IN CONFIDENCE

PAPER FROM MR C KIRKMAN

Submission to Genetics Green Paper Advisory Panel

Crispin Kirkman, August 2001

 

The impact of genetic technologies on healthcare

• The impact will occur over a period of time, with a steady trickle of tests that should be used as models with which to engage the public and professionals and to establish and evaluate approaches to service delivery.
• We must develop awareness of the spectrum of genetics running from complex disease through to commonly known 'single gene disorders'.
• Genetic tests help to give a more complete picture of risk, but should not be put in a category of greater importance than other biochemical tests or lifestyle issues. However there is a range of aspects and complexities about genetics information that can pose new emotional challenges to patients and families. For genetic testing to be widely accepted, it must be put into an appropriate context.
• Genetics will offer the opportunity to target drugs more effectively, but it is a misconception to talk of an era of 'personalised medicines' in which a genetic test is normally performed before drug prescription and the prescription then tailored to the patient's need.

 

The impact of genetic technologies on the NHS

• We need to explore the extent to which genetics brings at first additional tools rather than replacements. We should use this period as one of learning, through which to engage public and professionals and establish and evaluate approaches to service delivery.
• Initial increase in investment will be needed, particularly in the primary sector for counselling and post-screening monitoring, and in drug budgets during a period of assimilation and afterwards when cost effectiveness of approaches are demonstrated.
• Regulatory framework needed to ensure that testing, both NHS and in private sector, is performed to uniformly high practical standards and uses recognised statistical approaches to interpret the results.
• Genetics could be powerful in helping to reduce disease incidence, providing susceptibility testing is done early in life. Screening programmes could become more focused, regular and in-depth than current population-based programmes, and represent a better investment.
• Genetics has the potential to increase the overall cost-effectiveness of drug prescribing. Where tests are creating or extending the market for drugs, it might be reasonable for the NHS to seek to shift the burden of testing costs onto pharmaceutical companies, who may be willing to provide testing, or support the cost, in order to gain competitive advantage.
• Using genetics to improve response and safety profiles - following a one-off screen on every individual early in life, the patient could be given a card contra-indicating particular drug classes and their medial records annotated. The cost should be comparable to other mass screening programmes already run by the NHS.
• Health economics of such approaches should be funded and worked through responsibly. The private sector influence will be a complicating factor, with private testing generating potential demand for consequent NHS support.

Enabling the NHS to make best use of genetic technologies

• Awareness-raising needed among existing workforce, esp. in primary care practitioners and hospital specialists not working in clinical genetics. This can be achieved using existing rather than futuristic genetic tests - e.g. ante-natal carrier screening and risk assessments of common cancers. Genetic knowledge will also need to be integrated in undergraduate curricula to prepare the future workforce. As genetics becomes a common element in health care thinking, new models of professional team work and communication will be necessary.
• System of registration, accreditation and audit needed for any organisation supplying products or services in genetic testing, in both public and private sectors. The US is well-advanced in this sphere and we could learn a lot from their experience and approach.
• Logistics of testing - number of practical considerations why near-patient genetic testing may not take off:
  
  1. complex techniques and sophisticated instrumentation;
  2. output of tests will guide long term decisions rather than immediate treatment decisions;
  3. analysis of genetic data likely to remain a specialist province - a limited number of test centres would ensure consistency, reliability and cost-effectiveness. E.g. the experience of the Forensic Science Service - centralised testing to achieve economies of scale and benefits of quality.
• Counselling support - genetic testing should be seen as one risk factor among many and a balanced and complete picture presented to the patient. However, as it is not possible to reduce disease risk in all cases, counselling is likely to be needed for those receiving results showing elevated risk. Counselling professionals already present in NHS would need some re-training to develop an appropriate approach for complex disease genetics. Significant increase in the number of such counsellors also likely. Separate counselling and advocacy for all members of families may well be needed.
• Population-wide screening - eventually, we are likely to have a good picture of the genes at the root of many common diseases and response to common therapeutics. It should be possible to construct an assay panel of a manageable number of relevant genes - technology development over the next few years should produce marked reductions in the time and costs of such assays.

Further questions to consider:

• Will there be local sources of best practice advice and local mechanisms capable of handling complaints in this field?
• What is the extent of legal liability for genetic testing and advice?
• Looking ahead to gene therapy, will there be issues of priorities that are left to clinicians but may have legal angles?
• However much money the Government pumps into this, can it ever be truly free from postcode healthcare criticisms? Will the next thirty years see uneven skilling and the influence of the private medicine channel on public services and skills?
• If genetic approaches replace many other interventions, how will this shift in resources be managed? The NHS does not have a good record of adopting new practice as a disease management approach rather than an add-on without substitution.

NHS R&D and Industry

• Good R&D has a commercial value to those who will develop it further, and the NHS should avail itself of this.
• When interventions are introduced to the NHS, there needs to be better advice from industry as to where the development of this technology will soon lead.
• Specific NHS R&D funding is needed for research evaluating clinical applications of new genetic technologies and service delivery models.
• Sale of anonymised data should be supported as of central benefit to mankind. The example of Iceland has shown the benefits of using large databases for research with a commercial focus. The MRC/Wellcome cohort project is another such tool.
• The tools of research should be accessible to industry and healthcare, e.g. the computing power of a hospital with one of the world's largest genetic patient databases was used in mapping the human genome.
• The UK population represents a very high potential resource for genetic research. Many companies seek access to samples, with UK companies often competing against US and European biotech and international pharma. The NHS has an important gatekeeper role to play and this is not well-structured at present:
  
  1. Currently no appropriate individuals in hospitals and NHS trusts to negotiate these types of access arrangement;
  2. Access arrangements generally made with large teaching hospitals, through clinicians holding university research posts, so the immediate and downstream financial benefits go to the university and not the NHS for patient care;
  3. Access to clinical samples is a source of primary raw material for a genetic study. More R&D investment needed to get the product to market - financial demands made by universities often unrealistic in this context;
  4. Due to pressure on universities to generate industrially funded research, there is a tendency to sell to the highest bidder, rather than thinking what generates highest overall value for 'UK plc'.
• More strategic approach needed to avoid becoming a 'third world' genetics country, i.e. selling primary raw material at a low price without capturing the value added through developing secondary or tertiary processing or production activities:
  
  1. NHS should set up a group to negotiate with industry for sample access at hospitals/other NHS-funded institutions where no appropriate university can take this role;
  2. Where access negotiated through a university, a significant share of funds generated should go back to the NHS for patient care.
  3. A regulation could be applied so that access to NHS-derived samples only granted if they are to be analysed by a UK-based lab. This would encourage the build up and retention of genetic analysis skills in the UK;
  4. Rather than seeking long-term financial benefits in milestone and royalty payments to the collecting hospital/university, the NHS could seek a royalty-free, non-exclusive licence to operate under any patents generated from work on samples it provided. This would reduce the cost of diagnostics and therapeutics across the NHS and enable companies to retain the full financial benefit of their sales in the rest of the world;
  5. R&D funds within the NHS will be best directed to population-based or epidemiological studies in order to test the pharmaco-economic benefits of applying genetics-based healthcare strategies;
  6. The development of genetic analysis technologies and the search for disease or drug response genes is best placed either with academic centres of excellence or specialist biotech/pharma groups. But experience from NHS staff is essential in structuring workable study protocols and developing products that the market needs, so grant-funding mechanisms need to be developed to encourage NHS-industry interaction.

Further questions to consider:

• Under what circumstances would the use by the NHS of in-patent technology be attractive to industry?
• Genetic knowledge parks - what will make them successful and what benefits to the NHS and industry can we expect? What form of partnerships will emerge from them? How do we avoid them becoming over-academic, depending as they will on other prior funding, and when the reality of biotech industry is that current scale of companies leaves limited resources to lend to broader causes.
• Regulatory safeguard measures - what measures should the Government be pursuing?

Ethical and Societal Issues

• Dilemmas for clinicians - When to tell and when not to tell and who is entitled to be told? Family interests complicate individual patient ethics, and may require separate advocacy. Ethnic genetics issues raise race sensitivities.
• Lack of universally accepted guidelines in this area. Good Genetics Practice protocols that could be readily approved at any UK site would help in setting up studies through the NHS.
• It would be helpful if the MREC/LREC system could be streamlined. Despite the current complexity, the two-tier independent nature of ethics review produces sensitive treatment of applications.
• Clear guidelines should be developed for the many potentially valuable sample collections gathered historically by NHS/academia under 'research purposes' consents.
• Major pharma companies have established an international working party to develop guidelines for the use of genetics in research and clinical trials. The NHS could interact with this and make the UK a preferred location for such work.
• Issues of consent need resolution if the UK is to use the competitive advantage of the NHS record system to become a leader in establishing prospective databases.
• Primary care physicians will require training for consent related to research studies.
• Consent issues in respect of population-based screening - screening could be split into two parts: a) at birth, to profile likely drug response factors and susceptibility to juveile onset diseases; b) at 18, subject to individual consent, in relation to later onset conditions.