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Molecular genetics in gastroenterology: from research success to clinical application?

Nature Clinical Practice Gastroenterology & Hepatology volume 2, pages 118–119 (2005)Cite this article

Throughout clinical medicine, recent progress in molecular genetics has provided critical insights into disease pathogenesis, guiding basic research into previously unforeseen areas. There are many examples of this success in gastroenterology and hepatology, from hereditary hemorrhagic telangiectasia,1for which mutations in two different receptors in the TGF-β signaling system have been implicated by gene mapping, to hereditary hemochromatosis,2 familial pancreatitis,3 hereditary nonpolyposis colon cancer (HNPCC)4 and Crohn's disease,5 in which attention has switched to the regulation of the innate immune system and contribution of pathogen-associated molecular peptides.

Such discoveries have raised physicians' and patients' expectations, particularly with respect to molecular genetic testing, but translating scientific progress to patient care needs careful evaluation. In specialist clinical genetics clinics, protocols have been developed to ensure responsible molecular testing and detailed genetic counseling in fully penetrant single-gene disorders, however, specialists in other disciplines, such as gastroenterology and hepatology, perhaps remain less familiar with all of the complex issues surrounding genetic testing. Several criteria must be satisfied for any genetic test before its application in clinical medicine. The test should ideally address a reversible risk, and thereby lead to a clinically useful outcome; be socially and ethically acceptable to the individuals undergoing testing; have sufficient sensitivity and specificity; and be implementable and cost effective.

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Authors and Affiliations

  1. Division of Community Health Sciences,

    Jack Satsangi, Harry Campbell & Malcolm G Dunlop

  2. University of Edinburgh, UK

    Jack Satsangi, Harry Campbell & Malcolm G Dunlop

  3. Reader in Clinical Genetics at the University of Edinburgh, and Director of the South East Scotland Genetic Service, Western General Hospital, University of Edinburgh, UK

    Mary EM Porteous

Authors
  1. Jack Satsangi
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  2. Harry Campbell
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  3. Malcolm G Dunlop
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  4. Mary EM Porteous
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Corresponding author

Correspondence to Jack Satsangi.

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Glossary

COMPOUND HETEROZYGOTES

People who carry two different variant forms of a gene, one on each chromosome

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Satsangi, J., Campbell, H., Dunlop, M. et al. Molecular genetics in gastroenterology: from research success to clinical application?. Nat Rev Gastroenterol Hepatol 2, 118–119 (2005). https://doi.org/10.1038/ncpgasthep0114

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