Genet Med. 2016 Feb;18(2):207-8. doi: 10.1038/gim.2015.190. Epub 2015 Dec 17.
These recommendations are designed primarily as an educational resource for medical geneticists and other health-care providers to help them provide quality medical genetics services. Adherence to these recommendations does not necessarily assure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, geneticists and other clinicians should apply their own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from the recommendations.
这些建议主要是作为医学遗传学家和其他医疗服务提供者的教育资源,以帮助他们提供高质量的医学遗传学服务。遵循这些建议并不一定能确保医疗结果成功。这些建议不应被视为涵盖所有适当的程序和测试,也不应排除合理用于获得相同结果的其他程序和测试。在确定任何特定程序或测试的适当性时,遗传学家和其他临床医生应根据个体患者或标本所呈现的具体临床情况运用自己的专业判断。然而,对于任何与建议有重大偏差的情况,在患者记录中记录其理由可能是明智的。