A new multiomic exome sequencing test for rare disease detection should expand the number of diagnoses achieved. Ambry Genetics, a subsidiary of REALM IDx, today announced the launch of their ExomeReveal test. In testing through an early access program, Ambry found about 5% of exome sequencing cases were referred for RNA analysis and clinically meaningful results were reported for about 1 in 50 patients.
Whole Exome Sequencing and targeted gene panel sequencing helps were initially popular to detect small germline variants, such as Single Nucleotide Variants and insertions/deletions. More recently, Whole Genome Sequencing (WGS) has been increasingly used in the diagnosis of rare diseases. WGS allows the simultaneous detection of SNVs, Structural Variants, and other types of variants such as repeat expansions.
But there is growing evidence that RNA-sequencing can be a complementary tool to DNA sequencing in diagnostics where DNA analysis doesn’t deliver a diagnosis. Adding RNA allows identification of, for example, alternative splicing and aberrant gene expression.
There are more than 7,000 “rare” diseases. They affect fewer than 200,000 Americans each, but are collectively believed to affect a total of 25 million to 30 million Americans. The cost of their medical care is estimated to be approximately $1 Trillion per year.
Exome sequencing has become more widespread. It interrogates the coding regions of one 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. But some of these children still do not receive a diagnosis.
“Every diagnosis matters to patients and families experiencing the rare disease diagnostic odyssey,” said Elizabeth Chao, MD, CMO 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.”
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.
The ExomeReveal test is performed in Ambry Genetics CAP-accredited, CLIA-certified New York State approved laboratory. The test is available for order and is offered at no additional cost to the patient.
“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,” said Tom Schoenherr, CEO at Ambry Genetics.
He added that, “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.”
