n CME : Your SA Journal of CPD - The Human Genome Project in clinical perspective : the emperor's new clothes? : main topic

Volume 23, Issue 1
  • ISSN : 0256-2170



Since all cellular development and function is controlled by our genetic make-up, it follows that our genome (all our DNA) has a fundamental influence on almost all human disease. <br>The Human Genome Project (HGP) aimed to produce the complete sequence of all the bases in all of human DNA, knowledge which should prove invaluable to the understanding of the pathogenesis and treatment of disease. <br>However, its output must be placed in context of current and future clinical practice. <br>Many recent genetic advances have come in spite of, or preceded, the publication of the human genome sequence in 2001. <br>The exact aetiology of some common genetic disorders has remained frustratingly elusive, despite knowledge of the full sequence of all human DNA. <br>Merely demonstrating an alteration of the sequence produced by the HGP is insufficient to explain human disease; complex genetic, protein and environmental interactions need to be elucidated to fully grasp the genetic underpinnings of disease. <br>By elucidating the basic genetic aetiology of disorders, targeted therapies may be designed, based on precise knowledge of abnormal physiology. <br>The HGP will have an ever-increasing impact on the understanding of common multifactorial disorders, in the rapid detection of disease-causing mutations and in determination of individual drug therapy.

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