Clinical Genomics in 2022- From Testing to Treatment

Explore the latest advancements in clinical genomics through this comprehensive physician grand rounds presentation. Gain insights into common indications for genetic testing in both pediatric and adult patients, and understand its role during the pandemic. Delve into mitochondrial genome sequencing, pretest counseling, and the limitations of genetic testing. Examine the effectiveness of whole exome sequencing through real patient cases. Discover cutting-edge treatments for genetic diseases, including exon skipping for Duchenne Muscular Dystrophy, ocular gene therapy, and groundbreaking gene therapies for Spinal Muscular Atrophy. Learn about single patient trials and ongoing gene therapy clinical trials to stay at the forefront of genomic medicine in 2022.

Intro
Objectives • Understand common indications for genetic testing
Why genetic testing?
Most common pediatric indications
Most common adult indications
Genetics in a pandemic
MITOCHONDRIAL GENOME SEQUENCING
Pretest counseling
ACMG 73
Limitations of genetic testing
Whole exome sequencing Overall yield: - 1/3 of cases solved
2 year old patient
Patient outcome
Treating genetic diseases
Duchenne Muscular Dystrophy
DMD - genetics
Exon skipping . Common type of pathogenic variant
Eteplirsen efficacy
Single patient trials
Ocular Gene Therapy
First Gene Therapy Approved
Spinal Muscular Atrophy Gene Therapy
Gene Therapy Clinical Trials
Summary