040

Healthcare in the UK faces many challenges in the coming years, such as an aging population and health inequalities. The Academy of Medical Sciences’ ‘Health of the public in 2040’ working group project has been exploring the ways in which the future problems in health for the UK population can be addressed. The ‘call for input’ from the Academy of Medical Sciences, gave Genetic Alliance UK the opportunity to contribute ideas about what the future of healthcare might look like for people with genetic and rare conditions. You can read our response here.



Our response to the Northern Ireland Department of Health, Social Services and Public Safety's consultation on the Individual Funding Request process

Often rare conditions are serious and life-limiting but have no treatment or cure available. This means that when a new therapy does come along, it is important that they get to the patients that will benefit from them as quickly as possible. The Northern Ireland Department of Health, Social Services and Public Safety (DHSSPSNI) have conducted a consultation on their Independent Funding Request (IFR) process after concerns were raised from stakeholders, charities and others. You can read their proposals in full here.

Genetic Alliance UK has seen that the IFR process can routinely prevent rare disease patients from being able to access the treatments that they need for a number of reasons. One of the most important is that for a successful IFR application a patient must demonstrate that they are exceptional from other patients with the same condition. Rare conditions often have variable symptoms, symptom severity and rate of progression, which can make demonstrating that you are 'exceptional' very difficult. More importantly though, most rare disease treatments have not yet been looked at by a technology appraisal body and so there is no formal way for a patient to access them on the NHS. This can mean that whole groups of patients with the same condition are requesting the same treatment through the IFR route as it is the only option available to them. Because this contravenes the 'exceptionality' criteria, the whole group of patients have their IFR applications refused so that they are still unable to access the new treatment they need.

Genetic Alliance UK's response highlights this ongoing issue for rare disease patients and the IFR route, and comments on the other proposals from the DHSSPSNI. You can read it in full here. We continue to work on the IFR processes of all four home nations of the UK where the exceptionality criteria is resulting in rare disease patients being routinely denied treatment on the NHS.



Our response to the UK National Screening Committee's consultation on screening for Fragile X during pregnancy

Fragile X syndrome is a genetic condition and is the most common known cause of inherited learning disabilities. It affects around 1 in 4000 boys and men, as well as 1 in 6000 girls and women. Fragile X is diagnosed by genetic testing. The UK National Screening Committee (UK NSC) is responsible for assessing the risks and benefits of introducing new population-wide screening programmes. Genetic Alliance UK have responded to the UK NSC's consultation on its recommendation not to screen for Fragile X in pregnancy. You can read our response here.


Our response to NHS England's consultation on their clinical commissioning policy for Uveitis

Uveitis is a rare, serious condition that can lead in severe cases to permanent eye damage and loss of vision in children and adults. For many patients the previously available methods of treating the condition have no impact or are associated with adverse effects. More recent drugs, infliximab and adalimumab, are considered effective treatments for these conditions. After large numbers of Independent Funding Request (IFR) applications were submitted for the medicines, NHS England produced a clinical commissioning policy for both infliximab and adalimumab. Our consultation response on their clinical commissioning policy can be found here.



Our response to NHS England's consultation on genetic testing for BRCA1 and BRCA2 mutations

Having a mutation in the BRCA1 or BRCA2 genes can increase the risk of developing some cancers, particularly breast and ovarian cancer. Knowing whether you carry a mutation in either BRCA1 or BRCA2 can change how your cancer is treated or can allow you to decide whether you want to undergo any available interventions to help reduce the risk of developing cancer. NHS England commission genetic testing for BRCA1 and BRCA2 in individuals who have more than a 10% risk of having the gene mutation, which is calculated based on family history of BRCA gene related cancers. Genetic Alliance UK have responded to NHS England's consultation on their commissioning policy for genetic testing for the BRCA1 and BRCA2 genes, which sets out who will be offered this test on the NHS. Read our response here.



Our response to NHS England's consultation on their new Genomic Laboratory Services infrastructure

Many patients affected by rare conditions do not receive an accurate diagnosis for many years, and may be misdiagnosed multiple times during that period. We also know through our initiative SWAN UK (syndromes without a name) just how scary and frustrating is can be as a parent or family living with a child who is unwell and has an undiagnosed condition. Genetic testing is vital for the many patients and families affected by rare genetic diseases in order to help get them an accurate and timely diagnosis for their condition. The NHS has just completed their consultation on changes to the Genomic Laboratory Services infrastructure, which they hope will help expedite diagnosis for rare conditions. Our response can be read in full here. Our response has been shaped by the findings of our Patient Charter “Genome sequencing: what do patients think?”, which you can read here.



Our reeponse to the UK NSC: Screening for FAOD consultation

Genetic Alliance UK encourages the UKNSC to establish a pilot screening programme for Carnitine Transporter Deficiency (CTD) and Very Long-Chain AcylCoenzyme A Dehydrogenase Deficiency (VLCADD). As these conditions are already part of newborn screening in the USA and several European countries, it is likely that the pilots would be successful and provide the UKNSC with sufficient evidence to support the introduction newborn screening for CTD and VLCADD in the UK, particularly as treatments for these conditions are already available. Read our response here



Our response to the UK NSC: Screening for AAMD consultation

Genetic Alliance UK encourages the UKNSC to establish a pilot screening programme for citrullinaemia and argininosuccinate lyase deficiency. As both of these conditions are already part of newborn screening programmes in the USA and six European countries, it is likely that the pilots would be successful and provide the UKNSC with sufficient evidence to support the future introduction of newborn screening for citrullinaemia and argininosuccinate lyase deficiency in the UK.

Genetic Alliance UK supports the implementation of newbornscreening for tyrosinaemia I. The fact that no feasibility studies for screening for tyrosinaemia I at birth have been carried out in the UK should not stand in the way of the UKNSC recommending newborn screening for this condition using the most effective screening methodology in line with recent advances in this area. Read our response here



Our response to the UK NSC: Screening for Galactosaemia consultation

Genetic Alliance UK supports the position of our member, the Galactosaemia Support Group, and would welcome the implementation of a formal newborn screening programme for Galactosaemia. The Galactosaemia Support Group have reached this position based upon patient experience and on the review held by their Medical Advisory Panel. Read our response here.



Our response to the EMA: Application of transparency rules of EU Clinical Trial Regulation consultation

The Patients Network for Medical Research and Health (EGAN) speak on behalf of patients when we welcome greater sharing of clinical trial data throughout the union due to opportunities this will provide to improve our understanding of rare diseases and therefore our ability to develop new treatments. In this consultation response we call for clarification on what is meant by 'personal data' and how that relates to whether the data is personally identifiable. We ask for expansion on what constitutes 'overriding public interest'. EGAN believes that the EMA and the pharmaceutical industry should be as transparent and open as practicable. We recommend that the regulations that govern which data are made publicly available on the EMA database should mirror the consent patients give when agreeing to participate in the clinical trial itself. Read our response here



Our briefing on abortion for fetal sex

We have joined forces with Antenatal Results and Choices to produce a briefing against an amendment to the Serious Crime Bill which may limit reproductive choices for women at risk of having a child affected by a serious genetic condition. Read our briefing for MPs here.



Launch of our patient charter on genome sequencing

Today we are launching our third patient charter. This time our focus is on patient attitudes to genome sequencing. You can download a copy of our charter and find out more here.



Launch of our report on improving access to specialised services and therapies for Welsh patients

Today we are co-hosting an event with the AKU Society at the National Assembly building in Wales in order to raise awareness of the benefits to patients with rare diseases of gaining timely access to specialised services and therapies. We have received a number of reports from our patient group members in Wales regarding the difficulties their patient community can face in trying to access specialised services and treatments in Wales, or to get the referral they need to access those services elsewhere in the UK.

As part of the event, our Director, Alastair Kent OBE, will be launching our report on ‘Improving access to specialised services and therapies for Welsh patients’. The report makes 14 recommendations that aim to address the current barriers to accessing to specialised treatments and services, including new medicines and diagnostic genetic tests, both within Wales and though referrals to UK specialists. You can download a copy of the report here.


Our response as EGAN to the European Medicines Agency's consultation on replacing, reducing and refining the use of animals in medical research

The use of animals in medical research is a contentious issue, dividing opinion on moral and ethical grounds. The European Medicines Agency (EMA) held a consultation on the regulatory acceptance of the '3R' testing approaches: the 3Rs are replacement, reduction, and refinement. This means using methods which avoid or replace the use of animals where realistically possible, methods which minimise the number of animals used per experiment, and methods which minimise suffering and improve animal welfare. Genetic Alliance UK worked with the Patient’s Network for Medical Research and Health (EGAN) to highlight the need for investment in the 3Rs. You can find our full response to the EMA consultation here.


Our response as EGAN to the European Patients Forum regarding the communication of the lay summary for clinical trial results

In the past, the results of clinical trials have not always been reported in full, data has not been published or researchers have been selective in what they report. The rare disease community have a special interest in this problem. There are often no, or very few, treatments for rare conditions, therefore, when medicines are trialled for the treatment of these conditions there is great interest within the rare disease community as to whether that medicine has been effective in reducing symptoms, slowing the progression of their condition or reducing mortality.

New EU Clinical Trials Regulation requires that all clinical trials in the EU must be registered in a new database and the results published, including a summary that is understandable to ordinary people. Genetic Alliance UK, on behalf of the Patients Network for Medical Research and Health (EGAN) has responded to the European Patients Forum's (EPF) member consultation on the communication of the lay summary. EGAN has supported the calls for guidelines to be implemented at an EU level for lay summaries and calls for the formation of a defined working group involving all interested parties, including patients, patient representatives and members of the wider public to produce guidelines to be developed at EU levels. Read the full response here.


Our response to the World Health Organisation's consultation on their International Clinical Trials Registry Platform (ICTRP)

Recently, there has been much discussion around the disclosure of clinical trial data and what can be done to improve transparency and ensure all trial outcomes, whether positive or negative, are made publicly available. The World Health Organisation (WHO) has taken steps to address this issue by developing an International Clinical Trials Registry Platform (ICTRP), where information about clinical trials from around the world can be recorded and viewed.

Genetic Alliance UK has responded to the WHO consultation on their proposals to highlight how important reporting and sharing clinical trial data is to the rare and genetic disease community, particularly when so many rare conditions have no treatment and rely on clinical trials to identify new therapeutic options. Our response also emphasise the need to ensure that rare disease trials are not routinely excluded from the ICTRP on the basis that small numbers of trial participants can increase the likelihood of individual identification from summary data if it is made public. You can read the full response here.


Our response to the UK National Screening Committee's consultation on introducing newborn screening for Gaucher disease

The UK National Screening Committee (UK NSC) make decisions about population-wide screening programmes, including which conditions should be screened for at birth as part of the bloodspot newborn screening programme. Genetic Alliance UK, and other stakeholder groups, have taken part in the review process for the UK NSC’s recommendations on screening for Gaucher disease in newborns. In our response, we supported the view of our members, the Gauchers Association, who after surveying patients and families recommended that newborn screening for Gauchers was not introduced at the present time. We suggested, though, that the UK NSC should further explore the potential value of newborn screening for Gaucher type 2 and type 3. In our response we also highlighted the importance of screening and early diagnosis to reproductive choice and the importance of patient/familial voice in the UK NSC appraisals process. You can read our full response here.


Our response as EGAN to the European Medicine Agency's consultation on EU portal and EU database

In the new EU Regulation on clinical trials, the EMA was made responsible for developing and maintaining the IT platforms (the EU clinical trials portal and EU database) that will support the submission, assessment and supervision of clinical trials in the EU.You can read their proposal here.

In our response we emphasise the value for the rare disease community of sharing clinical trial data as, perhaps more than those affected by more common conditions, rare disease patients rely on the collection and sharing of data across national boundaries in order to establish a useful evidence base. We recommend that the EMA ensure that rare disease trials are not routinely excluded from inclusion in the database on the basis that there is a higher risk of individuals being re-identified from trial data. We note that when rare disease patients consent to participating in a clinical trial they have already understood the risk of re-identification and have decided that the benefits of the trial for themselves as individuals, as well as for others affected by their condition, outweighs this risk. Our full response can be read here.




UK National proposals for a sustainable cancer drug fund consultation response

The Cancer Drugs Fund (CDF) is money taken from NHS England's budget that is set aside to pay for cancer medicines in England that haven’t been recommended by the National Institute for Health and Care Excellence (NICE). This may be because NICE have not looked at the medicine yet or because they found that it did not work very well or was not cost effective. In 2013/14 the CDF overspent by £30.5 million and the money needed to cover this expense was taken from NHS England’s specialised commissioning budget that pays for medicines and services for all those affected by rare conditions, including rare cancers. NHS England has been consulting on new operating procedures for the CDF that means that in order to be funded by the CDF, the medicine must show that it is clinically and cost effective. In our response, we support the change in that it creates a more level playing field between those patients affected by cancer and those affected by many other conditions that rely on NHS England funding for their treatments. Our response to their consultation about the proposed changes can be found here.


UK National Screening Committee Screening for Gaucher Disease - an evidence review consultation response

Genetic Alliance UK supports the recommendation of the Gaucher Association’s response to this consultation that at this present time no formal Screening Programme should be implemented for Gaucher Disease.

However, we believe it would be valuable for the UK NSC to examine the potential value of introducing a screening programme that looked to diagnose type 2 and type 3 affected individuals by testing for the genetic mutations that have been linked to these conditions.

Moreover questions must be raised about UK National Screening Committee current methodology which places a premium on peer reviewed literature to the exclusion of all other forms of evidence. We note with particular concern that in this instance the literature review is two years out of date.

To view more of our recommendations on their consultation please see our full response here.


Our response on behalf of EGAN to the European Medicine Agency's consultation on the conduct of public pharmacovigilance risk assessment hearings

The EMA has been consulting on how it should regulate public hearings at the Pharmacovigilance Risk Assessment Committee (PRAC). Their proposed rules and procedures can be read here.

The PRAC is the committee at the EMA responsible for assessing and monitoring safety issues for human medicines. As we outline in our response, we believe that in the proposed procedures the EMA has overestimated the likely interest from the wider public while placing too little emphasis on the views of patients who will have direct experience of the medicine in question. We call for the EMA to amend the proposals so that the patient voice is considered as distinct from the views of the wider public and to require proactive engagement from the EMA with the patients and clinicians that have had direct experience of the medicine in question. You can read the full response here.


Our response to the Department for Business, Innovation and Skills consultation on developing a new Science and Innovation Strategy

The Department for Business, Innovation and Skills plan to produce a new Science and Innovation Strategy in 2014 and have asked for comments on their proposals from interested parties.

Genetic Alliance UK took the opportunity to highlight the importance of a vibrant research community to rare disease patients who look to research and innovation to address their unmet medical need with new treatments and therapies. Furthermore, as we better understand how common conditions can be broken down into smaller subgroups defined by genetics and biomarkers, more and more conditions will be classified as 'rare', allowing greater personalised treatment. The UK therefore needs to develop a research structure that works for rare conditions and is prepared for the breakdown of common conditions into many rare subtypes.

By developing a strategy that complements the UK Strategy for Rare Diseases, the Science and Innovation Strategy will be sustainable, relevant and supported by the implementation of the Rare Disease Strategy's commitments. Our full response can be read here.


Our response to the Department of Health's consultation on protecting health and care information

The Department of Health has proposed a set of Regulations that introduce tighter controls and safeguards on the use of personal health and care data. Data sharing is an essential driver of medical research into rare conditions and ensures that the NHS is able to plan for and provide the treatments and services rare disease patients need. We therefore support a clear, functional system that can facilitate data sharing for patient benefit rather than restrict it, while reassuring those that participate that their data will be stored and shared safely and accountably. In our response, we raise our concerns that the proposed Regulations will instead make it more difficult for rare disease patients in particular to share their data and therefore benefit from the outcomes. In line with the commitments made in the UK Strategy for Rare Diseases, we also ask in our response why the Regulations do not specifically outline how patients will be able to access their own health and care data. Read our full response here.



Genetic Alliance UK supports the post of Chief Scientific Adviser to the European Commission President

We are supporting the maintenance and strengthening of the role of Chief Scientific Advisor to the European Commission President, along with the European Genetic Alliance Network (EGAN), Cancer Research UK, Alzheimer’s Research UK, Association of Medical Research Charities, Wellcome Trust, NHS Europe office, Arthritis Research UK, International Brain Tumour Alliance – IBTA, Parkinson’s UK.

Read the letter here.




Our response to the UK National Screening Committee's triennial review

The UK National Screening Committee (UK NSC) has recently completed a consultation on their role and processes as part of the review they undertake every three years. The UK NSC make decisions about population-wide screening programmes, including which conditions should be screened for at birth as part of the bloodspot newborn screening programme.

Our response to their consultation raises a number of concerns we have about the lack of patient engagement in the process and their exclusion of evidence that is not published in peer-reviewed journals. We feel that for rare diseases this means that much of the most up-to-date information available on the nature of a condition and the experience of diagnosis without a screening programme is absent from the UK NSC's considerations. You can read our full response here. You can also find out more about the consultation by watching our video. 



The UK National Screening Committee (UK NSC) makes decisions about which conditions to screen the UK population for. Every three years they review their role and the processes they use for making their decisions. As part of this review, the UK NSC is holding a consultation so that interested parties can feed their views into the review process.

The last day for submitting your response is the 8th July 2014.

Genetic Alliance UK will be responding to the consultation and we would like to encourage as many of our members as possible to do the same. To help, we have made the information video below.

The video gives background information on the UK NSC and explores some of the issues raised in the consultation. It includes video interviews with Pat Roberts from Save Babies Through Screening Foundation; Jane Field, whose son wasn’t diagnosed with Duchenne Muscular Dystrophy until he was seven and a half; and Nick Meade, Genetic Alliance UK’s Director of Policy.

You can watch the video or download a summary of the information.


Genetic Alliance UK's response to NICE's consultation on value-based assessments

NICE has recently outlined their proposals for value-based assessment (VBA). This process will replace original plans to introduce value-based pricing (VBP) and will determine how all future medicine appraisals are carried out at NICE. A consultation was held to gather the opinions of interested stakeholders and Genetic Alliance UK has prepared a response, which you can read here.

As we outline in our response, NICE’s VBA proposals are a missed opportunity. Burden of Illness (BoI) and Wider Societal Impact (WSI) presented a framework within which NICE could formalise consideration of additional factors beyond those already captured by Quality Adjusted Life Years (QALYs) in order to achieve a more accurate representation of a medicine’s value as perceived by patients, their families and carers and wider society. Relying on further manipulation of QALYs, already an imperfect measure of patient health gain, does not achieve this and merely represents a reshuffling of NICE’s existing priorities.



Consultation response: The Medical Innovation Bill

Genetic Alliance UK actively supports research and innovation across the field of genetic medicine. In this capacity, Genetic Alliance UK has endorsed the Manifesto For Patient-Driven Medical Innovation developed by Centre for the Advancement of Sustainable Medical Innovation (CASMI). Genetic Alliance UK also welcomed the introduction of NHS England’s ‘Specialised Services Commissioning Innovation Fund’, before the initiative was suspended.

There is much more that could and should be done to address the barriers that currently inhibit theadoption and integration of research and innovation into the NHS.

To see our full response please click here


Launch of Genetic Alliance UK’s Patient Charter - endorsed by 77 patient group members like you!

Thank you to all those who endorsed and helped support the launch of Genetic Alliance UK’s Patient Charter last week. It was great to see so many of you getting behind the launch on Twitter and by posting blogs onto your website. The greater the support for this Patient Charter, the more powerful it will be for enacting positive change, so thank you.

If you are yet to produce a blog on the Charter for your own website but would like to, please feel free to get in touch with who will be happy to send you an example template and provide you with more information.

The Patient Charter was produced following a workshop hosted by Genetic Alliance UK for representatives of its patient group membership and was subsequently endorsed by 77 of Genetic Alliance UK’s patient group members.

It highlights the concerns patients have that the new approach the Government and NICE are using to determine whether or not medicines for very rare conditions are made available through the NHS is opaque, potentially disruptive to the wider NHS and risks downplaying the patient voice. The new process is NICE’s Highly Specialised Technologies (HSTs) evaluation programme.

The Patient Charter was launched at a breakfast meeting co-hosted by the Association of the British Pharmaceutical Industry (ABPI) and BioIndustry Association (BIA) at their headquarters in central London. It was chaired by Alastair Kent OBE (Director, Genetic Alliance UK). On the panel were Steve Bates (BIA), Josie Godfrey (NICE), Dr Robin Lachmann (National Hospital for Neurology and Neurosurgery) and Frances Macdonald (ABPI).

The launch was a fantastic opportunity to have all the key stakeholders in one room to constructively discuss the issues raised by patients in the Patient Charter. Each of the panel members were first invited to give their views on the Patient Charter’s findings, before representatives from patient groups, the pharmaceutical industry, NICE and NHS England were then given the opportunity to ask questions. This led to a lively and diverse discussion and it was great to see all the stakeholders engaged in such a thought-provoking and productive meeting.

Genetic Alliance UK are now following up the progress made with the Patient Charter by ensuring it is taken into account in NICE’s review of the HST evaluation process, which is expected before the end of the year.

Genetic Alliance UK are also starting to plan their next Patient Charter. This will also be looking at access to medicines for rare diseases but will take a much broader scope, examining all the potential routes of medicine appraisal and commissioning in order to add clarity and highlight any gaps or inconsistencies. 

Download the Patient Charter

Read a Storify of the event using this link.

Check out the analysis by the Bioindustry Association here.

Coverage roundup:




Another step towards mitochondrial replacement therapy

The Government launched a consultation on draft regulations on mitochondrial donation last week. This is another step towards ensuring it will be possible to access this technique in the UK when studies demonstrate evidence that the technique can be trialled for the first time.

We told the press: "We welcome today's consultation launch as another vital step towards potential delivery of this intervention in the clinic. In considering the latest development, we should keep those who hope to benefit from this intervention at the forefront of our minds. The majority of these couples will have found that they are at risk of having a child with a mitochondrial DNA disease as a result of the birth of a child with the condition or because of an unsuccessful pregnancy. Their families have already been affected by mitochondrial DNA disease. This innovative treatment is their first chance to be certain that their future child will be free from a mitochondrial DNA disease. The value of this certainty to a couple is huge. We look forward to examining these draft regulations in detail and responding in due course." Alastair Kent, Director, Genetic Alliance UK.

Though this technique will only benefit a handful of our members, we see this issue as a paradigm for the future delivery of innovative treatments in the UK, so we continue to follow the issue and present the view of the patient community.



NHS England Service Specification Consultations

NHS England has launched a consultation on changes to fourteen service specifications for specialised services. These cover service specifications produced by the Renal Dialysis Clinical Reference Group (CRG), the Cardiac Surgery CRG, the Complex Disability Equipment CRG, the Paediatric Intensive Care CRG, the Neonatal Critical Care CRG and the Complex Gynaecological Services CRG. You can access the individual service specifications under consultation here. The closing date is the 21st May 2014.

This is the first wave of a rolling programme of consultations from NHS England on specialised service commissioning. Every quarter a new twelve week consultation will launch, providing an opportunity for consultation on the latest set of proposed changes from clinical reference groups.



Rare Disease implementation plan launched by the Welsh Government

On Friday, 28th February, the Deputy Chief Medical Officer for Wales, Dr Chris Jones launched the Welsh Implementation Plan for Rare Diseases at the Institute for Medical Genetics at the Heath Hospital, Cardiff. Thank you to all those were able to attend the launch event at such short notice which meant that many were unable to attend due to half term and prior commitments.

The document is now available on the Welsh Government website here. A consultation period of 12 weeks is attached to the plan and we would encourage responses to be submitted to the Welsh Government.