2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Comprehensive genetic testing gives a high diagnostic yield in the Indian sub-continent compared to the western population

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In this study, researchers analyzed next-generation sequencing data from individuals in the Indian population who were referred for genetic testing. The goal was to assess the clinical utility of the assay and achieve a molecular diagnosis for different phenotypic manifestations. The focused exome sequencing performed at PKIG provided coverage of over 99% of the exome, including disease-associated genes and analysis of the mitochondrial genome. <br /><br />The study reported pathogenic or likely pathogenic variants in 35.2% of the cases, indicating a high diagnostic yield. Additionally, carrier testing of asymptomatic individuals with a family history of disease achieved a diagnostic yield of 36.4%. The researchers also identified pathogenic variants in the mitochondrial genome and found that 7.8% of the cases had no relevant findings related to the reported phenotype. <br /><br />Homozygous variants were found in 125 cases, which is likely due to the high consanguinity in the Indian population. Approximately 5.1% of cases had copy number variations (CNV), ranging from single exon deletion to large copy number with or without a single nucleotide variant. <br /><br />The diagnostic yield achieved through focused exome sequencing in Indian patients is higher than that reported in patients from Western countries. The proprietary bioinformatics pipelines used in the study enhanced the detection of sequencing variants, copy number variants, and mitochondrial DNA in a single assay, making it one of the most comprehensive testing options available in the Indian market. The study suggests that focused exome sequencing could be a lower-cost alternative to whole exome and whole genome sequencing as a first-tier approach to genetic testing.<br /><br />Overall, the study emphasizes the high diagnostic yield of comprehensive genetic testing in the Indian population compared to the Western population and highlights the clinical utility of focused exome sequencing in providing molecular diagnoses for various phenotypic manifestations.

Asset Subtitle

Presenting Author - Shruti Sureshkumar, M.SC, GC; Co-Author - Arul Joseph Duraisamy, PhD; Co-Author - Lakshmanan Jagannathan, PhD; Co-Author - Rajiv Rose, PH.D; Co-Author - Christin D. Collins, PhD, FACMG; Co-Author - Madhuri Hegde, PhD, FACMG;

Meta Tag

Exome sequencing

Genetic Testing

NextGen Sequencing

Co-Author Arul Joseph Duraisamy, PhD

Co-Author Lakshmanan Jagannathan, PhD

Co-Author Rajiv Rose, PH.D

Co-Author Christin D. Collins, PhD, FACMG

Co-Author Madhuri Hegde, PhD, FACMG

Presenting Author Shruti Sureshkumar, M.SC, GC

Keywords

next-generation sequencing

genetic testing

clinical utility

molecular diagnosis

exome sequencing

pathogenic variants

diagnostic yield

mitochondrial variants

copy number variations

comprehensive testing