PAPER FROM DR P DEBENHAM
14 August 2001
Re : Key perspectives for the Green Paper on the future provision of genetic services in the UK
Please find below a summary of my personal thoughts as to the key issues that need to be addressed in the Green Paper. The first meeting of the Advisory Panel had a very useful exploratory discussion of the themes involved, particularly with respect to the public understanding of the final text. I felt the emphasis on communicating the perceived benefits verses concerns as well as the use of examples to help relate the topic to tangible issues would all be relevant once we had rationalised exactly how we saw the future evolving. Therefore I would suggest we do need to bite the bullet and start with trying to forecast the future nature and provision of genetic services. In this respect I feel we should progress through consideration of the following points.
- Infrastructure for provision of genetic tests. Existing NHS capabilities and approaches to genetic services should be reviewed as the starting point and challenged as to whether these constitutes all the necessary framework required for defining future possibilities. I personally do not believe that the NHS has all the capabilities itself and thus we must seek a structure that can accommodate the expected growth of diagnostic services from the pharmacy industry as well as the emerging commercial sector laboratories. The future role of pathology services providers who already provide DNA-based viral and microbial diagnostics, both NHS and private, also needs to be put in to the frame. Further, internet-ordered provision must be encompassed as a future source of genetics in the UK.
- Prediction of relevant tests. We need to futurescope the range of tests realistically expected within the next years and from that assess how best to provide them. This must recognise that many such tests will originate from, and be patented by, commercial sources outside of the UK who will doubtless seek a remuneration structure. I believe we will identify different classes of genetic diagnosis that arguably will need distinct service provision, support requirements and regulation.
- Counselling Resources. We need to thoroughly consider the appropriate levels of counselling resources required for the different classes of expected testing services. For instance pharmacogenetic tests associated with modification of prescription dosage for the individual may be best provided and counselled through pharmacy outlets. At the other end of the spectrum predictive tests for severe disorders or cancer will require specialist medical counselling, but for common disease diagnostics, say a test defining the nature of diabetes, would primary care staff be best placed to explain and advise on the results? It may be that a wide range of sectors need to be involved in the future planning, training and provision of counselling services. This is particularly relevant when we consider the potential for 'point-of-care' test technologies (see point 5 below).
- Economics of service. The economics and distribution of resources required for the expected future genetics services could very much colour what is realistic to forecast. At present I understand the NHS has ~23 specialist laboratories (excluding pathology laboratories) for an expected demand of the order of 120,000 genetic tests per year. This averages only 100 tests per week per laboratory, which cannot be the best use of resources. The concept of supra-regional laboratory centres needs to be addressed both with respect to establishing centres of excellence as well to economies of scale. This in turn requires challenging consideration of the historical proximity requirement for counselling services. The potential use of testing facilities/services from the private sector should be considered particularly as such providers are already driven by quality-assured, cost-effective and rapid service parameters.
- Point-of-care testing. Further to point 4 above we need to consider how the development of genetic 'point-of-care' technologies will influence service provision, counselling support and regulatory oversight. The possibility of POC technologies is very much in hand and not science fiction. POC technologies could evolve from gene chip platforms by which it may be just as easy to test for genetic determinants for hundreds of disorders, as to test for one specific diagnosis required at the time.
- Training. The provision of genetic services, particularly those devolved from specialist centres, will require considerable preparation of support materials and training of appropriate staff on a national basis. Actions now to incorporate suitable genetics into medical, pharmacy, and nursing degrees/ coursework would take many years to provide adequate numbers of knowledgeable staff. Therefore consideration is required as to how timely training is to be achieved on the scale required.
- Data management. The Green Paper will need to seek mechanisms that balance ease of physician /paramedical access to genetic data for the patient's treatment against safeguards for privacy or insurance disclosure. Individual rights with respect to genetic technology should be defined to guide exactly what can be analysed, who owns the information and who has access to that data.
- Quality. It cannot be assumed that DNA test technologies are error-proof. Thus it may be advisable for the Panel to consider by what mechanism(s) tests are validated, quality controls are set and proficiency schemes are devised, operated, monitored and participants accredited. Equally proponents of tests may not be the best arbiters of what is relevant genetically with respect to defining a disease state. It may be advisable to create a second NICE programme to offer fit-for-purpose, cost-for-efficacy genetic evaluations for the NHS.
It has been expressed that a goal of the Green Paper is to seek to establish the best position for the NHS to take advantage of the future advances in genetic science. I would argue that a progressive, no-holds-barred evaluation of the issues above should result in an inter-linked set of predictions and responses that can provide a sound and safe foundation for the provision of genetics in the UK.
Dr Paul G. Debenham
Director of Life Sciences, LGC
Managing Director, University Diagnostics Ltd