Ginzburgh H M
Prim Care. 1975 Jun;2(2):221-33.
This paper has presented, in a rather concise and limited form, an outline of basic genetic principles which are necessary for the primary physician to provide good genetic counseling and good patient care. The assistance of a genetic center with prenatal diagnostic facilities allows consultation to proceed in a logical and constructive manner. The primary physician is in an excellent position to determine the pedigree, especially if he has the opportunity to examine the proband's immediate family and close relatives. The diagnosis may be easily made by the primary physician or it may require the combined efforts of the genetics clinic and the primary physician. In either case, the decision to terminate future pregnancies or to limit future offspring is made by the proband and his family, not the physician. The decision-making process may be affected by the primary physician who provides a sufficient amount of relevant information to his patients and allows them to reach a rational decision. Whether the decision appears rational to the physician or not, he must help his patients deal with it.
本文以相当简洁和有限的形式,概述了基础遗传学原理,这些原理是初级医生提供良好的遗传咨询和优质患者护理所必需的。拥有产前诊断设施的遗传中心的协助,能让咨询以合乎逻辑且富有建设性的方式进行。初级医生处于极佳的位置来确定系谱,尤其是当他有机会检查先证者的直系亲属和近亲时。诊断可能由初级医生轻松做出,也可能需要遗传学诊所和初级医生的共同努力。在任何一种情况下,终止未来妊娠或限制未来子女数量的决定都由先证者及其家人做出,而非医生。提供足够相关信息给患者并让他们做出理性决定的初级医生,可能会影响决策过程。无论该决定对医生而言是否看似合理,他都必须帮助患者应对。