title: Genetic testing for maturity onset diabetes of the young: uptake, attitudes and comparison with hereditary non-polyposis colorectal cancer.
abstract: OBJECTIVE
  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 non-polyposis 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 non-diabetic 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.
authors.affiliation: Department of Medicine, Helsinki University Hospital, Helsinki, Finland. brita.liljestrom@hus.fi
authors.forename: B
authors.initials: B
authors.lastname: Liljeström
authors.forename: K
authors.initials: K
authors.lastname: Aktan-Collan
authors.forename: B
authors.initials: B
authors.lastname: Isomaa
authors.forename: L
authors.initials: L
authors.lastname: Sarelin
authors.forename: A
authors.initials: A
authors.lastname: Uutela
authors.forename: L
authors.initials: L
authors.lastname: Groop
authors.forename: H
authors.initials: H
authors.lastname: Kääriäinen
authors.forename: T
authors.initials: T
authors.lastname: Tuomi
mesh_terms: D000328:Adult; D000367:Age Factors; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D004522:Educational Status; D005260:Female; D005387:Finland; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008297:Male; D017533:Marital Status; D009679:Nuclear Family; D015203:Reproducibility of Results