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. 1996 Jul;33(7):540–543. doi: 10.1136/jmg.33.7.540

Attitudes to predictive DNA testing in familial adenomatous polyposis.

S Whitelaw 1, J M Northover 1, S V Hodgson 1
PMCID: PMC1050659  PMID: 8818937

Abstract

Attitudes to predictive DNA testing for familial adenomatous polyposis were documented in 62 affected adults. Patient views on prenatal testing and termination of pregnancy for this disorder were sought, as were opinions on the most suitable age to offer predictive testing for at risk children and the most appropriate age to begin screening. While 15 (24%) of those questioned stated that they would proceed to termination of pregnancy if a prenatal test indicated that the unborn baby was affected, in clinical practice no one has yet requested this option. Six (10%) people who had refrained from having children for fear of passing on the polyposis gene felt that the arrival of prenatal testing would enable them to consider planning a family. The majority of patients (93%) said they would like their children tested by DNA analysis at birth or in infancy, but felt that 10 to 12 years was the most appropriate time to discuss the diagnosis with the child.

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Selected References

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  1. Adam S., Wiggins S., Whyte P., Bloch M., Shokeir M. H., Soltan H., Meschino W., Summers A., Suchowersky O., Welch J. P. Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment. J Med Genet. 1993 Jul;30(7):549–556. doi: 10.1136/jmg.30.7.549. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Bamberger N., Capron L., Fiessinger J. N. Leg ulcers of juvenile onset. Lancet. 1991 May 11;337(8750):1172–1173. doi: 10.1016/0140-6736(91)92850-2. [DOI] [PubMed] [Google Scholar]
  3. Burn J., Chapman P., Delhanty J., Wood C., Lalloo F., Cachon-Gonzalez M. B., Tsioupra K., Church W., Rhodes M., Gunn A. The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations. J Med Genet. 1991 May;28(5):289–296. doi: 10.1136/jmg.28.5.289. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Bülow S. Incidence of associated diseases in familial polyposis coli. Semin Surg Oncol. 1987;3(2):84–87. doi: 10.1002/ssu.2980030207. [DOI] [PubMed] [Google Scholar]
  5. Cottrell S., Bicknell D., Kaklamanis L., Bodmer W. F. Molecular analysis of APC mutations in familial adenomatous polyposis and sporadic colon carcinomas. Lancet. 1992 Sep 12;340(8820):626–630. doi: 10.1016/0140-6736(92)92169-g. [DOI] [PubMed] [Google Scholar]
  6. Domizio P., Talbot I. C., Spigelman A. D., Williams C. B., Phillips R. K. Upper gastrointestinal pathology in familial adenomatous polyposis: results from a prospective study of 102 patients. J Clin Pathol. 1990 Sep;43(9):738–743. doi: 10.1136/jcp.43.9.738. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Eckert W. A., Jung C., Wolff G. Presymptomatic diagnosis in families with adenomatous polyposis using highly polymorphic dinucleotide CA repeat markers flanking the APC gene. J Med Genet. 1994 Jun;31(6):442–447. doi: 10.1136/jmg.31.6.442. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Groden J., Thliveris A., Samowitz W., Carlson M., Gelbert L., Albertsen H., Joslyn G., Stevens J., Spirio L., Robertson M. Identification and characterization of the familial adenomatous polyposis coli gene. Cell. 1991 Aug 9;66(3):589–600. doi: 10.1016/0092-8674(81)90021-0. [DOI] [PubMed] [Google Scholar]
  9. 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]
  10. Northover J. M., Murday V. Familial colorectal cancer and familial adenomatous polyposis. Baillieres Clin Gastroenterol. 1989 Jul;3(3):593–613. doi: 10.1016/0950-3528(89)90019-5. [DOI] [PubMed] [Google Scholar]
  11. Polkinghorne P. J., Ritchie S., Neale K., Schoeppner G., Thomson J. P., Jay B. S. Pigmented lesions of the retinal pigment epithelium and familial adenomatous polyposis. Eye (Lond) 1990;4(Pt 1):216–221. doi: 10.1038/eye.1990.29. [DOI] [PubMed] [Google Scholar]
  12. Tibben A., Niermeijer M. F., Roos R. A., Vegter van de Vlis M., Frets P. G., van Ommen G. J., van de Kamp J. J., Verhage F. Understanding the low uptake of presymptomatic DNA testing for Huntington's disease. Lancet. 1992 Dec 5;340(8832):1416–1416. doi: 10.1016/0140-6736(92)92610-r. [DOI] [PubMed] [Google Scholar]

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