Why Genome Sequencing?
- Genome sequencing (GS) includes a comprehensive analysis across the genome which allows for the detection of diverse variant types within a single test, such as single nucleotide variants, copy number variants, short tandem repeat expansions, deep intronic and noncoding variants, and mitochondrial genome variants.
- Due to this broad coverage, GS has a higher diagnostic yield compared to traditional genetic testing approaches such as chromosomal microarray and targeted gene panels.
- Benefits of establishing genetic diagnoses for individuals with rare disorders include informing treatment and medical management, future health risks and comorbidities, and genetic counseling, which can further impact patient outcomes and reduce long term healthcare costs.
- In the past several years, multiple professional societies have developed genetic testing guidelines which recommend GS as a first-tier test for a variety of clinical indications.
