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

Liljestrom, B; Aktan-Collan, K; Isomaa, B; Sarelin, L; Uutela, A; Groop, Leif LU ; Kaariainen, H and Tuomi, T (2005) In Diabetologia 48(2). p.242-250
Abstract
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
test uptake and, satisfaction, hereditary non-polyposis colorectal cancer (HNPPC), genetic testing, maturity onset diabetes of the young (MODY3)
in
Diabetologia
volume
48
issue
2
pages
242 - 250
publisher
Springer Verlag
external identifiers
  • pmid:15660263
  • wos:000227446900007
  • scopus:17544379409
ISSN
1432-0428
DOI
10.1007/s00125-004-1629-7
language
English
LU publication?
yes
id
29e92327-5c78-4702-9661-80a3c1c1153a (old id 250019)
date added to LUP
2007-08-14 09:50:58
date last changed
2017-01-01 04:31:21
@article{29e92327-5c78-4702-9661-80a3c1c1153a,
  abstract     = {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.},
  author       = {Liljestrom, B and Aktan-Collan, K and Isomaa, B and Sarelin, L and Uutela, A and Groop, Leif and Kaariainen, H and Tuomi, T},
  issn         = {1432-0428},
  keyword      = {test uptake and,satisfaction,hereditary non-polyposis colorectal cancer (HNPPC),genetic testing,maturity onset diabetes of the young (MODY3)},
  language     = {eng},
  number       = {2},
  pages        = {242--250},
  publisher    = {Springer Verlag},
  series       = {Diabetologia},
  title        = {Genetic testing for maturity onset diabetes of the young: uptake, attitudes and comparison with hereditary non-polyposis colorectal cancer},
  url          = {http://dx.doi.org/10.1007/s00125-004-1629-7},
  volume       = {48},
  year         = {2005},
}