Summary: Ambry Genetics unveiled a new multiomic exome sequencing test that incorporates RNA analysis to enhance the detection of rare diseases beyond conventional DNA-based exome sequencing.
Takeaways:
- Enhanced Diagnostic Yield: ExomeReveal improves the identification of rare diseases by integrating RNA analysis with DNA sequencing, resolving variants of uncertain significance that standard exome tests might miss.
- Patient-Centric Approach: Patients undergoing ExomeReveal are automatically enrolled in the Ambry Patient for Life program, which continuously reanalyzes their exome data as new scientific insights emerge, providing additional answers over time.
- Commitment to Innovation: Building on its legacy of pioneering commercial exome testing, Ambry Genetics continues to lead in clinical genomics by offering comprehensive and advanced testing options at no additional cost to patients.
Ambry Genetics, a leader in clinical genomic testing and a subsidiary of REALM IDx, Inc., announced a new multiomic exome sequencing test designed to improve rare disease detection compared with conventional DNA-based exome sequencing.
The new test, ExomeReveal, brings Ambry Genetics’ extensive experience in RNA analysis, honed through its hereditary cancer testing portfolio, to its ExomeNext exome sequencing test, to improve diagnostic yield for rare diseases.
Rare Disease Testing
The term “rare disease” comprises more than 7,000 diseases affecting fewer than 200,000 Americans each, which are collectively believed to affect a total of 25 million to 30 million Americans.1 Exome sequencing—which interrogates the coding regions of genomic DNA—is typically indicated for evaluation of children with congenital birth defects, intellectual disability, and neurodevelopmental disorders such as autism spectrum disorder and epilepsy.
The ExomeReveal Test
The ExomeReveal test goes beyond DNA sequencing to include RNA analysis of qualified splicing variants that cannot be classified from DNA alone, according to Ambry Genetics. By adding RNA functional studies, the ExomeReveal test can resolve variants of uncertain significance and deliver answers to more patients than standard DNA-based testing.
“Every diagnosis matters to patients and families experiencing the rare disease diagnostic odyssey,” says Elizabeth Chao, MD, chief medical officer at Ambry Genetics. “By adding RNA analysis capabilities to our exome sequencing test, we will be able to identify the cause of rare disease in more patients, enabling better medical care and the potential for new treatment options.”
Developing the ExomeReveal Exome Sequencing test
The team at Ambry Genetics has extensively validated the ExomeReveal test protocol through an early access program. Through this testing, about 5% of exome sequencing cases were referred for RNA analysis based on initial DNA results, and clinically meaningful results were reported for about 1 in 50 patients. Further, patients receiving the ExomeReveal test are automatically enrolled in the Ambry Patient for Life program, which provides another 5% of patients with answers over time based on emerging science through continuous, laboratory-driven exome reanalysis.
“As the first company to pioneer commercial exome testing in 2011 to today, Ambry Genetics has always been on the forefront of applying the latest scientific evidence to the identification of genetic causes of rare diseases,” says Tom Schoenherr, chief executive officer at Ambry Genetics. “The ExomeReveal test is the most recent example of our company’s commitment to innovation, and our investment in providing patients with the most comprehensive clinical genomics tests available.”
The ExomeReveal test is performed in Ambry Genetics CAP-accredited, CLIA-certified and New York State-approved laboratory. The test is available for order and is offered at no additional cost to the patient.
References:
- “Rare Disease Facts & Statistics,” National Organization for Rare Disorders. Available: https://rarediseases.org/understanding-rare-disease/rare-disease-facts-and-statistics/.
