Clinical genetics issues encountered by family physicians
Clinical genetics issues encountered by family physicians
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DOI：
10.1097/01.gim.0000177418.24176.9b
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发表时间：
2005-09-01
影响因子：
8.8
通讯作者：
Zyzanski, S
中科院分区：
文献类型：
--
作者：
Acheson, LS;Stange, KC;Zyzanski, S
目的：描述家庭医生遇到的遗传学相关的临床问题，以及他们向遗传学顾问提出的医疗问题。研究方法：问卷被邮寄给全国范围内随机抽样的498名执业家庭医生，询问他们在过去一年中与患者讨论19种家族或遗传疾病的遗传信息的次数，以及每种遗传疾病的家庭中有多少比例被转介进行遗传咨询。因子分析被用来分组的条件。结果：有效率为38%（n = 190）。受访者与非受访者相似，除了更多的是女性。大多数家庭医生报告说，在过去的一年里，他们与两个或两个以上的病人讨论了常见癌症、心血管疾病和阿尔茨海默病的遗传学。13%的人曾将乳腺癌和卵巢癌的遗传学评估转介给家庭，但只有两人因心血管疾病或痴呆症而转介遗传学。25%至50%的家庭医生曾在至少一个患有血红蛋白病、凝血障碍、血色素沉着症、精神疾病、视力丧失或耳聋、染色体异常、不孕或流产、先天性异常、精神发育迟滞和神经纤维瘤病的家庭中处理过遗传问题。大多数病例没有被转介给遗传学家。在受访者中，23%的人表示遗传学咨询很难获得或无法获得，18%的人列出了与进行遗传学诊断有关的伦理和社会困境。结论：在全国范围内，家庭医生解决各种遗传学问题的病人，最经常咨询遗传学家的围产期条件和家族性癌症。在农村地区，获得遗传咨询更为困难。这些数据可用于组织遗传学服务和规划初级保健临床医生的专业教育计划。
Purpose: To describe the genetics-related clinical issues encountered by family physicians, and the medical problems they referred to genetics consultants. Methods: Questionnaires were mailed to a nationwide, random sample of 498 practicing family physicians, asking how many times in the past year they discussed genetic information about 19 familial or genetic conditions with patients and what proportion of the families with each genetic condition were referred for genetics consultation. Factor analysis was used to group the conditions. Results: The response rate was 38% (n = 190). Respondents were similar to nonrespondents except that more werewomen. Most family physicians reported discussing the genetics of common cancers, cardiovascular disease, and Alzheimer's disease with two or more patients in the past year. Thirteen percent had referred families for genetics assessment of breast-ovarian cancer but only two made genetics referrals for cardiovascular disease or dementia. 25% to 50% of family physicians had addressed genetic issues in at least one family with hemoglobinopathy, a blood clotting disorder, hemochromatosis, mental illness, vision loss or deafness, chromosome abnormality, infertility or pregnancy loss, congenital anomalies, mental retardation, and neurofibromatosis. Most cases were not referred to geneticists. Of respondents, 23% said that genetics consultation is very difficult to obtain or unavailable and 18% listed ethical and social dilemmas related to pursuing genetic diagnosis. Conclusion: Nationwide, family physicians address a variety of genetics issues with patients, most frequently consulting geneticists for perinatal conditions and familial cancers. Access to genetics consultation is more difficult in rural areas. These data may be used in organizing genetics services and in planning professional education programs for primary care clinicians.