Article Text

Download PDFPDF
Advances in genetics: what are the benefits for patients?
  1. A Munnich

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    What are the benefits of progress in genetics for patients? The answer of the lay person will certainly be: “gene therapy and therapeutic cloning”. Our contemporaries, fascinated by these futuristic prospects, tend to ignore the growth of currently available conventional treatments and the impact of symptomatic management on quality of life and life expectancy of patients with genetic diseases. This is due to a problem of oversimplification of information presented by the media, in which fashion is more important than function and the sensational more important than objective information. In this report, I have tried to establish honestly the inventory of what is already possible. In the light of several examples, let us "render under Caesar what is Caesar’s" and try to establish whether replacement of a gene (the identification of which is essential for the understanding of a disease) is truly the universal panacea for the treatment of genetic diseases it is proposed to be.

    The first point to remember is that several genetic diseases were already treated long before the age of molecular genetics. We did not have to wait for cloning of the phenylalanine hydroxylase gene to treat phenylketonuria by a low protein diet. I would even go so far as to say that molecular genetics has had virtually no impact on the treatment of this disease. However, since the 1970s, more than 20 million French infants have been tested at birth for this disease (without knowing it) and 7000 of these, detected and treated early, have avoided mental retardation and are now healthy …

    View Full Text


    • Published Online First 9 December 2005

    • Competing interests: there are no competing interests.