Why genetic information will be crucial to the future of care

As new genetic information emerges, it needs to be communicated in the right way to clinicians and patients. We speak to the chief executive of Genetic Alliance, Jayne Spink, about the ways this research will be able to better support personalised treatment.

Why are you interested in the PRSB’s new project?

The concept of pharmacogenetics [the study of how genes affect the way the body handles drugs] is over a century old. However, without the advent of affordable whole genome sequencing [a full genetic analysis], the widespread clinical application of pharmacogenetics would likely have remained impracticable. The NHS Genomic Medicine Service will steadily shift the balance in favour of whole genome sequencing and panels of several genetic tests replacing many single gene tests. We are on the brink of being able to leverage genetic information to guide prescribing practice. We will have the potential to identify new genetic differences that affect how individuals respond to drugs. Individuals and families affected by rare diseases will be amongst the first wave of patients with the potential to benefit from pharmacogenetics. It’s important that mechanisms are found to ensure that data from genome sequencing can be analysed appropriately and the NHS can use the information deliver maximum health benefit for patients.

What are the biggest challenges facing people with genetic conditions when it comes to getting the right healthcare?

Access to early and accurate diagnosis remains a challenge. On average rare disease patients consult with five doctors, receive three incorrect diagnoses and wait four years before receiving a correct diagnosis. Some patients have waited more than 20 years, and around half of all babies born with complex needs of likely genetic origin have historically remained undiagnosed. Diagnosis supports medical management, access to care and treatment and also supports access to support, information and for some, to reproductive choice. Many rare diseases affect multiple systems of the body, which means that several different professionals need to be involved to deliver effective care and treatment. Yet only 13% of rare disease patients have access to someone to fulfil the role of care coordinator. On average rare disease patients travel one to two hours, to attend at least three clinics, at least quarterly to attend hospital appointments. There are an estimated 10,000 rare diseases – and for the majority (around 98%) there is no licensed treatment – and for those where a medicine has been licensed, access can be delayed or blocked by regulatory processes.

Why is it so important for patients that clinicians are able to access specific genetic information in future before prescribing medications?

We would all agree that it’s desirable for the right medicine to be prescribed for the right patient, first time around. When in the future genomic data can be routinely used to support prescribing in order to avoid an adverse reaction, ensure the most effective medicine is prescribed or ensure each individual patient is taking the optimal dose for them, we will have a scenario that delivers better health outcomes for patients and supports effective use of resources for the NHS.

When more of this information becomes accessible, what difference do you think it will make for people?

Personalised prescribing has the potential to deliver the most effective medicine at the best dose without trial and error. This could mean getting symptoms under control more quickly, shortening the length of treatment and for some, avoiding adverse reactions.

What kind of information do people need to know in relation to their genes and medications? 

If we are to collectively benefit from this prescribing advance, we do need to foster a basic level of public understanding – why the best treatment option for me may not be the best option for you. In the future, patients may be able to reasonably expect that a personalised approach to prescribing will be safer and more effective. Equity of access is going to be a real issue. Inevitably, for a period of time we will have two groups of patients, those for whom personalised prescribing is possible because the NHS holds on record pharmacogenetic information and those for whom no data is held. There will also be a challenge in ensuring that as more insights are gained through research, these pull through to patient benefit, that data is analysed more than once and that there is a mechanism for making sure the analysis is translated into clinical practice.

Medication development is one element, but are there any other ways that we can use genetic information to improve future care? 

It’s possible that our genetic make-up could deliver insights about prognosis as well as influence our response to non-drug interventions, and, for example, help to better tailor care plans. In comparison to the focus on pharmacogenetics, there has been (understandably) relatively little interest in exploring the wider influences of our genetic make-up on our response to care. It’s much less likely that there would be clear associations between genetic variations and responses to non-medical interventions, particularly given that our overall experience of care is influenced by a wide range of environmental, social and other factors.

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Personalised care and support planning for people with severe mental illness

A review of a sample of current care plans, and the way they have been developed, may be helpful in identifying the priorities for this improvement. The PRSB Implementation Guide provides more detailed explanations about each element of the plan, including advice on how the planning process might be best conducted.
These questions might form a checklist for current plans to be compared with. 

1. Does the plan include an About Me section in which the service user, in their own words, can indicate the information they want to be available about their lives, their values, their interests, and priorities, available for all those who may care for them?
2. Is the approach to developing a care plan patient centred and engaging, allowing plans to be based on patient priorities goals, and aspirations, along with the actions they plan to take and the support that they will receive?
3. Is there space for a “formulation” to be recorded in which the person receiving care and the professionals who provide it, share and record the personal meaning and the origins of the person’s difficulties?
4. Are relevant procedures and therapies recorded?
5. Where relevant, are one or more contingency plans included for anticipatable disruptions, exacerbations, or deterioration, and do they include advice on what to do and points of contact for those called upon to respond?
6. Where relevant are additional supporting plans incorporated, (an example being an “educational and health plan” for someone with a neurodevelopment disorder)
7. Is a version of the plan available to a service user (if they wish to have it) in a form and format that they can understand and find to be of value?
8. How is a version of the plan available to the GP and other key parts of the health and care system?

Work conducted by PRSB and partners recently has looked specifically at the suitability of this approach to the development and documentation of care and support plans for people with Severe Mental Illness. This resulted in an updated version of the standard (v1.4), for use by any service and for any group of service users, but with some modifications to ensure that it meets the needs of this community. The approach to a patient centred process of identifying goals, hopes, and values, and the support needed to achieve them, is fully compatible with and can be conducted using, specific tools in use in mental health, such as DIALOG, DIALOG+, and ReQoL, for example. 

Where analysis indicates the need for improvement in the content and process of personalised care and support planning for patients with Severe Mental Illness, specific improvement projects should be instituted to co-design with service users and their representatives, and the relevant staff groups, new approaches, and documentation that would be of value in delivering improvement. The toolkit includes a range of existing resources that could be used to engage in this improvement work, including signposting to relevant existing approaches informed by patient experience-based design.

Moving to a single holistic plan

A review of a sample of current care plans, and the way they have been developed, may be helpful in identifying the priorities for this improvement. The PRSB Implementation Guide provides A key development, consistent with national policy on support for Personalised Care across all health and care sectors, is the move towards an individual with complex needs having a single, integrated, care plan, rather than a series of plans developed by different parts of the health and social care system in isolation of one another. For a patient with severe mental illness, the related concerns and challenges might form a very prominent part of such an integrated plan; many will also have concurrent health challenges and needs. The intention is that the relevant services work together to plan and wrap support around the patient and their family in an integrated way, rather than as a series of sequential or disconnected encounters in which the service user or their friends and family have to adopt the role of the integrator.

A starting point would be to agree priority groups of service users who may already have more than one care plan because they need care from more than one part of the system of health and social care. This could be initiated by looking at service users registered with some sentinel practices or PCNs. Alternatively, the approach might focus initially on people with defined co-morbidity or risk that entails collaborative care with agencies beyond specialist mental health services.

The focus here is on the process of care planning and agreement on what should be shared, rather than solely on the technology used;

1. What is the process to agree which professional will initiate care planning and act as the “lead point of contact” for the service user?
2. Will initial plans be agreed with the service user in joint consultations or sequentially? Where and how will they be conducted?
3. What will be the process to agree the elements of the plans which should be available to professionals and potential authorised users beyond the immediate care teams, (A&E services, Ambulance Services, Social services, etc.) with the service user’s consent?
4. How will elements of the plan be updated following consultations in a way which is proportionate, to allow contact and progress notes to be maintained by the service conducting the consultation, whilst avoiding unnecessary work for partners in care if there is no significant change to the personalised care and support plan?
5. What are the implications for workload, logistics, and administration arising out of these decisions?

The answers to these questions and others will best be elicited through focused joint working, grounded in real, or at least realistic examples. This will entail process mapping, and co-design with a range of professionals, service users, and families. Resources from the toolkit and outputs from the Simulation element of this project will be valuable. Some organisations would adopt an approach such as a Rapid Process Improvement Workshop, planned over several weeks and conducted over a number of sequential days, to develop prototype ways of working that could be tested in the field.

Successful teams have the functional skills to lead a task, benefit from diversity, and are led in a way that creates time and space for reflection; the ability to take stock periodically, of the task and of the way in which the team is engaged in delivering it. Your stakeholder analysis [HYPERLINK] should help you assemble the most appropriate team and identify how the team interacts and relates to other stakeholders like sponsors, services users, etc.

The variation in the size, both in terms of population served and numbers of constituent organisations, and of complexity, between Integrated Care Systems, precludes the possibility of any prescriptive guidance on the way in which this team is assembled.

Engeström’s expansive learning cycle of learning actions explains how there are 7 stages of learning actions;