Abstract
Clinical molecular genetics has recently become recognized as a diagnostic discipline. This article covers the evolution, structure, and possible forward development of clinical molecular genetics. Topics covered include general test categories, introducing new tests, laboratory facilities, staffing and training, and overview of quality issues.
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Harris, R., Elles, R., Crauburd, D., Dodge, A., Ivinson, A., Hodgkinson, K., Mountford, R., Schwarz, M., Strachan, T., and Read, A. P. (1989) Molecular genetics in the National Health Service in Britain.J. Med. Genet. 26, 219–225.
Rona, R. J., Swan, A. V., and Beech, R. (1992) DNA probe technology: implications for service planning in Britain.Clin. Genet. 42, 186–195.
Tyler, A., Ball, D., Crauturd, D., et al. (1992) Presymptomatic testing for Huntington’s disease in the United Kingdom.Br. Med. J. 304, 1593–1596.
MacDonald F., Morton, D. G., Rindl, P. M., Haydon, J., Cullen, R., Gibson, J., Neoptomelos, J. P., Keighley, M. R., McKeown, C., and Hulten, M. (1992) predictive diagnosis of familial adenomatous polyposis with linked DNA markers: population based study.Br. Med. J. 304, 869–872.
Elles, R. G., Hodgkinson, K. A., Mallick, N. P., O’Donoghue, D. J., Read, A. P., Rimmer, S., Watters, E. A., and Harris, R. (1994) Diagnosis of adult polycystic kidney disease by genetic markers and ultra-sonographic imaging in a voluntary family register.J. Med. Genet. 31, 115–120.
Read, A. P., Kerzin-Storrar, L., Mountford, R. C., Wiles, R. G., and Harris, R. (1986) A register based system for gene tracking in Duchenne muscular dystrophy.J. Med. Genet. 23, 581–586.
Yates, J., Malcolm, S., and Read, A. P. (1989) Guidelines for DNA banking: report of a working party of the Clinical Genetics Society.J. Med. Genet. 26, 245–250.
Andrews, L. G., Fullarton, J. E., Holtzman, N. A., and Motulsky, A. G. (eds.) (1994)Assessing Genetics Risks: Implications for Health and Social Policy. National Academy Press, Washington, DC.
Cuppens, H. and Cassimans, J. J. (1995) for the European concerted action on Cystic Fibrosis: a quality control study of CFTR mutation screening in 40 different European laboratories.E. J. Hum. Genet. 3, 235–245.
Barton, D. (ed.) (1997)The Clinical Molecular Genetics Society: Molecular Genetics Service Guidelines. UK Molecular Genetics NEQAS Steering Committee, Newcastle/Dublin.
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Elles, R. An overview of clinical molecular genetics. Mol Biotechnol 8, 95–104 (1997). https://doi.org/10.1007/BF02752254
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DOI: https://doi.org/10.1007/BF02752254