Liljeström B, Aktan-Collan K, Isomaa B, Sarelin L, Uutela A, Groop L, Kääriäinen H, Tuomi T
Department of Medicine, Helsinki University Hospital, Helsinki, Finland.
Diabetologia. 2005 Feb;48(2):242-50. doi: 10.1007/s00125-004-1629-7. Epub 2005 Jan 20.
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 non-polyposis colorectal cancer (HNPCC).
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.
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%).
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.
目的/假设：肝细胞核因子1α突变会导致一种单基因形式的糖尿病，即青年发病的成年型糖尿病3型（MODY3）。我们的目的是：（1）评估MODY3基因检测的接受情况并确定影响其接受程度的因素；（2）比较MODY3家族与先前研究的遗传性非息肉病性结直肠癌（HNPCC）风险组对预测性基因检测的态度。
两个MODY3家系的成年成员，无论患有糖尿病还是有50%的概率遗传了该突变（n = 144，年龄18 - 60岁），被邀请参加一次教育咨询会，之后有可能获得基因检测结果。在咨询会前和检测结果披露后1个月通过问卷调查收集数据。
144人中有89人（62%）参加了咨询，除一人外所有人都希望得知检测结果。参与者和未参与者之间未观察到显著的社会人口统计学差异。糖尿病患者和非糖尿病患者的咨询参与率相似。对未来的不确定性以及孩子的患病风险是进行基因检测最常见的原因。随访时，MODY3家族（100%）和HNPCC家族（99%）的大多数受试者对自己进行检测的决定感到满意并相信检测结果。大多数糖尿病患者和非糖尿病患者都认为MODY3基因检测应在儿童期（分别为50%和37%）或青少年期（分别为30%和37%）进行。
MODY3基因检测在糖尿病患者和非糖尿病患者参与者中都得到了很好的接受。受试者认为基因检测可靠，并且对他们关于预测性检测的决定感到满意。
