In a famous exchange with one of his opponents, Winston Churchill magnanimously concluded, “History will judge which of us is correct”, before adding, “and I shall write the history”.
Just as histories are said to be written by victors, so futures are predicted by enthusiasts. This is certainly the explanation of the professional and media hype surrounding promised applications of the new genetics. Perhaps it is true that one day people will have plastic cards containing their personal genome and precise predictions on their likely dates and causes of death. Perhaps it is also true that pharmacogenetics will allow us to titrate drug doses to maximum effect in susceptible patients. But such predictions seem to fly far in advance of understanding of the types of research studies that would be required to inform such developments, and the practical difficulties, uncertainties and costs of carrying out such studies.
Will people be better off knowing the sorts of things that geneticists are going to be able to tell them? Will the information be precise enough to give individual advice? Are we sure that we can do no harm? Undoubtedly people will need to be better informed, but is that educational task a job for primary care? Will such activity offer sufficient value, compared to the many activities competing for time within general practice and primary care?
Let’s begin with what we already know, or don’t know. Every October, we provide second year medical students with data from the West of Scotland screening programme for Down’s Syndrome. The epidemiology surprises them. The typical case is not an elderly mother but a young one. 20% of all cases occur in women allocated by the screening test to the low risk group. Another 27% of cases occur in women who were never screened. Complications of amniocentesis result in termination of one healthy pregnancy for every four terminated because of Down’s.
23% of pregnant women are not screened, perhaps by choice. 28% of women found by screening to be at high risk decline a diagnostic test (99% of them go on to have a healthy baby). 2% of women with a positive diagnostic test elect not for termination but to give birth to a baby with Down’s. What kinds of ideas, concerns and expectations underlie such decisions and are health professionals sufficiently knowledgeable and skilled to tune in?
In 1998, an article in Health Bulletin (1998;Vol 56: pp631-4), reporting a survey in another part of Scotland concluded, “Expectant mothers need to be given accurate information in order to give informed consent to serum screening for Down’s syndrome. The majority of health professionals in this district do not have the knowledge to be able to give such information. The training of professionals involved in ante-natal care therefore needs to be reviewed”.
The bright future offered by the new genetics is an exciting prospect, but better delivery of “the old genetics” seems an appropriate, prior task.
If you are interested to know more, why not come along to a one-day multi-disciplinary symposium The Future, Genetics and Primary Care organised by the Scottish Scool on 5th February 2004 in Glasgow. For further information and a booking form, please contact Denise Needham; deniseneedham@nes.scot.nhs.uk or 0131 651 4013 or download a booking form from our website at www.sspc.uk.com.
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