The browser you are using is not supported by this website. All versions of Internet Explorer are no longer supported, either by us or Microsoft (read more here: https://www.microsoft.com/en-us/microsoft-365/windows/end-of-ie-support).

Please use a modern browser to fully experience our website, such as the newest versions of Edge, Chrome, Firefox or Safari etc.

Genetic testing for maturity onset diabetes of the young: uptake, attitudes and comparison with hereditary non-polyposis colorectal cancer

På svenska

Author

  • B Liljestrom
  • K Aktan-Collan
  • B Isomaa
  • L Sarelin
  • A Uutela
  • Leif Groop
  • H Kaariainen
  • T Tuomi

Summary, in English

Aims/hypothesis: Mutations in hepatic nuclear factor 1alpha cause a monogenic form of diabetes, maturity onset diabetes of the young type 3 (MODY3). Our aim was 1) to assess the uptake of genetic testing for MODY3 and to determine factors affecting it, and ( 2) to compare attitudes to predictive genetic testing between families with MODY3 and a previously studied group at risk of hereditary nonpolyposis colorectal cancer (HNPCC). Methods: Adult members of two extended MODY3 pedigrees, either with diabetes or a 50% risk of having inherited the mutation (n = 144, age 18 - 60 years), were invited to an educational counselling session followed by a possibility to obtain the gene test result. Data were collected through questionnaires before counselling and 1 month after the test disclosure. Results: Eighty-nine out of 144 (62%) participated in counselling, and all but one wanted the test result disclosed. No significant sociodemographic differences were observed between the participants and non-participants. The counselling uptake was similar among diabetic and nondiabetic subjects. Uncertainty about the future and the risk for the children were the most common reasons to take the gene test. At follow-up, most subjects in both MODY3 (100%) and HNPCC (99%) families were satisfied with their decision to take the test and trusted the result. The majority of both diabetic and non-diabetic subjects considered that the MODY3 gene test should be offered either in childhood ( 50 and 37%) or as a teenager ( 30 and 37%). Conclusions: Genetic testing for MODY3 was well accepted among both diabetic and non-diabetic participants. The subjects found the gene test reliable and they were satisfied with their decision regarding the predictive test.

Publishing year

2005

Language

English

Pages

242-250

Publication/Series

Diabetologia

Volume

48

Issue

2

Document type

Journal article

Publisher

Springer

Topic

  • Endocrinology and Diabetes

Keywords

  • test uptake and
  • satisfaction
  • hereditary non-polyposis colorectal cancer (HNPPC)
  • genetic testing
  • maturity onset diabetes of the young (MODY3)

Status

Published

Research group

  • Genomics, Diabetes and Endocrinology

ISBN/ISSN/Other

  • ISSN: 1432-0428