Martin Jeffrey R, Wilikofsky Adam S
Lancaster General Hospital Family Practice Residency Program, 555 North Duke Street, Lancaster, PA 17604, USA.
Prim Care. 2004 Sep;31(3):509-24, viii-ix. doi: 10.1016/j.pop.2004.04.003.
Primary care clinicians have an essential role in genetic counseling.This role is distinct from the usual role of genetic counselors. First,primary care clinicans are often involved in the early stages of identifying who may benefit from genetic assessment, helping patients to decide when it is appropriate to pursue genetic information, and preparing them for consultation. Second, the styles of counseling and guidance common in generalist practice are different from the nondirective approach espoused in genetic counseling. Third, primary care clinicians often have a working knowledge of the patient's family, the context in which genetic information has its impact. They are likely to care for family members in addition to the identified patient,and may be well-positioned to adopt a family-based approach to managing genetic risk. Finally, primary care involves a longitudinal perspective, in which genetic information (the family history, for example) takes on new meaning and sometimes more urgency, as diseases progress, family members are newly diagnosed, and patients enter new phases of the life cycle. Patient continuity will play a pivotal role in the care and long-term management for individuals found to be at risk for genetic illness.
初级保健临床医生在遗传咨询中发挥着重要作用。这一角色与遗传咨询师的常规角色不同。首先,初级保健临床医生通常参与确定谁可能从遗传评估中受益的早期阶段,帮助患者决定何时适合获取遗传信息,并为他们的咨询做好准备。其次,全科医疗中常见的咨询和指导方式与遗传咨询中所支持的非指导性方法不同。第三,初级保健临床医生通常对患者的家庭以及遗传信息产生影响的背景有实际的了解。除了已确定的患者外,他们可能还会照顾家庭成员,并且可能处于采用基于家庭的方法来管理遗传风险的有利位置。最后,初级保健涉及纵向视角,随着疾病进展、家庭成员被新诊断出疾病以及患者进入生命周期的新阶段,遗传信息(例如家族病史)会具有新的意义,有时会变得更加紧迫。患者连续性将在被发现有遗传疾病风险的个体的护理和长期管理中发挥关键作用。