2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Efficiency of Genome Sequencing in Establishing Molecular Diagnosis in Undiagnosed Patients

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This document is a summary of a study that explores the efficiency of genome sequencing (GS) in establishing molecular diagnoses in undiagnosed patients with inherited genetic diseases. The study highlights the importance of detailed clinical information in analyzing genomic data.<br /><br />The study presents several case presentations of patients with various phenotypes, including developmental delays, motor and language delays, intellectual disabilities, and neurological and physical abnormalities. In one case, a pathogenic single exon copy number loss in the MECP2 gene was identified using GS, which provided uniform coverage helpful in detection. In another case, trinucleotide repeat expansions in the ZIC2 and ATXN7 genes were found in the pathogenic range.<br /><br />The study also discusses the limitations of other genetic testing methods such as exome sequencing (ES) and the advantages of GS, which provides coverage of both coding and non-coding regions. In some cases, patients with inconclusive ES results were able to receive clinically relevant diagnoses through GS.<br /><br />Overall, the study emphasizes the clinical utility of GS in identifying variants that may have been missed by other testing methods. The researchers recommend GS as a comprehensive test for identifying single nucleotide variants (SNVs) and copy number variants (CNVs) and stress the importance of detailed clinical information in the analysis of genomic data.

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

Meta Tag

Variant Detection

Phenotype

NextGen Sequencing

Genome sequencing

Genetic Testing

Exome sequencing

Co-Author Madhuri Hegde, PhD, FACMG

Co-Author Christin D. Collins, PhD, FACMG

Co-Author Rajiv Rose, PH.D

Co-Author Shruti Sureshkumar, M.SC, GC

Co-Author Lakshmanan Jagannathan, PhD

Presenting Author Arul Duraisamy, PhD

Keywords

genome sequencing

molecular diagnoses

undiagnosed patients

inherited genetic diseases

clinical information

genomic data

phenotypes

pathogenic single exon copy number loss

trinucleotide repeat expansions

genetic testing methods