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1. A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies

Author

Ben Pode-Shakked, Ortal Barel, Amihood Singer, Miriam Regev, Hana Poran, Aviva Eliyahu, Yael Finezilber, Meirav Segev, Michal Berkenstadt, Hagith Yonath, Haike Reznik-Wolf, Yael Gazit, Odelia Chorin, Gali Heimer, Lidia V. Gabis, Michal Tzadok, Andreea Nissenkorn, Omer Bar-Yosef, Efrat Zohar-Dayan, Bruria Ben-Zeev, Nofar Mor, Nitzan Kol, Omri Nayshool, Noam Shimshoviz, Ifat Bar-Joseph, Dina Marek-Yagel, Elisheva Javasky, Reviva Einy, Moran Gal, Julia Grinshpun-Cohen, Mordechai Shohat, Dan Dominissini, Annick Raas-Rothschild, Gideon Rechavi, Elon Pras, and Lior Greenbaum

Subjects
Medicine, Science
Abstract

Abstract Exome sequencing (ES) is an important diagnostic tool for individuals with neurodevelopmental disorders (NDD) and/or multiple congenital anomalies (MCA). However, the cost of ES limits the test's accessibility for many patients. We evaluated the yield of publicly funded clinical ES, performed at a tertiary center in Israel, over a 3-year period (2018–2020). Probands presented with (1) moderate-to-profound global developmental delay (GDD)/intellectual disability (ID); or (2) mild GDD/ID with epilepsy or congenital anomaly; and/or (3) MCA. Subjects with normal chromosomal microarray analysis who met inclusion criteria were included, totaling 280 consecutive cases. Trio ES (proband and parents) was the default option. In 252 cases (90.0%), indication of NDD was noted. Most probands were males (62.9%), and their mean age at ES submission was 9.3 years (range 1 month to 51 years). Molecular diagnosis was reached in 109 probands (38.9%), mainly due to de novo variants (91/109, 83.5%). Disease-causing variants were identified in 92 genes, 15 of which were implicated in more than a single case. Male sex, families with multiple-affected members and premature birth were significantly associated with lower ES yield (p

Published
2021
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2. A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies

Author

Odelia Chorin, Amihood Singer, Aviva Eliyahu, Mordechai Shohat, Dan Dominissini, Annick Raas-Rothschild, Moran Gal, Gideon Rechavi, Andreea Nissenkorn, Hana Poran, Julia Grinshpun-Cohen, Michal Berkenstadt, Yael Gazit, Lidia V. Gabis, Yael Finezilber, Bruria Ben-Zeev, Noam Shimshoviz, Hagith Yonath, Omri Nayshool, Elon Pras, Nofar Mor, Reviva Einy, Efrat Zohar-Dayan, Miriam Regev, Michal Tzadok, Haike Reznik-Wolf, Ben Pode-Shakked, Elisheva Javasky, Ortal Barel, Lior Greenbaum, Dina Marek-Yagel, Ifat Bar-Joseph, Meirav Segev, Nitzan Kol, Gali Heimer, and Omer Bar-Yosef

Subjects
Proband, Adult, Male, Pediatrics, medicine.medical_specialty, Microcephaly, Financing, Government, Adolescent, Science, Cost-Benefit Analysis, Genetic Counseling, Article, Paternal Age, Tertiary Care Centers, Epilepsy, Young Adult, Pregnancy, Prenatal Diagnosis, Intellectual disability, Exome Sequencing, medicine, Humans, Abnormalities, Multiple, Global developmental delay, Genetic Testing, Israel, Child, Exome sequencing, Retrospective Studies, Multidisciplinary, Molecular medicine, business.industry, Medical genetics, Neurodevelopmental disorders, Infant, Newborn, Infant, medicine.disease, Autism spectrum disorder, Premature birth, Child, Preschool, Medicine, Feasibility Studies, Female, business, Maternal Age, Program Evaluation
Abstract

Exome sequencing (ES) is an important diagnostic tool for individuals with neurodevelopmental disorders (NDD) and/or multiple congenital anomalies (MCA). However, the cost of ES limits the test's accessibility for many patients. We evaluated the yield of publicly funded clinical ES, performed at a tertiary center in Israel, over a 3-year period (2018–2020). Probands presented with (1) moderate-to-profound global developmental delay (GDD)/intellectual disability (ID); or (2) mild GDD/ID with epilepsy or congenital anomaly; and/or (3) MCA. Subjects with normal chromosomal microarray analysis who met inclusion criteria were included, totaling 280 consecutive cases. Trio ES (proband and parents) was the default option. In 252 cases (90.0%), indication of NDD was noted. Most probands were males (62.9%), and their mean age at ES submission was 9.3 years (range 1 month to 51 years). Molecular diagnosis was reached in 109 probands (38.9%), mainly due to de novo variants (91/109, 83.5%). Disease-causing variants were identified in 92 genes, 15 of which were implicated in more than a single case. Male sex, families with multiple-affected members and premature birth were significantly associated with lower ES yield (p

Published
2021

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