{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T18:14:35Z","timestamp":1765476875265,"version":"3.48.0"},"reference-count":13,"publisher":"BMJ","issue":"6652","license":[{"start":{"date-parts":[[1988,10,1]],"date-time":"1988-10-01T00:00:00Z","timestamp":591667200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.bmj.com\/company\/legal-information\/terms-conditions\/legal-information\/tdm-licencepolicy"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ"],"published-print":{"date-parts":[[1988,10,1]]},"abstract":"<jats:p>The development of a molecular genetics diagnostic service over a three year period was studied in a National Health Service region with a population of three million. Starting from a time when few diagnostic applications were possible, the number of disorders and the overall demand had grown rapidly. Conditions for which molecular genetic diagnosis had been provided included Duchenne and Becker muscular dystrophy, myotonic dystrophy, Huntington's disease, and cystic fibrosis. Of 405 requests for diagnosis, 151 (37%) related to determination of carrier state, 187 (46%) to determining the feasibility of future prenatal diagnosis, and 67 (17%) were prenatal diagnostic biopsy samples, almost exclusively of first trimester chorion. DNA samples for future diagnostic use with a wide range of genetic disorders had also been banked. The study showed a need for close integration with clinical genetics services to allow satisfactory genetic counselling and interpretation of risks.<\/jats:p>","DOI":"10.1136\/bmj.297.6652.843","type":"journal-article","created":{"date-parts":[[2009,4,2]],"date-time":"2009-04-02T15:19:55Z","timestamp":1238685595000},"page":"843-846","source":"Crossref","is-referenced-by-count":8,"title":["Molecular genetics in clinical practice: evolution of a DNA diagnostic service."],"prefix":"10.1136","volume":"297","author":[{"given":"A. L.","family":"Meredith","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Upadhyaya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. 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Nature 1982;300:69-71.","journal-title":"Nature"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1136\/jmg.20.4.252","article-title":"The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy","volume":"20","author":"Harper, P.S.; O'Brien, T.; Murray, J.M.; Davies, K.E.; Pearson, P.; Williamson, R.","year":"1983","unstructured":"Harper PS, O'Brien T, Murray JM, Davies KE, Pearson P, Williamson R. The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy.JMed Genet 1983;20:252-4.","journal-title":"JMed Genet"},{"key":"ref_4","first-page":"1281","article-title":"Exclusion testing for Huntington's disease in pregnancy with a closely linked DNA marker","volume":"i:","author":"Quarrell, O.W.J.; Tyler, A.; Upadhyaya, M.; Meredith, A.L.; Youngman, S.; Harper, P.S.","year":"1987","unstructured":"Quarrell OWJ, Tyler A, Upadhyaya M, Meredith AL, Youngman S, Harper PS. Exclusion testing for Huntington's disease in pregnancy with a closely linked DNA marker. Lancet 1987;i:1281-3.","journal-title":"Lancet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1136\/adc.61.3.218","article-title":"The use offlanking markers in prediction for Duchenne muscular dystrophy","volume":"61","author":"Williams, H.; Sarfarazi, M.; Brown, C.; Thomas, N.; Harper, P.S.","year":"1986","unstructured":"Williams H, Sarfarazi M, Brown C, Thomas N, Harper PS. The use offlanking markers in prediction for Duchenne muscular dystrophy. Arch Dis Child 1986;61:218-22.","journal-title":"Arch Dis Child"},{"key":"ref_6","first-page":"255","article-title":"Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X-chromosome","volume":"4","author":"Kingston, H.M.; Thomas, N.S.T.; Pearson, P.L.; Sarfarazi, M.; Harper, P.S.","year":"1983","unstructured":"Kingston HM, Thomas NST, Pearson PL, Sarfarazi M, Harper PS. Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X-chromosome.J Med Genet 1983;4:255-8.","journal-title":"J Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1294","DOI":"10.1016\/S0140-6736(87)91192-5","article-title":"Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy","volume":"ii:","author":"Forrest, S.M.; Cross, G.S.; Thomas, N.S.T.","year":"1987","unstructured":"Forrest SM, Cross GS, Thomas NST, et al. Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy. Lancet 1987;ii: 1294-7.","journal-title":"Lancet"},{"key":"ref_8","first-page":"1353","article-title":"Application of-a closely linked polymorphism of restriction fragment length to counselling and prenatal testing in families with myotonic dystrophy","volume":"293","author":"Meredith, A.L.; Huson, S.M.; Lunt, P.W.","year":"1986","unstructured":"Meredith AL, Huson SM, Lunt PW, et al. Application of-a closely linked polymorphism of restriction fragment length to counselling and prenatal testing in families with myotonic dystrophy. BrMedJ 1986;293:1353-6.","journal-title":"BrMedJ"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1038\/318384a0","article-title":"Localisation of cystic fibrosis locus to human chromosome 7 cen-q22","volume":"318","author":"Wainwright, B.J.; Scambler, P.J.; Schmidtke, J.; etal","year":"1985","unstructured":"Wainwright BJ, Scambler PJ, Schmidtke J, etal. Localisation of cystic fibrosis locus to human chromosome 7 cen-q22. Nature 1985;318:384-5.","journal-title":"Nature"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1038\/326840a0","article-title":"A candidate for the cystic fibrosis locus isolated by selection for methylation free islands","volume":"326","author":"Estivill, X.; Farral, M.; Scambler, P.; etal","year":"1987","unstructured":"Estivill X, Farral M, Scambler P, etal. A candidate for the cystic fibrosis locus isolated by selection for methylation free islands. Nature 1987;326:840-5.","journal-title":"Nature"},{"key":"ref_11","first-page":"1356","article-title":"Simple non-invasive method to obtain DNA for gene analysis","volume":"i:","author":"Lench, N.; Stanier, P.; Williamson, R.","year":"1988","unstructured":"Lench N, Stanier P, Williamson R. Simple non-invasive method to obtain DNA for gene analysis. Lancet 1988;i: 1356-8.","journal-title":"Lancet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1136\/jmg.19.4.241","article-title":"A genetic register for Huntington's chorea in south Wales","volume":"19","author":"HarperPS, Tyler A.; S, Smith; P, Jones; RG, Newcombe; V, McBroom","year":"1982","unstructured":"HarperPS, Tyler A, Smith S, Jones P, Newcombe RG, McBroom V. A genetic register for Huntington's chorea in south Wales. 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