摘要临床基因检测的结果在遗传分析环节由数据解读人员整理成一份规范的基因检测报告,提供给临床医师及受检者(若受检者有智力障碍或者为未成年人,则检测报告提供给其父母或法定监护人).检测报告的内容应遵循相关标准及/行业共识.临床医师将综合基因检测报告及临床指征进一步诊断其所患疾病.遗传咨询师应协助临床医师及受检者或其亲属,提供检测后的遗传咨询服务.在知情同意的前提下建立检测后的跟踪随访机制.数据应由临床医疗机构与第三方检测机构共享,补充的回访数据可以帮助进一步评估报告结果,因此检测机构应定期对既往的检测报告数据及后续的回访数据进行整理分析,并同新的分析结果同步提交给患者和医疗机构.所有涉及报告、遗传咨询、后续跟踪回访及分析结果更新的活动均应遵循相关的法律法规.

abstractsClinical genetic testing results are compiled into a standardized report by genetic specialists and provided to clinicians and patients (Should the patient be intellectually disabled or under 18,the report will be provided to his/her parents or legal guardians).The content of genetic testing report should conform to relevant guidelines,industry standards and consensus.The decisions of clinicians will be made based on the report and clinical indications.Genetic counselors should provide post-test counseling to clinicians and patients or their authorized family members.A mechanism of follow-up visit after the genetic testing should be established with informed consent.Data should be shared by clinical institutions and genome sequencing institutions.As findings upon follow-up visit can help with further evaluation of the results,genome sequencing institutions should regularly re-analyze historical and follow-up data,and the updated results should be shared with clinical institutions.All activities involving reporting,genetic counselling,follow-up visiting,and re-analyzing should follow the relevant guidelines and regulations.