The Scottish Government

REVIEW OF GENETICS INSCOTLAND

NOTE OF MEETING HELD IN CONFERENCE ROOM D,ST ANDREW'S HOUSE, EDINBURGH,MONDAY, 28 JUNE 2004, AT2.00 PM

Present:

Professor Sir Kenneth Calman (Chairman)

Professor John Ansell

Rev Dr Kenneth Boyd

Dr Adam Bryson

Professor J Michael Connor

Professor Neva Haites

Professor Veronica van Heyningen

Mr Peter O'Hagan

Ms Rose-Marie Parr

Professor John Smyth

Dr Rosalind Skinner )

Dr Alastair Philp )

Mr J T Brown ) Scottish Executive

Mr Matthew Cormack )

Mr Brian D West )

2. Introductions

Professor Sir Kenneth Calman welcomed all to the meeting and thanked those involved for taking up the challenge. In the spirit of full disclosure, Sir Kenneth listed some of his other memberships/activities to check they were not in conflict with his Chairmanship of this Group.

Members introduced themselves and declared any interests.

Sir Kenneth said that the main item of business of the day would be Paper 3 at item 6 on the agenda [scope of the review and areas to be covered].

3. Apologies for Absence

Dr Helen Gregory, Royal College of General Practitioners.

4. Background to the Review

Group members offered no comments. This was seen as being a useful paper setting out the background and context of this review.

5. Terms of Reference

The meeting considered the Terms of Reference agreed by the Minister for Health and Community Care for the Review and made public on 17 Jun 04 (set out in Paper 2).

Although these terms of reference were fixed, it was agreed that an amended 'working' terms of reference statement be e-mailed to the membership which acknowledged the importance of 'society' also being a beneficiary of developments.

6. Areas to be addressed in the Review and Method of Working [Paper 3]

The Chairman asked whether paper 3 contained the correct headings for the areas of to covered by the Review. He suggested that much of the work of the Group could be carried out among small sub-groups, by e-mail, with a further day long meeting in early September. To maximise public consultation a seminar could be held in November or December and following this a final collation meeting to prepare the report could be held in January 2005. The report should be with Ministers by late spring 2005.

The Group studied the headings in sections 1, 2 and 3 and following some detailed discussion of a number of topics felt that these should be grouped together. Some specific suggestions were made. For example, the heading of 3 - the Use of Genetics in Diagnosis and Management across Other Clinical Specialties - should read all clinical specialties.

Members explored whether pharmacogenetics and prognostic cancer profiling should be included and agreed that they should. There was also discussion of the use of genetic technology in bacteriology and virology. Dr Bryson explained this was under consideration as part of discussions about the co-ordination of developments in molecular pathology services, through other channels. It was agreed that this issue should be taken forward in collaboration with the work on molecular genetic laboratory services to ensure that there was co-ordination in the development of all services using molecular genetic techniques.

Alternative mechanisms exist at a UK level to cover certain areas such as the use of genetic information and other ethical and regulatory considerations (The Human Genetics Commission), and screening (the National Screening Committee). It was therefore felt that these areas should not be addressed in the report beyond reference to basic issues and these existing mechanisms.

The final report should attempt to give a definition for "genetic". Genetics and Insurance should not be covered in depth. It was felt that item 7, mentioning the biotechnology industry, within Paper 3 ought to be reworded. In its present form it was felt that it gave too much prominence to promoting industry. Members had concerns that this needed to be tempered by protecting privacy and promoting public confidence.

However, there was a feeling that the research/clinical interface should work better. There are opportunities to improve information sharing and the Royal Society of Edinburgh could be involved in this type of work. Closing some of the gaps identified would require resources.

The Group briefly considered the current workload of genetics services and discussed which common diseases would be likely to result in future referrals. Currently the main workload is a collection of rare single gene disorders (mostly obstetric and paediatric related), and highly penetrant familial cancer susceptibilities. In future the workload might grow to include diabetes, hypertension and neurology (for example). Alternatively physicians and surgeons might cover this work (without referring) in liaison with clinical genetics. The option selected will possibly rely on how predictive the genetic information obtained is. Clinical genetics services have a lot of experience with family-based, multi-disciplinary, co-ordinating approaches. The current cancer genetics services were felt to be an efficient model and may be a useful paradigm. The approach taken is to triage referrals using risk thresholds and clinical geneticists only see patients above certain cut-offs for further information gathering and/or testing. Liaison work between clinical genetics and other specialities will require flexible funding and implementation mechanisms.

There was brief discussion about whether the operation of molecular genetics labs should change. Interpolating sequencing of large genes (for cancer genetic testing) into a programme of single gene tests for inherited disease already causes problems. Perhaps a special, separate test centre for rapid sequencing should be established? This will be considered.

Since patients commonly present in primary care first, it is important to consider how primary care can be integrated. What role do GPs want and what do they need to help them address these issues? Primary Care colleagues would be consulted on the preparation of a paper on primary care links and training needs. There also need to be connections made with the education/training and public awareness strands so that GPs have the knowledge and skills to cope with patients turning up with printouts of internet resources for interpretation. Above all there is a need to be careful not to give primary care more work: they are unlikely to be able to absorb it. Sometimes all that is required is a contact telephone number for a clinical geneticist, to discuss problems.

Training of existing staff groups will be a considerable challenge. Getting staff released from other work, getting them together, and funding training are real hurdles. An added problem is that the evidence base in clinical genetics is constantly evolving so it can be hard to prepare enduring training materials or guidelines. This also means that staff training needs to be a constant and ongoing process to ensure staff have up-to-date knowledge and skills.

It was recognised that it would be essential to agree the timeframe that the Review should consider. Given the evolving nature of the subject matter there would be a need to consider whether recommendations can be implemented before they become outdated. Recommendations in a five-year look forward might be overtaken if it takes five years to implement them. It was agreed that the Review should look at the next ten years. Some of the recommendations could be ones that can be implemented without considerable extra expense.

Sir Kenneth summarised the discussion by proposing a structure in which an introductory section of a Report was followed by four sections grouping the issues set out in paper 3. Members indicated which of the four topic groups they wished to join. The structure proposed was along the following lines:

A Introduction:

· Context.

· Definitions.

· Highlight importance of public awareness.

· Areas covered by other bodies (ethics and screening).

· IT capacity (data storage and processing hardware).

· Timescale (5-10 years).

B Best model for service delivery and integration across all specialties

(Professor J Connor, Professor N Haites, Dr A Bryson)

· Clinical genetics.

· Molecular genetics.

· Other clinical specialties

· Primary care.

· Pharmacogenetics

· Information Technology requirements

· Patient perspective

C Learning/training needs of staff

(Miss RM Parr, Mr P O'Hagan, Dr H Gregory)

· Primary care.

· Specialist clinical genetics services (non-medical counsellors etc).

· Molecular genetic and other laboratories.

· Other specialties and staff groupings.

D Better integration of clinical services with genetic research, community and the biotechnology industry

(Professor J Smyth, Professor J Ansell and Professor V Heyningen)

· Balance between maximising utility of clinical data and protection of individual confidentiality and privacy.

· Promoting technology transfer as well as ethical wealth generation in biotechnology.

· Scottish stem cell network may be a model for a network that gets academics and clinicians together and aligns their interests.

E How to develop public interest, learning and understanding (Secretariat)

· Genetics in context: we need to challenge hype and only raise realistic expectations.

· Not just single gene 'Mendelian' genetics.

· Should involve those already active in social science (Innogen and MRC Medical Sociology Unit) and public communication, NHS Health Scotland as well as 'consumer' perspective and make recommendations for coordination of existing activity.

F Summary, conclusions and diagram

Discussion ensued and this structure was agreed. The working group on each topic (B-E) will prepare a two-page paper including a brief description of their recommended model, for circulation and discussion at the next meeting. These papers can then be presented at the open meeting in December and worked into a composite report.

Simon Best, Chair of BioIndustry Association (BIA) in Scotland, should be involved in group D and Martyn Evans, from the Scottish Consumer Council, in group E.

7. Dates for Future meetings

Dates for meetings of the whole group will be advised. Sub-groups will establish meetings directly. The secretariat can help if required.

8 Any other business

There being none, the Chairman thanked those for attending.