AOCCN2017

講演情報

Poster Presentation

[P1-142~216] Poster Presentation 1

2017年5月11日(木) 09:30 〜 16:00 Poster Room B (1F Argos F)

[P1-194] Issues in The Process of Genetic Testing in Children with Neurologic Disorders

Shu CHIEN (Genetic Consultation Center, Taichung Veterans General Hospital, Taichung, Taiwan)

[Introduction]
Genetic and genomic advances prompt the development of various clinical genetic tests for children with unexplained causes of neurologic disorders. However, genetic testing is costly and may not be available and be taken to all families. The performance of the ordered test is not run in the same institution where physicians assessed the children or recommended to family. Patients’ specimen may be sent to other institutions or refers patients to visit the institution where run that genetic tests. Many issues related to conduct testing exist in the clinical setting. The aim of this study was to understand the encountered issues in the process of genetic testing.
[Methodology]
From January 2015 to September 2016, 260 children with neurologic disorders assessed by physicians and received genetic tests after pretest counseling were collected. The test method, the test price, test laboratory’s performance, specimen collected method, test limitation, possible result limitation and/or further test suggestion were discussed with parents or family. The issues in the process were analyzed.
[Results]
Five issues occurred in the testing process were noticed in our study, including 1) laboratory search and choice, 2) test expense weighed with urgent medical intervention, 3) test strategies ; 4) website information influences, and 5) result interpretation and confirmation.
[Conclusions]
Genetic testing in children with neurologic disorders requires a team from physicians, genetic counselors, molecular geneticist and technician, and medical geneticists to work on specific issues and considerations tailed to parents or family among each child requesting genetic testing in clinical practice.