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Pioneering service to expand genetic testing GEMMA CHANDRATILLAKE Education and Training Lead, East of England Genomic Medicine Centre and Trustee, Cambridge Rare Disease Network
A ground-breaking new service is poised to transform diagnosis and care for people living with genetic rare diseases in England.
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he NHS Genomic Medicine Service, which was announced last September, will provide healthcare professionals with a directory of available genetic tests in a bid to speed up diagnosis and deliver more personalised medicine. Patients will also be offered the opportunity to participate in a national programme of data collection and research that could inform future treatments and care pathways. Gemma Chandratillake, Trustee of Cambridge Rare Disease Network, said access to this new technology currently varied across the country, and that this was compounded by a general lack of knowledge around genetic testing and rare diseases. Cutting the diagnostic odyssey short “Because there is a lack of awareness of rare diseases, patients can spend a long time being passed from doctor to doctor before they get a diagnosis. “People call it the diagnostic odyssey – the continuous frustration of going from medical appointment to medical appointment, but never really knowing what’s going on.” The new service hopes to change all that. Doctors will be able to look up a patient’s symptoms, and the directory will tell them which tests are needed. These will then be carried out at one of seven new genetic testing “hubs” across the country. “We hope it will speed up diagnosis, because without a diagnosis it is difficult to let people know what to expect and also what the chance is for other children in the family to be affected. Diagnosis unlocks things people need like education and support,” said Chandratillake. 100,000 Genome Project looked at DNA of 85,000 people The service has been made possible by the 100,000 Genome Project, which sequenced the DNA of more than 85,000 people. This huge
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Because there is a lack of awareness of rare diseases, patients can spend a long time being passed from doctor to doctor before they get a diagnosis.” database of genetic information will now be expanded thanks to the option to participate in research made possible through the new genomic medicine service. The possibilities are transformative, said Chandratillake, who is currently educating healthcare professionals on the new system in her role as Education and Training Lead at the East of England NHS Genomic Medicine Centre. “By putting huge numbers of people together, you could identify genes that cause conditions no one even knew about before,” she said, adding that the small number of people living with any one rare disease often made it difficult to conduct meaningful clinical trials. “In the future, researchers who want to do a clinical trial will be able to apply to access a ready-assembled cohort of participants.” And as the service gathers more information on how genetic rare diseases affect people over time, it will inform standards of care. The project will help families affected by rare diseases “In many cases, we don’t know the full range of a condition or what life looks like for families going forward. But this data will offer a better idea of the things to look out for, and how they can affect the patient journey.” Ultimately, the service will help the NHS deliver quality care to the one in 17 people who lives with a rare disease, she concluded. Read more at healthawareness.co.uk
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Collecting data from patients to improve access to treatment SHEELA UPADHYAYA Associate Director, Highly Specialised Technology (HST) Programme and National Institute for Health and Care Excellence (NICE)
People with rare diseases can face many challenges on the – often long – road to accessing treatments. These challenges can make informed funding decisions very tough; in part due to limitations in the evidence for the treatment’s effectiveness.
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hese evidence gaps are often difficult to quantify and decipher in a world that values scientific data over real-life, experiences. Managed access arrangements (MAAs) represent a way of enabling patient access to promising drugs while collecting data from their use in the real world. The data collected from patients help to address clinical uncertainties and mitigate some of the financial risk to the NHS. And the more insight, the higher the chances of better longterm commissioning decisions. Multi-stakeholder approach across patients and healthcare professionals In order for an MAA to collect meaningful and robust data, a multi-stakeholder collaborative approach is necessary. All stakeholders play a vital role in developing and delivering the MAA by helping to define which data to collect, how to collect it and from whom. Industry and the NHS are required to facilitate the collection of data agreed in the MAA, while clinicians and patient groups help to identify and overcome personal and practical challenges to data collection. Practicalities of a data collection group In England, the National Institute for Health and Care Excellence (NICE) plays a role in overseeing the delivery of the agreement by ensuring the data outputs meet the needs of a future evaluation by NICE. NICE does this by assembling a Managed Access Oversight Committee (MAOC) for each MAA, consisting of representatives from the company, patient organisations, commissioning bodies and treatment centres. This group operates under the chairmanship of NICE with the primary function of reviewing the progress of data collection and identifying operational challenges in implementing the terms of the arrangement, ensuring implementation issues are promptly resolved. Who benefits from a managed access agreement? These agreements offer an opportunity for patients with rare diseases to access new and innovative drugs that may deliver benefits to them and their families, in addition to
collecting real-world data to address gaps in the original evidence base. This set-up provides a win-win scenario for all stakeholders: • Patients who meet appropriate eligibility criterion can secure access to a treatment that would not routinely be available outside of managed access in England • Industry is able to collect data in a real-world setting that is applicable to a UK population • The NHS has some protection of the financial risk, as the agreement is time limited • NICE can reassess the technology with a fuller evidence base in the future These opportunities can only be explored when the NICE committee feel it is possible to collect further data to help close gaps in the presented evidence. The committee will ask itself: ‘Which data is missing?’; ‘Can it be collected?’ and ‘How much time will it take to achieve adequate data before it will consider if an MAA will be a good option to consider?’ Data from patients can be collected by questionnaire The data is collected mostly in the clinical setting but can be collected in other ways, e.g. by asking patients and/or their families to complete questionnaires about the impact the treatment is having on their quality of life. At the end of the agreement, the collected data are incorporated into a new submission to NICE for re-evaluation to determine if the technology should be recommended to be provided routinely to eligible patients by the NHS. All stakeholders are made fully aware that the decision made by NICE at re-evaluation is the one the NHS will be mandated to implement.
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