Families on Medi-Cal can now receive free genomic testing to diagnose rare genetic disorders at UC Davis Medical Center, according to an announcement Thursday.
“Children with rare genetic disorders that come to our clinic and many times they don’t have an answer,” said Dr. Suma Shankar, associate professor of pediatrics and director of the Precision Genomics Clinic at UC Davis. (The genomic testing) helps us come to a definite diagnosis.”
The genomic tests take DNA from a cheek swab or saliva sample and checks for a few genes or as many as 19,000, Shankar said.
“So if we know a child has seizures, we can look at the genes we think might be causing this,” she said. “But if we don’t know which genes that might be, we’ll look at all the genes.”
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From the results, doctors can clinch a diagnosis and determine if there are better treatments available.
“When we have a diagnosis for a child, it’s not just a child we can help,” Shankar said. “Sometimes these conditions run in the family. We can test the parents, siblings and families can decide what to do with that information.”
Patients need a referral from their primary care provider before they can see a clinic doctor about genomic testing.
If a committee decides the test would help narrow down the diagnosis for the patient, then it is free for children and parents. A two-year, $50,000 grant covers the cost of the test for children.
Medi-Cal provides limited access to genetic testing, often leaving families to pay out-of-pocket for it.
“Medi-Cal and other forms of state aid really view genomic sequencing as experimental so it’s not being covered,” said Katherine Rauen in a statement, chief of genomic medicine at UC Davis. “However, there is a lot of information in the literature that sequencing is not experimental anymore. We’re going to identify underserved patients who would benefit from next-generation sequencing but, because they’re on state aid, have no access.”