Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel

Tal-Ben Ishay, Rotem; Shil, Apurba; Solomon, Shirley; Sadigurschi, Noa; Abu-Kaf, Hadeel; Meiri, Gal; Flusser, Hagit; Michaelovski, Analya; Dinstein, Ilan; Golan, Hava; Davidovitch, Nadav; Menashe, Idan

doi:10.3390/genes13010036

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Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel

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Department of Public Health, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 84100, Israel

Azrieli National Centre for Autism and Neurodevelopment Research, Ben-Gurion University of the Negev, Beer-Sheva 84100, Israel

Zlotowski Center for Neuroscience, Ben-Gurion University of the Negev, Beer-Sheva 84100, Israel

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Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 84100, Israel

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Preschool Psychiatric Unit, Soroka University Medical Center, Beer-Sheva 84100, Israel

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Child Development Center, Soroka University Medical Center, Beer-Sheva 84100, Israel

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Psychology Department, Ben-Gurion University of the Negev, Beer-Sheva 84100, Israel

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Department of Health Systems Management, Ben-Gurion University of the Negev, Beer-Sheva 84100, Israel

Author to whom correspondence should be addressed.

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These authors contributed equally to this work.

Academic Editors: Maria Chahrour and Suzanne Lewis

Genes 2022, 13(1), 36; https://doi.org/10.3390/genes13010036

Received: 23 November 2021 / Revised: 15 December 2021 / Accepted: 17 December 2021 / Published: 23 December 2021

(This article belongs to the Special Issue Genetic and Phenotypic Subtypes of Autism Spectrum Disorder)

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Abstract

Whole-exome sequencing (WES) is an effective approach to identify the susceptibility of genetic variants of autism spectrum disorder (ASD). The Israel Ministry of Health supports WES as an adjunct tool for ASD diagnosis, despite its unclear diagnostic yield and cost effectiveness. To address this knowledge gap, we applied WES to a population-based sample of 182 Bedouin and Jewish children with ASD from southern Israel, and assessed its yield in a gene panel of 205 genes robustly associated with ASD. We then compared the incremental cost-effectiveness ratios (ICERs) for an ASD diagnosis by WES, chromosomal microarray analysis (CMA), and CMA + WES. Overall, 32 ASD candidate variants were detected in 28 children, corresponding to an overall WES diagnostic yield of 15.4%. Interestingly, the diagnostic yield was significantly higher for the Bedouin children than for the Jewish children, i.e., 27.6% vs. 11.1% (p = 0.036). The most cost-effective means for genetic testing was the CMA alone, followed closely by the CMA + WES strategy (ICER = USD 117 and USD 124.8 per child). Yet, WES alone could become more cost effective than the other two approaches if there was to be a 25% increase in its yield or a 50% decrease in its cost. These findings suggest that WES should be recommended to facilitate ASD diagnosis in Israel, especially for highly consanguineous populations, such as the Bedouin. View Full-Text

Keywords: autism spectrum disorder; genetics; whole-exome sequencing; diagnostic yield; cost-effectiveness analysis

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Tal-Ben Ishay, R.; Shil, A.; Solomon, S.; Sadigurschi, N.; Abu-Kaf, H.; Meiri, G.; Flusser, H.; Michaelovski, A.; Dinstein, I.; Golan, H.; Davidovitch, N.; Menashe, I. Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel. Genes 2022, 13, 36. https://doi.org/10.3390/genes13010036

AMA Style

Tal-Ben Ishay R, Shil A, Solomon S, Sadigurschi N, Abu-Kaf H, Meiri G, Flusser H, Michaelovski A, Dinstein I, Golan H, Davidovitch N, Menashe I. Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel. Genes. 2022; 13(1):36. https://doi.org/10.3390/genes13010036

Chicago/Turabian Style

Tal-Ben Ishay, Rotem, Apurba Shil, Shirley Solomon, Noa Sadigurschi, Hadeel Abu-Kaf, Gal Meiri, Hagit Flusser, Analya Michaelovski, Ilan Dinstein, Hava Golan, Nadav Davidovitch, and Idan Menashe. 2022. "Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel" Genes 13, no. 1: 36. https://doi.org/10.3390/genes13010036

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Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel

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