Putting the genetics genie back into its bottleBMJ 2001; 322 doi: https://doi.org/10.1136/bmj.322.7293.1070/a (Published 28 April 2001) Cite this as: BMJ 2001;322:1070
Genetics is rarely out of the headlines. Almost every day there is a new story either promising the earth or threatening the end of civilisation as we know it. When the “first draft” of the human genome was announced last June, Bill Clinton claimed that, for our children, “cancer would be the name for a cluster of stars in the sky.” More recently it has been alleged that letting insurance companies have access to the results of predictive DNA tests for Huntington's disease will be a body blow for research because people will no longer be willing to volunteer their samples. Pharmaceutical firms claim that the massive investment they have made in pharmacogenomics will lead to the right patients getting the right drugs at the right time.
We must urgently sort out the hype from the hypotheses
Looked at in the cold light of day most of this is tosh. If those benefits that are being realised today are to be of any use to non-specialist doctors, patients, and the families who support them, then we must urgently sort out the hype from the hypotheses.
For the foreseeable future the most obvious benefits from the new genetics will be for those with rare disorders that result from a mutation in a single gene. It is often more difficult than it needs to be for the families at risk of one of the 5000 or so of these single gene disorders to get access to a diagnosis. Clinical geneticists are in short supply in the NHS and services are too often underresourced and insufficiently coordinated. I hope that the new national specialist commissioning group will be able to get health authorities thinking strategically about service needs now and in the next few years so that access to a clear, understandable diagnosis is quick and efficient for those who need it.
In the medium term new drugs linked to DNA diagnostics may become more commonplace. There may also be better targeting of existing ones. But it will be many years before there is any chance of us all getting barcodes at birth with a profile that predicts our health and sickness throughout life, even if this becomes biologically and technologically feasible (both big ifs).
So let's get real about genetics. Let's focus on those it can help most now and build a firm foundation for future progress that is realistic, rational, and sustainable.