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. 1991 Feb;37:394–400.

Presymptomatic Diagnosis of Genetic Disorders

Is it worth the anxiety?

Terry N Tannenbaum, Ellen E Rosenberg
PMCID: PMC2145256  PMID: 21228988

Abstract

Through recent advances in DNA technology, presymptomatic diagnosis of several genetic disorders is now possible. This technology can determine whether an at-risk individual is at greatly increased risk of having inherited the gene for a particular disorder many years before symptoms are expected to occur. To provide effective care, the family physician must be aware of the potential benefits and risks of presymptomatic testing.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Antonarakis S. E. Diagnosis of genetic disorders at the DNA level. N Engl J Med. 1989 Jan 19;320(3):153–163. doi: 10.1056/NEJM198901193200305. [DOI] [PubMed] [Google Scholar]
  2. Bloom J. R., Monterossa S. Hypertension labeling and sense of well-being. Am J Public Health. 1981 Nov;71(11):1228–1232. doi: 10.2105/ajph.71.11.1228. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Bodmer W. F., Bailey C. J., Bodmer J., Bussey H. J., Ellis A., Gorman P., Lucibello F. C., Murday V. A., Rider S. H., Scambler P. Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature. 1987 Aug 13;328(6131):614–616. doi: 10.1038/328614a0. [DOI] [PubMed] [Google Scholar]
  4. Brandt J., Quaid K. A., Folstein S. E., Garber P., Maestri N. E., Abbott M. H., Slavney P. R., Franz M. L., Kasch L., Kazazian H. H., Jr Presymptomatic diagnosis of delayed-onset disease with linked DNA markers. The experience in Huntington's disease. JAMA. 1989 Jun 2;261(21):3108–3114. [PubMed] [Google Scholar]
  5. DiLella A. G., Marvit J., Lidsky A. S., Güttler F., Woo S. L. Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. 1986 Aug 28-Sep 3Nature. 322(6082):799–803. doi: 10.1038/322799a0. [DOI] [PubMed] [Google Scholar]
  6. Egeland J. A., Gerhard D. S., Pauls D. L., Sussex J. N., Kidd K. K., Allen C. R., Hostetter A. M., Housman D. E. Bipolar affective disorders linked to DNA markers on chromosome 11. 1987 Feb 26-Mar 4Nature. 325(6107):783–787. doi: 10.1038/325783a0. [DOI] [PubMed] [Google Scholar]
  7. Fletcher J. C., Berg K., Tranøy K. E. Ethical aspects of medical genetics. A proposal for guidelines in genetic counseling, prenatal diagnosis and screening. Clin Genet. 1985 Feb;27(2):199–205. [PubMed] [Google Scholar]
  8. Goate A. M., Haynes A. R., Owen M. J., Farrall M., James L. A., Lai L. Y., Mullan M. J., Roques P., Rossor M. N., Williamson R. Predisposing locus for Alzheimer's disease on chromosome 21. Lancet. 1989 Feb 18;1(8634):352–355. doi: 10.1016/s0140-6736(89)91725-x. [DOI] [PubMed] [Google Scholar]
  9. Gusella J. F., Wexler N. S., Conneally P. M., Naylor S. L., Anderson M. A., Tanzi R. E., Watkins P. C., Ottina K., Wallace M. R., Sakaguchi A. Y. A polymorphic DNA marker genetically linked to Huntington's disease. Nature. 1983 Nov 17;306(5940):234–238. doi: 10.1038/306234a0. [DOI] [PubMed] [Google Scholar]
  10. Halloran K. H., Hsia E., Rosenberg L. E. Genetic counseling for congenital heart disease. J Pediatr. 1976 Jun;88(6):1054–1056. doi: 10.1016/s0022-3476(76)81076-1. [DOI] [PubMed] [Google Scholar]
  11. Hayden M. R., Robbins C., Allard D., Haines J., Fox S., Wasmuth J., Fahy M., Bloch M. Improved predictive testing for Huntington disease by using three linked DNA markers. Am J Hum Genet. 1988 Nov;43(5):689–694. [PMC free article] [PubMed] [Google Scholar]
  12. Haynes R. B., Sackett D. L., Taylor D. W., Gibson E. S., Johnson A. L. Increased absenteeism from work after detection and labeling of hypertensive patients. N Engl J Med. 1978 Oct 5;299(14):741–744. doi: 10.1056/NEJM197810052991403. [DOI] [PubMed] [Google Scholar]
  13. Hill E. M., Wilson A. F., Elston R. C., Winokur G. Evidence for possible linkage between genetic markers and affective disorders. Biol Psychiatry. 1988 Dec;24(8):903–917. doi: 10.1016/0006-3223(88)90225-9. [DOI] [PubMed] [Google Scholar]
  14. Hodgkinson S., Sherrington R., Gurling H., Marchbanks R., Reeders S., Mallet J., McInnis M., Petursson H., Brynjolfsson J. Molecular genetic evidence for heterogeneity in manic depression. 1987 Feb 26-Mar 4Nature. 325(6107):805–806. doi: 10.1038/325805a0. [DOI] [PubMed] [Google Scholar]
  15. Johnston M. E., Gibson E. S., Terry C. W., Haynes R. B., Taylor D. W., Gafni A., Sicurella J. I., Sackett D. L. Effects of labelling on income, work and social function among hypertensive employees. J Chronic Dis. 1984;37(6):417–423. doi: 10.1016/0021-9681(84)90025-0. [DOI] [PubMed] [Google Scholar]
  16. Kennedy J. L., Giuffra L. A., Moises H. W., Cavalli-Sforza L. L., Pakstis A. J., Kidd J. R., Castiglione C. M., Sjogren B., Wetterberg L., Kidd K. K. Evidence against linkage of schizophrenia to markers on chromosome 5 in a northern Swedish pedigree. Nature. 1988 Nov 10;336(6195):167–170. doi: 10.1038/336167a0. [DOI] [PubMed] [Google Scholar]
  17. Kessler S., Field T., Worth L., Mosbarger H. Attitudes of persons at risk for Huntington disease toward predictive testing. Am J Med Genet. 1987 Feb;26(2):259–270. doi: 10.1002/ajmg.1320260204. [DOI] [PubMed] [Google Scholar]
  18. Markel D. S., Young A. B., Penney J. B. At-risk persons' attitudes toward presymptomatic and prenatal testing of Huntington disease in Michigan. Am J Med Genet. 1987 Feb;26(2):295–305. doi: 10.1002/ajmg.1320260207. [DOI] [PubMed] [Google Scholar]
  19. Mastromauro C., Myers R. H., Berkman B. Attitudes toward presymptomatic testing in Huntington disease. Am J Med Genet. 1987 Feb;26(2):271–282. doi: 10.1002/ajmg.1320260205. [DOI] [PubMed] [Google Scholar]
  20. McGuffin P. Major genes for major affective disorder? Br J Psychiatry. 1988 Nov;153:591–596. doi: 10.1192/bjp.153.5.591. [DOI] [PubMed] [Google Scholar]
  21. Meissen G. J., Berchek R. L. Intended use of predictive testing by those at risk for Huntington disease. Am J Med Genet. 1987 Feb;26(2):283–293. doi: 10.1002/ajmg.1320260206. [DOI] [PubMed] [Google Scholar]
  22. Meissen G. J., Myers R. H., Mastromauro C. A., Koroshetz W. J., Klinger K. W., Farrer L. A., Watkins P. A., Gusella J. F., Bird E. D., Martin J. B. Predictive testing for Huntington's disease with use of a linked DNA marker. N Engl J Med. 1988 Mar 3;318(9):535–542. doi: 10.1056/NEJM198803033180903. [DOI] [PubMed] [Google Scholar]
  23. Mossey J. M. Psychosocial consequences of labelling in hypertension. Clin Invest Med. 1981;4(3-4):201–207. [PubMed] [Google Scholar]
  24. Reeders S. T., Breuning M. H., Corney G., Jeremiah S. J., Meera Khan P., Davies K. E., Hopkinson D. A., Pearson P. L., Weatherall D. J. Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16. Br Med J (Clin Res Ed) 1986 Mar 29;292(6524):851–853. doi: 10.1136/bmj.292.6524.851. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Reeders S. T., Breuning M. H., Davies K. E., Nicholls R. D., Jarman A. P., Higgs D. R., Pearson P. L., Weatherall D. J. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature. 1985 Oct 10;317(6037):542–544. doi: 10.1038/317542a0. [DOI] [PubMed] [Google Scholar]
  26. Russell D. W., Lehrman M. A., Südhof T. C., Yamamoto T., Davis C. G., Hobbs H. H., Brown M. S., Goldstein J. L. The LDL receptor in familial hypercholesterolemia: use of human mutations to dissect a membrane protein. Cold Spring Harb Symp Quant Biol. 1986;51(Pt 2):811–819. doi: 10.1101/sqb.1986.051.01.094. [DOI] [PubMed] [Google Scholar]
  27. Sherrington R., Brynjolfsson J., Petursson H., Potter M., Dudleston K., Barraclough B., Wasmuth J., Dobbs M., Gurling H. Localization of a susceptibility locus for schizophrenia on chromosome 5. Nature. 1988 Nov 10;336(6195):164–167. doi: 10.1038/336164a0. [DOI] [PubMed] [Google Scholar]
  28. St George-Hyslop P. H., Tanzi R. E., Polinsky R. J., Haines J. L., Nee L., Watkins P. C., Myers R. H., Feldman R. G., Pollen D., Drachman D. The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science. 1987 Feb 20;235(4791):885–890. doi: 10.1126/science.2880399. [DOI] [PubMed] [Google Scholar]

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