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Gene Watch

Two reports about genetics have recently been published by the NHS Central R&D Committee [1,2]. They are complementary and are worth having on the shelf as useful aides memoir.

Genetics Research Advisory Group

This report [1] concentrates on the impact of advances in genetic testing and understanding of disorders at a biochemical level, and looks forward to preventative medicine through screening for genes which predispose to certain diseases. Cystic fibrosis, muscular dystrophy, haemophilia, immune deficiencies and coronary artery disease are discussed. There are useful chapters (short, readable and pertinent) about genetic techniques, laboratory services and the delivery of genetic services in the NHS.

The recommendations of the group are mainly about the need for directed research in particular areas - concentrating, for instance, on screening for Down's syndrome and cystic fibrosis, but with the important proviso that genetic screening with its ethical overtones will need, like cancer screening, careful thought, evaluation and counselling.

Genetics of common diseases

The second report [2] examines the genetics of common diseases. It has much to commend it. Because much of the groundwork was covered in the first report, this second report is more expansive. It has a useful glossary for those of us unused to this area, some intriguing maps of chromosomes with the gene loci so we can actually see where the problem lies, and it has a valuable set of appendices bringing together genetic information on particular topics - diabetes, breast cancer, colon cancer, cardiovascular disease, coronary artery disease, rheumatoid arthritis, Alzheimer's disease and venous thrombosis. The way each of these is handled in text and appendices really brings the reader up to the present state of the art with remarkably little brain ache.

Each topic has its own interesting questions. Venous thrombosis, for example, may be associated with a defect in blood coagulation factor V. This genetic defect (Factor V Leiden) may be present in up to 5% of the population. Since these individuals are at higher risk of venous thrombosis (in one study of men over 60 years with venous thrombosis, 26% had the mutation), a key question is whether screening for this genetic defect is practical for patients undergoing major surgery where thrombosis is common, and if practical whether it is effective or cost effective. The jury is hardly selected yet, but some centres are considering research projects.

Summarising the reports:

1 Progress in genetics is very rapid, partly as a by-product of the human genome mapping programme.

2 Almost all major disease susceptibility genes (and some genes conferring protection) will be identified in the next 5-10 years and techniques will be available to detect mutations and polymorphisms in them.

This will lead to:
  • a better understanding of the pathophysiology of common diseases
  • a new taxonomy of disease
  • opportunities to prevent some diseases and for earlier and more effective treatment of others
  • more accurately targeted therapies
  • fewer side effects from therapy
  • more effective use of limited health care resources

3 If the potential benefits of this progress are to be achieved a carefully planned programme of research and development will need to be implemented in:-
  • education, both public and professional
  • screening for high risk groups and perhaps whole populations
  • counselling
  • service organisation and development involving ongoing formal evaluations and integration of primary care into genetic services

4 Educational programmes are needed to increase public and professional understanding of the new genetics.

5 Consequences of progress in molecular genetics will not be limited to the areas currently considered under the umbrella of genetics but will impinge widely on many aspects of clinical and laboratory medicine, and indeed to horizons beyond medicine.

Other sources

There are other places to go to look for useful and accessible information on the new genetics. The House of Commons Science and Technology Committee report [3] is longer and a bit more technical. The Welsh Health Planning Forum document [4] examines some of the implications of the new genetics for the NHS.

Internet sources

There are increasing sources on genetic information available on-line and down-loadable from the Internet. Dr Eric Sidebottom has produced a list of some useful addresses, shown in the box. Some are UK addresses, and therefore will be quite readily accessible most of the time without some of the delays occasionally found when accessing US sources.

Human Genetics on the Internet

The amount of information already available is staggering and there are many routes to the same destination but a good place to start for human genetics is the OMIM (on-line inheritance in man) database set up by Victor McCusick's department in Johns Hopkins, Baltimore.

That is an interesting story in itself. Victor McCusick started the database in 1960. It was computerised in 1963 and went on-line in 1985. McCusick maintained the database personally until 1993 when he was replaced by 12 'subject editors'.

OMIM is updated 'almost daily'. An interesting example of how fast things are moving is provided by an entry on August 31 reporting the inclusion of a new Alzheimer's disease susceptibility gene. The second R&D report is already out of date!

Internet address:

This can be easily accessed (by mouse) using an Internet browser such as Netscape. Try for example:-

MRC Human genome mapping project resource centre on:
then->otherGenome infor->genome databases->human genome databases->OMIM


Oxford University Networked Information Service-
then>Academic departments -> Dept of Biochemistry -> Genome databases -> Human -> OMIM

Other useful starting points are:-

GDB human genome database

Dept of Genetics Library at Cambridge

Yahoo genetics (Stanford)

Once discovered, of course, any useful source should be 'bookmarked'.


  1. Report of the Genetic Research Advisory Group. A first report to the NHS Central Research and Development Committee on the new genetics. July 1995. Department of Health.
  2. The Genetics of Common Diseases. A second report to the NHS Central Research and Development Committee on the new genetics. July 1995. Department of Health.
  3. Human genetics: the science and its consequences. July 1995. Report of House of Commons Science and Technology Committee. London HMSO.
  4. Genomics: the impact of the new genetics on the NHS. June 1995. Welsh Health Planning Forum.

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