Forrest Laura E, Burke Jo, Bacic Sonya, Amor David J
Murdoch Childrens Research Institute, The Royal Children's Hospital, Melbourne, Australia.
Genet Med. 2008 Mar;10(3):167-72. doi: 10.1097/GIM.0b013e318164540b.
To determine whether the provision of additional genetic counseling support could improve the uptake of genetic services by "at-risk" relatives of probands.
The Tasmanian Clinical Genetics Service implemented a specific counseling intervention to a cohort of patients who were diagnosed with a genetic condition with familial implications and compared this with a control cohort who had not experienced the specific counseling intervention. The study involved 150 family members in 19 different kindreds across the two cohorts. The principal outcome measure was the proportion of at-risk relatives who had made contact with the clinical genetics service within 2 years of the diagnosis in the index patient.
The proportion of at-risk relatives who made contact with the genetics service was 61% in the intervention cohort compared with 36% in the control cohort (P = 0.01). After controlling for the gender of the at-risk relatives, relatives in the intervention cohort were 2.6 times more likely to make contact with the genetics service (P = 0.02).
The provision of increased genetic counseling support significantly increased the proportion of at-risk relatives who made contact with the genetic service. This suggests that the communication of genetic information within families can be enhanced by the provision of increased genetic counseling support.
确定提供额外的遗传咨询支持是否能提高先证者“高危”亲属对遗传服务的接受程度。
塔斯马尼亚临床遗传学服务机构对一组被诊断患有具有家族遗传意义疾病的患者实施了特定的咨询干预,并将其与未经历该特定咨询干预的对照组进行比较。该研究涉及两个队列中19个不同家族的150名家庭成员。主要结局指标是高危亲属在索引患者诊断后2年内与临床遗传学服务机构取得联系的比例。
干预队列中与遗传学服务机构取得联系的高危亲属比例为61%,而对照组为36%(P = 0.01)。在控制高危亲属的性别后,干预队列中的亲属与遗传学服务机构取得联系的可能性是对照组的2.6倍(P = 0.02)。
提供更多的遗传咨询支持显著提高了与遗传服务机构取得联系的高危亲属比例。这表明通过提供更多的遗传咨询支持可以加强家族内遗传信息的交流。