Molecular Genetic Testing in Pediatric and Adult Neurology in Iraq: New Experience and Challenges from a Developing Country

Abstract

Inherited neurological disorders are reasonably common in pediatric and adult neurology practices. Genetic testing for such disorders does carry promise, but is fraught with challenges and difficulties. This study was conducted to assess the utility of genetic testing in a cohort of 200 patients who had neurological disorders, suspected to be of inherited origin, and for whom molecular genetic testing was requested during the period 2014 to 2019. Two hundred and eight tests were ordered. The characteristics of that practice were reviewed. Further, we summarized the challenges and highlighted the concerns that were raised. The medical records of 200 patients were retrieved and reviewed to assess the demographic characteristics of the cohort, their clinical presentation, genetic test requested for each, and the interpretation of the test results.

Keywords

genetic - neurology - Iraq

Publikationsverlauf

Eingereicht: 11. April 2020

Angenommen: 06. Juli 2020

Artikel online veröffentlicht:
21. September 2020

• References

• 1 Huang Y, Yu S, Wu Z, Tang B. Genetics of hereditary neurological disorders in children. Transl Pediatr 2014; 3 (02) 108-119
• 2 Ministry of Health, Iraq. Annual Statistical Report, 2018. Iraq: Directorate of Planning and Resources Development; 2019. , Report No. 2251
• 3 Hamamy H, Antonarakis SE, Cavalli-Sforza LL. et al. Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet Med 2011; 13 (09) 841-847
• 4 Al-Mosawi AJ. Genetic and hereditary disorders in Iraqi children. Ann Med Surg Case 2019;1(02). Available at: https://grfpublishers.com/article/view/Nzk=/Genetic-and-Hereditary-Disorders-in-Iraqi-Children
• 5 Al-Hadithi ATR, Abdulmajeed BA, Shareef HRA. Molecular characterization of dystrophin gene in Iraqi patients with muscular dystrophy. J Fac Med Baghdad 2014; 56 (02) 181-185 . Available at: https://iqjmc.uobaghdad.edu.iq/index.php/19JFacMedBaghdad36/article/view/462
• 6 Al Mosawi A. The Uncommon and Rare Genetic Disorders in Iraq [internet]. Iraq: Iraq Headquarter of Copernicus Scientists International Panel; 2019. . Available at: https://www.researchgate.net/publication331970747_The_uncommon_and_rare_genetic_disorders_in_Iraq
• 7 Karmeet BK, Al-Kazaz AA, Saber M. Molecular genetics study on autistic patients in Iraq. Iraqi J Sci 2015; 56(1A):: 119-124 . Available at: https://www.researchgate.net/publication/311885088_Molecular_Genetics_Study_on_Autistic_Patients_in_Iraq
• 8 Tappuni AR, Tbakhi A, Sharquie KE. et al. A comparative study of the genetics of Behcet's disease in Iraq: international collaboration to transfer clinical and laboratory skills to Baghdad medical school and hospitals. Med Confl Surviv 2013; 29 (01) 57-68
• 9 Alhamamy H. Genetic diseases in Iraq. In: Tebeei AS. ed. Genetic Disorders among Arab Population, 2nd ed. Berlin, Heidelberg: Springer-Verlag; 2010: 303-310
• 10 Thevenon J, Duffourd Y, Masurel-Paulet A. et al. Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test. Clin Genet 2016; 89 (06) 700-707
• 11 Joshi C, Kolbe DL, Mansilla MA, Mason SO, Smith RJH, Campbell CA. Reducing the cost of the diagnostic odyssey in early onset epileptic encephalopathies. BioMed Res Int 2016; 2016: 6421039
• 12 Snoeijen-Schouwenaars FM, van Ool JS, Verhoeven JS. et al. Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability. Epilepsia 2019; 60 (01) 155-164
• 13 Tan TY, Dillon OJ, Stark Z. et al. Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions. JAMA Pediatr 2017; 171 (09) 855-862
• 14 Srivastava S, Love-Nichols JA, Dies KA. et al; NDD Exome Scoping Review Work Group. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med 2019; 21 (11) 2413-2421
• 15 Kaufmann WE. Neurogenetic in child neurology: redefining a discipline in the twenty - first century. Curr Neurol Neurosci Rep 2016; 16 (12) 103
• 16 Di Stefano V, Rispoli MG, Pellegrino N. et al. Diagnostic and therapeutic aspects of hemiplegic migraine. J Neurol Neurosurg Psychiatry 2020; 91 (07) 764-771
• 17 Yang Y, Muzny DM, Xia F. et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 2014; 312 (18) 1870-1879
• 18 Yang Y, Muzny DM, Reid JG. et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 2013; 369 (16) 1502-1511
• 19 Demos M, Guella I, DeGuzman C. et al. Diagnostic yield and treatment impact of targeted exome sequencing in early-onset epilepsy. Front Neurol 2019; 10: 434
• 20 Vissers LELM, van Nimwegen KJM, Schieving JH. et al. A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genet Med 2017; 19 (09) 1055-1063
• 21 Córdoba M, Rodriguez-Quiroga SA, Vega PA. et al. Whole exome sequencing in neurogenetic odysseys: an effective, cost- and time-saving diagnostic approach. PLoS One 2018; 13 (02) e0191228
• 22 Shevchenko Y, Bale S. Clinical versus research sequencing. Cold Spring Harb Perspect Med 2016; 6 (11) a025809
• 23 Thong MK, See-Toh Y, Hassan J, Ali J. Medical genetics in developing countries in the Asia-Pacific region: challenges and opportunities. Genet Med 2018; 20 (10) 1114-1121
• 24 Rispoli MG, Di Stefano V, Mantuano E, De Angelis MV. Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic hemiplegic migraine. BMJ Case Rep 2019; 12 (10) e231129