By Diagnostics World Staff
January 20, 2016 | Ambry Genetics today announced a new suite of genetic tests for neurodevelopmental disorders. The panels are available now and cover intellectual disability, autism, neurodevelopment, Rett and Angelman syndromes.
“Neurodevelopmental disorders (NDD) can be challenging to diagnose because symptoms often overlap and are not specific to any one NDD,” said Amanda Bergner, a certified genetic counselor and senior product manager for Ambry’s neurology efforts in the announcement. “We are proud to offer this new product line to provide clinicians with more tools to arrive at an accurate diagnosis, and look forward to continually expanding our neurology testing menu.”
Last fall, Ambry Genetics launched epilepsy testing, and the new tests follow the same model. The tests are designed in a tiered fashion, which provides more efficient, cost-effective testing Bergner explained to Diagnostics World News. “The tests are designed in a way where a clinician might be able to start with a smaller, more targeted panel that’s directed at the clinical findings for their patient, and really look into the most likely genes that could provide an answer or explanation for the clinical features. Then they have the option to then move on to the larger, more broad testing if an answer isn’t found on the more targeted panel,” she said.
Ambry’s new tests include:
- IDNext: a broad panel of 140 genes known to be associated with both syndromic and non-syndromic ID
- AutismFirst: a targeted panel of 16 genes recognized by the American College of Genetics and Genomics (ACMG) as associated with syndromic ASDs
- AutismNext: a broader panel of 48 genes that can cause both syndromic and non-syndromic ASDs
- Neurodevelopment-Expanded: a broad panel of 196 genes designed for patients who have a combination of ID, ASDs, and epilepsy
- Rett/AngelmanNext: a panel of 22 genes known to cause symptoms of multiple overlapping neurodevelopmental disorders, including Rett syndrome and Angelman syndrome
Ambry tests are ordered by physicians, and samples are sent from the clinician’s office to Ambry labs for testing. Ambry sends a findings report back to the ordering clinician and has genetic counselors available to answer any questions the physician might have.
Ambry is committed to genetic counselors, Bergner said. She is a certified genetic counselor and came to Ambry from a clinical background where she worked individually with patients.
“Genetic counselors are really the heart and soul of this company, and we’ve been integrated into Ambry since the very beginning. There are a large number of us that are working and really are instrumental in developing products and programs,” she said. “Our expertise in both genetics and communication—particularly healthcare communication—really ideally situates us to bring benefit to the company.”
Ambry’s commitment to traditional physician-ordered testing, is a model that some other diagnostics companies are eschewing, but Bergner believes it is the right choice.
“Genetic tests can sometimes be a little bit more complicated to interpret, and at Ambry we think it’s really important that patients and families have access to professionals who are highly trained in that interpretation to be sure that they’re getting it right,” she said. “We know that people are making important healthcare decisions based on these tests results.”
Ambry does offer one-page “Understanding Your Results” handouts that physicians can give their patients as they go through the findings, but it provides background on genetic testing in general, not specific information about the patient’s test.
Ambry tests generally return results in 1-2 weeks, though the very large panels can take longer.