遗传学与遗传咨询：土耳其初级保健医生的实践与观点

Genetics and genetic counseling: practices and opinions of primary care physicians in Turkey.

作者信息

Tomatir Ayşe Gaye, Sorkun Hülya Cetin, Demirhan Huriye, Akdağ Beyza

机构信息

Department of Medical Biology, Pamukkale University Medical Faculty, Denizli, Turkey.

出版信息

Genet Med. 2007 Feb;9(2):130-5. doi: 10.1097/gim.0b013e3180306880.

DOI:10.1097/gim.0b013e3180306880

PMID:17304055

Abstract

PURPOSE

The purpose of this study was to assess the educational needs of physicians relating to genetics and genetic counseling in the Denizli region of Turkey.

METHODS

Data were collected by questionnaire about physicians' approaches to genetics and genetic counseling.

RESULTS

A total of 60 (60.0%) of 100 physicians working in Denizli province returned a questionnaire. Physicians described "their most knowledgeable subjects" in basic genetic information as chromosome abnormalities (41.8%), in genetic disorders as xeroderma pigmentosum (80.0%), and in genetic counseling as directing the parents of and couples with a risk for having a child affected by a genetic disease to an expert or a genetic counseling center (94.8%). Only 20.7% knew the ethical regulations and techniques related to genetic counseling. Physicians thought that they did not have sufficient knowledge about genetics or genetic counseling, and 83.9% would like to attend an educational course.

CONCLUSIONS

As a result of this study, a genetics course is planned for physicians so they can actively participate in the prevention and early diagnosis of genetic diseases.

摘要

目的

本研究旨在评估土耳其代尼兹利地区医生在遗传学和遗传咨询方面的教育需求。

方法

通过问卷调查收集医生对遗传学和遗传咨询的态度的数据。

结果

在代尼兹利省工作的100名医生中，共有60名（60.0%）回复了问卷。医生们将基本遗传信息中“他们最了解的主题”描述为染色体异常（41.8%），遗传性疾病中为着色性干皮病（80.0%），遗传咨询中为将患有遗传疾病风险的孩子的父母及夫妇转介给专家或遗传咨询中心（94.8%）。只有20.7%的人了解与遗传咨询相关的伦理规范和技术。医生们认为他们在遗传学或遗传咨询方面知识不足，83.9%的人希望参加教育课程。