PAPER FROM PROF M BOBROW
U N I V E R S I T Y O F C A M B R I D G E
Head of Department
Prof Martin Bobrow CBE DSc FRCP FRCPath FmedSci
DEPARTMENT OF MEDICAL GENETICS
13th July 2001
Mr Tony Taylor
Department of Health
Unit Head, Genetics Unit
Re: Green Paper Discussion
I write to you because I have your email address ï¿½ please pass this on to whoever is more appropriate.
As agreed at the end of yesterdayï¿½s meeting, the issues that I see as important and would like to see included (other than the blindingly obvious ï¿½big linesï¿½) are:
- Data management: Both for R & D, and for patient care, using genetic technologies will require much more coherent data systems for patient information than are currently available. In many hospitals it is currently difficult to retrieve any clinical information beyond a discharge diagnosis, from the central data system. In particular, the inability to link disease, treatment, reaction to treatment, and genotype seems to me a major weakness.
- I suggest there are several different threads to data discussions:
- Bioinformatics ï¿½ the science of data mining, in which the UK has some strength and which certainly needs building. It also needs bringing across the R & D interface into the NHS.
- The management of NHS data ï¿½ as outlined in the previous paragraph, our lack of capability to handle named clinical information in large quantities is a current weakness, which detracts from the value of the NHS as a substantial managed healthcare system offering opportunities for both research and implementation.
- ï¿½DNA databasesï¿½ ï¿½ a confusing term that is applied to at least two totally separate activities, the forensic use of DNA and the large research volunteer collections such as the Wellcome/MRC millennium study ï¿½ which raises ethical issues of privacy and consent
- Clinical scientists and NHS laboratories: although Pathology has had its fair share of public discussion recently, the NHS has traditionally been weak in remembering that its front line clinical services are only as good as the laboratory work that goes on to back them up. Most NHS diagnostic laboratories have been relatively neglected and under resourced. Moving into the DNA era should be accompanied by a very positive view of enhancing our laboratory services, and their standards and profile. This applies not just to the genetics laboratories, but much more broadly ï¿½ the introduction of genomics will have impact in histopathology and clinical chemistry; haematology, blood transfusion and microbiology are already using DNA techniques. The general culture of a vibrant and well recognised laboratory infrastructure in the NHS is a theme I would like to see developed.
- In recognising the need to spread the genetic message through the NHS, we should not be overly concentrated on the medical profession. There is enthusiasm but widespread misconception about genetics amongst not only GPs and hospital consultants, but nurses, paramedical staff, and clinical scientists in departments other than Genetics.
- The NHS/Industry interface will obviously be a prominent theme, but I think needs some quite careful thought. It is not only a presentational matter, but a question of how a genuine partnership of benefit to both bodies can be forthcoming. There is already a considerable interface in the field of drug testing, but it is not entirely clear to me that this is as interactive, and mutually beneficial a model as we need ï¿½ there are an uncomfortable number of anecdotes of trials where the NHS is clearly just being used with very little benefit in return. Nor, in fairness, is it always clear that there is any intellectual input from the NHS. We should be able to do better.
- You could consult on how to gain meaningful consent from all people being treated by the NHS, for the use of genetic and other laboratory tests. If we are to use the NHS for our mutual benefit as an R & D test bed, and if we are going to be able to introduce new methodologies, we need to be able get appropriate generic consent which allows people to understand broadly what they are agreeing to, without getting involved in impossibly bureaucratic detail.
- Although I said it several times yesterday, let me repeat: it is critically important to distinguish between genetic tests done purely for the sake of providing prognostic information, which requires counselling etc; and genetic tests done predominantly for choosing particular forms of treatment, where the prognostication element of the test itself is quite low. The latter are likely to make up the bulk of new discoveries in the field of genetic testing, and they fit much more closely with the current norms of medical practice than they do with clinical genetic practice related to highly penetrant disease.
These are in no particular order ï¿½ they just follow my jottings on a piece of paper. There are obviously a large number of other themes that need to be covered all of which emerged very clearly yesterday. My views on several of the issues involved are already in your possession in the form of the reports on the Working Group on Genetic Testing, the HGAC reports on Insurance and Employment, and the Nuffield Council statement on Stem Cell Research (only tangentially relevant). If you want me to look at, or help with, drafting in specific areas please ask.
Professor of Medical Genetics