If you’ve been in the field of genetic testing then you know about the Greenwood Genetic Center. With an address on Mendel Circle in Greenwood, South Carolina, this non profit diagnostic testing laboratory has basically written the book on diagnosing and understanding genetic disorders. Chances are, too, that you know the director of their cytogenetics lab and our guest today, Alka Chaubey. Her hunger for meeting new people and learning new science is matched only by her desire to share the Greenwood legacy.
The last time Alka joined us we talked about success stories in diagnostics. Today we’re talking about the limitations that our field is facing.
“If you look cumulatively at scientific discovery, definitely that is moving. But if you look sequentially at patient samples coming into our diagnostic lab, has our diagnostic yield increased? That number has not really made significant progress,” she says.
Now for the $64 million question, right? What can be done improve that number?
The Greenwood Genetic Center has a new program, TGEM (Technology and Genomics Enhancing Medicine) to spur innovation and partnership with technology companies. Alka talks specifically today about one of the six current initiatives in the program to bring BioNano Genomics' mapping technology into the lab’s clinical workflow.
We’ve talked with many scientists on the program lately about the new discoveries in structural variation. Alka's a clinical lab director who is not waiting for any dust to settle on those discoveries before making use of them in her lab. She’s already working on de novo mapping at the clinical level.
“This gives us way higher resolution than karyotyping. So we think that in combination with whole genome sequencing—because whole genome mapping is not a sequencing assay—this will give us more structural variation answers which we think play a significant role in that bucket of undiagnosed cases.”
We land the aircraft today at 23 minutes.
Editor's Note: Since this podcast was recorded, Alka took a new position at Perkin Elmer.