在唐氏综合征多学科诊所引入遗传学家可增强对遗传咨询的重视。
Integrating a Geneticist in a Multidisciplinary Clinic for Down Syndrome Increases Commitment to Genetic Counseling.
作者信息
Santoro Stephanie L, Jacobson Theodora, Lemle Stephanie, Bartman Thomas
机构信息
Division of Genetics, Nationwide Children's Hospital, Columbus, Ohio; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio; Quality Improvement Services, Nationwide Children's Hospital, Columbus, Ohio; and Director of Quality Improvement, Neonatal Services, Nationwide Children's Hospital, Columbus, Ohio.
出版信息
Pediatr Qual Saf. 2017 Aug 25;2(5):e039. doi: 10.1097/pq9.0000000000000039. eCollection 2017 Sep-Oct.
BACKGROUND
Although most physicians and genetic professionals are familiar with Down syndrome, many families do not have experience with Down syndrome before having a child diagnosed. The American Academy of Pediatrics has specific recommendations for genetic counseling and chromosome analysis for Down syndrome.
LOCAL PROBLEM
The literature indicates that adherence to completion of appropriately timed genetic counseling is low at 31%. This study was initiated to determine our adherence rates and to improve if needed.
METHODS
In the Down syndrome clinic at Nationwide Children's Hospital, a subspecialty clinic in the Division of Developmental and Behavioral Pediatrics, a genetic counselor was on-call but did not routinely attend. The intervention consisted of multidisciplinary care with the presence of a clinical geneticist. Statistical Process Control Charts and Fisher's exact test were used to determine the impact of the intervention.
RESULTS
Our baseline rate of adherence to genetic counseling was similar to previous publications. Direct genetics involvement in the Down syndrome clinic in place of an on-call genetic counselor led to significant improvement in adherence to genetic counseling recommendations over a 6-month period from 35% to 62%, < 0.001 and sustained for 6 months. Postclinic adherence rates and subanalyses by age showed similar results. The final postvisit adherence rate of 89% in February 2017 demonstrates continued improvement. Geneticist involvement allowed chromosome reports uploading and karyotype listing in electronic medical records.
IMPLICATIONS AND LESSONS LEARNED
Genetic counseling in newborns with Down syndrome is important, yet was often not received at Nationwide Children's Hospital before this study. Integrating a geneticist resulted in improvement. Implementing similar models at other institutions can ensure that the correct genetic testing is completed, results documented and families counseled appropriately.
背景
尽管大多数医生和遗传学专业人员都熟悉唐氏综合征，但许多家庭在孩子被诊断出患有唐氏综合征之前并没有相关经历。美国儿科学会对唐氏综合征的遗传咨询和染色体分析有具体建议。
当地问题
文献表明，按时完成适当的遗传咨询的依从率较低，为31%。开展这项研究是为了确定我们的依从率，并在需要时加以改善。
方法
在全国儿童医院的唐氏综合征诊所（发育与行为儿科学科的一个专科诊所），有一名遗传咨询师随叫随到，但并非常规出诊。干预措施包括由一名临床遗传学家参与的多学科护理。使用统计过程控制图和费舍尔精确检验来确定干预的影响。
结果
我们遗传咨询的基线依从率与之前的出版物相似。由直接的遗传学专业人员代替随叫随到的遗传咨询师参与唐氏综合征诊所的工作，使得在6个月的时间里，遗传咨询建议的依从率从35%显著提高到62%，P<0.001，并且持续了6个月。诊后依从率以及按年龄进行的亚分析显示了类似的结果。2017年2月最终的诊后依从率达到89%，表明持续改善。遗传学家的参与使得染色体报告能够上传，并在电子病历中列出核型。
启示与经验教训
唐氏综合征新生儿的遗传咨询很重要，但在本研究之前，全国儿童医院常常没有提供这种咨询。纳入一名遗传学家带来了改善。在其他机构实施类似模式可以确保完成正确的基因检测、记录结果并为家庭提供适当的咨询。
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