2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Evaluation of mainstream genetic testing for patients with Autosomal Dominant Polycystic Kidney Disease: early experience from the University of Chicago.

Pdf Summary

The University of Chicago conducted an evaluation of mainstream genetic testing for patients with polycystic kidney disease (PKD). PKD is a group of chronic kidney diseases with different manifestations and inheritance patterns. The study aimed to identify the genetic causes of PKD and evaluate the effectiveness of genetic testing in patient management and treatment.<br /><br />The study included 64 clinical patients with a suspected PKD diagnosis and 74 research participants enrolled in the largest ADPKD registry in Illinois. Genetic testing was performed using next-generation sequencing targeted panels. In the clinical cohort, 47% of patients had a pathogenic or likely pathogenic variant, while 78% of research participants had a diagnostic variant.<br /><br />In the clinical cohort, 50% of patients had variants of unclear significance (VUS), which require further study. The research cohort had a higher detection rate of pathogenic variants, likely due to stricter enrollment criteria. The study found that genetic testing can assist in predicting prognosis and selecting patients for specific therapies.<br /><br />Implementing genetic testing into the nephrology clinic had several benefits, including improved access, decreased time for testing and receiving results, facilitated treatment decisions, and increased diagnostic yield. The collaboration between geneticists, genetic counselors, and nephrologists was crucial for the success of the genetic testing workflow.<br /><br />The study concluded that genetic testing is essential for the management and treatment of PKD patients. It allows for the identification of genetic modifiers, potential genotype-phenotype correlations, and assists in selecting patients for specific therapies. Despite the challenges of expanding phenotypic spectra and constantly growing disease-causing gene lists, genetic testing has a significant impact on patient care.<br /><br />In summary, genetic testing for PKD patients at The University of Chicago has shown promising results in identifying causative variants and improving patient management. Mainstreaming genetic testing into the nephrology clinic has facilitated access and decreased testing time, leading to more effective treatment decisions. Ongoing research is being conducted to further understand the genetics of PKD and its implications for patient care.

Asset Subtitle

Submitter Only - Daniela Del Gaudio, PhD; Co-Author - Lan Ma, MS; Co-Author - Ashley Hayden, MS; Co-Author - Priscilla Kandikatla, MS; Co-Author - Corinne Cochran, MS; Co-Author - Arlene Chapman, MD; Presenting Author - Daniela del Gaudio, PhD, FACMG;

Meta Tag

Exome sequencing

Genetic Testing

NextGen Sequencing

Phenotypic delineation of disorders

Variant Detection

Co-Author Lan Ma, MS

Co-Author Ashley Hayden, MS

Co-Author Priscilla Kandikatla, MS

Co-Author Corinne Cochran, MS

Co-Author Arlene Chapman, MD

Presenting Author Daniela del Gaudio, PhD, FACMG

Submitter Only Daniela Del Gaudio, PhD

Keywords

University of Chicago

genetic testing

polycystic kidney disease

PKD

chronic kidney diseases

inheritance patterns

next-generation sequencing

pathogenic variants

diagnostic variant

genetic modifiers