Next Generation Sequencing: A look into whole exome and whole genome sequencing

Whole Genome and Whole Exome Sequencing are highly important in diagnosing rare diseases. They are considerably complex, and major health plans are considering covering these tests for certain patient groups. Download this white paper to learn more about the history, evolution, and current state of WGS and WES.

Unlocking Answers: Advanced Genetic Testing

Transforming Patient Care with Advanced Testing: Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), and Streamlined Access

Lab test results significantly impact patient care, and molecular genetic testing has grown with technological advances. Initially slow and costly, gene sequencing became faster and more affordable with Next Generation Sequencing (NGS) in the early 2000s.

Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) are advanced tests. WES focuses on protein-coding parts, examining only 1% of the genome, while WGS covers the entire genome. These tests often challenge clinical diagnoses based solely on symptoms.

WES and WGS can change treatment plans by providing accurate genetic diagnoses. For example, a patient initially diagnosed with one condition can be correctly diagnosed with a different or additional condition through WES, leading to more effective treatments.

Families with undiagnosed cases face a “diagnostic odyssey,” which can be emotionally and financially draining. WES and WGS offer hope for answers.

These tests are crucial for diagnosing the over 6,000 genetic conditions, especially when symptoms don’t align with known diagnoses. While success rates vary, studies report diagnostic result yields ranging from 23.7% to 50%. Professional societies like the American College of Medical Genetics and Genomics (ACMG) offer guidance.

Insurance coverage standards for WES and WGS differ among payors. Criteria may include evidence of a genetic cause, impact on multiple organ systems, and specific symptoms. Some payors also require genetic counseling. Due to the variations in coverage, patients may avoid receiving genetic testing due to the fear of cost.

For simplified patient access careviso offers financial transparency and prior authorization services through their platform, seeQer. The platform automates the process, lessening the administrative burden on medical staff and improving access to these tests resulting in timely and cost-effective diagnoses.