Genetics and mainstream medicine-achieving the transformation
Hilary Burton
PHG Foundation
June 2009
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Key Policy Points
Six years on from the Genetics White Paper, Our Inheritance, Our Future, we have increasing evidence, based mainly on detailed strategic needs assessments in ophthalmology and cardiovascular disease, of the challenges facing the health services. There is a need to consider the policy response.
We now suggest a paradigm for genetics in which, rather than specialist genetics 'moving into mainstream medicine', mainstream medicine itself develops and expands to bring a set of new genomic technologies within its own specialist remit. Notwithstanding this key recommendation, we wish to emphasise that the clinical genetics service will be an essential element of our paradigm, without whose expertise ‘mainstream medicine’ will not be able to further develop its own response to the management of patients with inherited disorders.
The current pattern of 'joint clinics' in which, ideally, the two specialties work side by side may be a practice of perfection. It is rarely realised equitably across the UK even now and will become increasingly difficult with further expansion of genetics within mainstream medicine. Further, our detailed policy work with a wide range of stakeholders in these fields leads us to suggest that it is time for the specialties (and those responsible for commissioning them) to embrace inherited disease for themselves and properly integrate the necessary specialist clinical and laboratory genetic expertise.
The fact that diagnosis of such disorders has implications for family members provides a common thread. Knowledge of possible inheritance patterns imposes a responsibility to consider risk and prevention options for other family members. These elements lead to the requirement for new practice that services in 'mainstream specialties' such as ophthalmology currently have neither the organisational systems, nor the expertise to manage.
Evidence of increasing need for genetic aspects of mainstream medicine includes the following:
· high numbers of patients and families due to greater knowledge of the prevalence of the conditions
· further patients arising from population screening and systematic cascade testing
· new diagnostic methods and treatments that can make a difference to outcome
· recognition of complexity of inherited conditions which requires input from both mainstream specialist and geneticist
· increasing capability for diagnostic testing with development for higher throughput of testing
· wider utility of genetic testing to include reduction in morbidity and mortality, information provision, assisting with reproductive decision making and improving the pathway of care.
The prime elements for a strategic response are:
Engagement of specialised commissioners and provision of support to all commissioners in mainstream services where there are substantial elements of inherited disease. Such support should include, on a national basis, the development of commissioning guidance for mainstream specialities and agreeing clinical pathways between primary, secondary and specialist elements of care. It will require the development of commissioning competencies through the World Class Commissioning Programme.
Consideration of current service development and comparators. Inequities exist across the UK in access to high quality services for inherited disease. The response will require increased overall capacity and some service reorganisation to ensure critical mass.
Development of mechanisms (such as clinical networks) to support developing services and ensure rapid translation of advances and most efficient use of available expertise and experience.
Review of genetic test provision to respond effectively and efficiently to increasing demand, rapidly developing capabilities and changing technologies. This should include how genetic tests should be evaluated and regulated, how to maintain quality in NHS services, how laboratories can best respond to increased demand for testing and the development of mechanisms for requesting, finding and providing genetic tests.
Increasing skills and developing capacity in genetics in the health professional workforce with development of strategies aimed at medical, nursing, genetic counselling and other investigative and supporting professions, to increase the specialist workforce able to provide the specialised elements of services for inherited diseases and to strengthen the supporting primary and secondary care elements.
Developing and evaluating methods for family record keeping and cascade testing. A major strategic decision needs to be made about whether mainstream services will develop their own 'stand alone' systems or whether cascade family testing should use the network of regional genetics services. Unresolved questions about the sharing of data across kindreds, particularly in relation to the introduction of electronic patient records, must be addressed by policymakers through work with relevant clinicians, patient groups, and legal and IT experts.
Audit and research programmes to evaluate effectiveness and cost-effectiveness of services should be developed. This is vital in a climate where health services will need to be prioritised and recognises the current paucity of evidence about the overall effectiveness of specialised services and genetic testing in improving outcome for patients and family members.
Ensuring that specialist genetics elements of services are developed and used efficiently. As more professionals in mainstream services take on genetic elements of the work, it will be important that they have access to supporting specialised genetic services and that the latter are contracted to undertake the more complex elements of care, including, for example, diagnosing syndromic disease, counselling about prenatal diagnosis and interpreting complex genetic test results. There should be debate nationally about what these supporting elements should include and the organisational arrangements that will need to be made between mainstream and genetic service.
1 Introduction
The devolution of genetic services from specialist to generalist was first signalled in April 2001 by the Secretary of State for Health who noted that the NHS needed to 'change and adapt its services' to meet the challenge of genomics. Genetic services would need to spread from specialist centres and into GP surgeries, health centres and local hospitals. In other words, genetic services would become more 'mainstream'. In 2003 developing genetics in mainstream services was one of the main themes of the Genetics White Paper(1) with substantial initiatives in modernising laboratories to provide essential infrastructure, engaging other specialties to 'spur the take-up of genetics' through service development pilots in the hospital sector and developing GPs with a Special Interest in Genetics. It was expected that specialist genetics centres would play a leading role in 'spearheading the diffusion of new genetic advances across the rest of the NHS'.
During the initial phases the paradigm was one of 'genetics' being developed within mainstream medicine. In this paper we draw on detailed needs assessment and reviews of genetics within two mainstream specialities (ophthalmology (2) and cardiovascular disease (3)) carried out between 2006 and 2009 and both involving expert, broad stakeholder groups. We look at emerging needs, effective service developments and organisational aspects and provide a synthesis of current and likely future services issues. Together these make the case for substantial service change. Although our consideration is currently almost entirely limited to single gene disorders, the future integration of genetic aspects into the management of common complex disease further increases the imperative to service transformation.
Our analysis challenges assumptions inherent in the idea of 'genetic services' becoming 'more mainstream' and leads us to propose some policy options to ensure that advances from genetics are enabled to bear fruit throughout the healthcare system. We suggest a future paradigm for genetics in which, rather than specialist genetics 'moving into mainstream medicine', mainstream medicine itself develops and expands to bring a set of new genomic technologies within its own specialist remit. Within this suggestion, we emphasise the need for close co-operation with the clinical genetics service, without whose expertise ‘mainstream medicine’ will not be able to further develop its own response to the management of patients with inherited disorders.
2 Background
In the 1998 Royal College of Physicians document Commissioning Clinical Genetic Services (4) specialist genetics services were designed to provide for: the diagnosis of inherited disorders including congenital malformation syndromes; genetic counselling and associated support; up to date information on the availability of genetic testing; and support and management, especially in the light of genetic test results. There was close liaison between clinical geneticists and laboratory genetic services to allow clarification of clinical factors and interpretation of genetic risks and to ensure the appropriateness of investigations.
At this stage, therefore, much of the emphasis was on diagnosis of rare syndromes. Geneticists were expert at recognising these syndromes, often on the basis of dysmorphologies, and recognition of family history patterns. As now, they advised on risk of recurrence, discussed reproductive options for parents and other family members, and provided information for testing for patients and others who might also be at risk either directly or by passing on the genetic abnormality.
Because they were often dealing with severe, highly penetrant disorders for which prevention options were limited, there was much emphasis on genetic counselling before and after genetic testing and acute awareness of the need to ensure that 'wider family and social and ethical factors are fully considered'. Huntington's disease provides an extreme example of the need for counselling where the condition is almost 100% penetrant, almost invariably severe and there is no means of preventing the condition.
An important point, relevant to subsequent consideration of overall clinical responsibility for patients with inherited disease, is that geneticists have usually not been expected or equipped to provide clinical care and treatment for the phenotypic manifestations of disease, although in the absence of overall care managers they have sometimes adopted this role for some multi-system disorders.
In the last decade or so genetic science and technologies have developed rapidly, bringing an exponential increase in understanding of the molecular basis of a wide variety of inherited disorders across many clinical specialties. Geneticists and clinicians with interest in particular disease areas have responded in many places by the setting up of 'joint clinics' primarily aimed at achieving greater precision in diagnosis and management of familial aspects. Ideally, the two specialties have worked side by side. However, this may be a practice of perfection that is rarely realised equitably across the UK even now and, as we show below, will become less achievable with further expansion of genetics within mainstream medicine. Further, our detailed policy work with a wide range of stakeholders in these fields leads us to suggest that it is time for the specialties (and those responsible for commissioning them) to embrace inherited disease for themselves and properly integrate the necessary specialist clinical and laboratory genetic expertise into their services.
This paper is in two main sections. Firstly, we describe key factors that have influenced emerging health 'needs' for genetics in mainstream medicine. Secondly, we make proposals for policy responses, based on recommendations developed through our two expert working groups.
3 Emerging health needs for genetics in mainstream medicine
Health 'needs' for genetic services are a function of two main elements: epidemiology - the breadth of conditions and the numbers of people affected; and effectiveness - capacity to benefit, which comes from enhanced ability to diagnose, prevent or treat the condition. During recent years advancing knowledge in all of these areas has meant that health 'needs' have increased and widened, with increasing 'need' for specialised inherited disease areas within mainstream medicine. This increasing 'need' is discussed in the following main areas:
1. The need to focus on inherited or heritable conditions
2. Increasing recognition and characterisation of inherited conditions throughout clinical medicine leading to high total population prevalence
3. Screening programmes, family tracing programmes and better clinical practice regarding risk to family members leading to identification of more patients
4. Complexity of genotype phenotype relationship meaning that clinical assessment and genetic test interpretation require a true partnership of clinical and genetic expertise
5. Increased capability for genetic testing
6. Wider utility of genetic testing (with some shift of focus from prediction, risk assessment and counselling around recurrence to diagnosis, disease prevention and treatment)
3.1 A focus on inherited or heritable conditions
The use of the word ‘genetic’ needs clarification. The focus for the debate about developing genetics within mainstream medicine remains largely with the consideration of how inherited or heritable diseases are identified, diagnosed and managed. Testing of DNA may, or may not,, be part of this management programme. Many of the ophthalmological conditions (for example X-linked retinoschisis, characterised by splitting of the retina, which can cause loss of vision) can be diagnosed clinically on the basis of characteristic appearance of the fundus, electrophysiological testing of the retina and family history. The fact that diagnosis of such disorders has implications for family members provides a common thread. Knowledge of possible inheritance patterns imposes a responsibility to consider risk, and prevention options for other family members. These elements lead to the requirement for new practice that services in 'mainstream specialties' such as ophthalmology currently have neither the organisational systems, nor the expertise to manage.
In contrast, technologies based on a knowledge of DNA and its products are widely used within health services, such as for example, the use of gene expression profiling to determine treatments in chronic myeloid leukaemia (using the targeted drug therapy imatinib) or to decide on the use of the drug Herceptin® (trastuzumab) in breast cancer. The development and application of such tests has taken place within the context of clinical cancer and other services and their associated laboratories and does not require expert clinical or laboratory genetic interpretation. It is therefore not considered further in this discussion
3.2 Increasing recognition of genetic conditions throughout clinical medicine
Knowledge of the increasing numbers and range of recognised inherited conditions throughout clinical medicine lead us to the suggestion that, on sheer numbers alone, 'genetic' aspects of these conditions for many patients and their families will have to be managed within the condition specialities rather than by the specialist genetics services. The present discussion is limited mainly to consideration of single gene or chromosomal disorders (the main inherited or heritable conditions). However, increasing knowledge about the contribution of genetic factors to complex chronic disorders such as heart disease, cancer or psychiatric disease emphasises even further the need for mainstream services to incorporate genetic consideration into their diagnostic, preventive and treatment models.