Helm Benjamin M, Freeze Samantha L, Spoonamore Katherine G, Ware Stephanie M, Ayers Mark D, Kean Adam C
Department of Medical & Molecular Genetics, Indiana University School of Medicine, Riley Hospital for Children & Indiana University Health, 550 N. University Blvd., AOC 5th Floor, Ste. 5051, Indianapolis, IN, 46202, USA.
Department of Pediatrics, Division of Cardiology, Indiana University School of Medicine, Riley Hospital for Children & Indiana University Health, 705 Riley Hospital Dr., Indianapolis, IN, 46202, USA.
J Genet Couns. 2018 Jun;27(3):558-564. doi: 10.1007/s10897-017-0169-5. Epub 2017 Oct 27.
There are minimal data on the impact of genetic counselors in subspecialty clinics, including the pediatric arrhythmia clinic. This study aimed to describe the clinical encounters of a genetic counselor integrated into a pediatric arrhythmia clinic. In the 20 months between July 2015 and February 2017, a total of 1914 scheduled patients were screened for indications relevant for assessment by a genetic counselor. Of these, the genetic counselor completed 276 patient encounters, seeing 14.4% of all patients in clinic. The most expected and common indications for genetic counselor involvement were related to suspicion for primary heritable arrhythmia conditions, though patients seen in this clinic display a wide range of cardiac problems and many additional indications for genetic evaluation were identified. Roughly 75% (211/276) of encounters were for personal history of confirmed/suspected heritable disease, including cardiac channelopathies, cardiomyopathies, ventricular arrhythmias, and congenital heart defects, and 25% (65/276) were for family history of disease, including long QT syndrome and sudden unexplained death. Overall, this study shows that about 1 in 7 patients seen in a pediatric arrhythmia clinic have indications that likely benefit from genetic counselor involvement and care. Similar service delivery models embedding genetic counselors in pediatric arrhythmia clinics should be encouraged, and this model could be emulated to increase patient access to genetic counseling services.
关于遗传咨询师在专科诊所(包括小儿心律失常诊所)所产生影响的数据极少。本研究旨在描述一名融入小儿心律失常诊所的遗传咨询师的临床诊疗情况。在2015年7月至2017年2月的20个月期间,共对1914名预约患者进行了筛查,以确定是否有适合遗传咨询师评估的指征。其中,遗传咨询师完成了276次患者诊疗,占诊所所有患者的14.4%。遗传咨询师参与诊疗最常见且预期的指征与怀疑原发性遗传性心律失常疾病有关,不过在该诊所就诊的患者表现出广泛的心脏问题,并且还发现了许多其他适合进行遗传评估的指征。大约75%(211/276)的诊疗是针对已确诊/疑似遗传性疾病的个人病史,包括心脏离子通道病、心肌病、室性心律失常和先天性心脏缺陷,25%(65/276)是针对疾病家族史,包括长QT综合征和不明原因猝死。总体而言,本研究表明,在小儿心律失常诊所就诊的患者中,约七分之一有指征可能受益于遗传咨询师的参与和照护。应鼓励在小儿心律失常诊所采用类似的将遗传咨询师纳入其中的服务提供模式,并且这种模式可被效仿以增加患者获得遗传咨询服务的机会。