The Latest Technologies for PGD Testing: The Experience of a Non-Profit Laboratory

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Kaitlin Searfoss:
Hi everyone. Welcome to this podcast from Cambridge Healthtech Institute for Reproductive Genetic Diagnostics, which runs November 18th through 19th 2015 in Boston, Massachusetts. I'm Kaitlin Searfoss, Associate Conference Producer. We have with us today one of our speakers, Dr. Rebekah Zimmerman, the Director of Clinical Genetics at The Foundation for Embryonic Competence. Thank you for joining us, Dr. Zimmerman.

Rebekah Zimmerman:
Thank you for having me.

Kaitlin Searfoss:
What types of diagnostic technologies are you and The Foundation for Embryonic Competence exploring and why?

Tanmoy Mukherjee:
We currently offer through our diagnostic laboratories three tests for embryo biopsies. We have our Select CCS, which is our Comprehensive Chromosome Screening for aneuploidies. We have Identify SGD, which is our Single Gene Disorder testing which involves a custom disease testing panel for families with a known inherited disorder. Then the last thing we offer is our Translocation Testing, also known as Rearrangement Testing, so we can test for possible unbalanced products of a rearrangement, whether it's a balanced translocation or an inversion.

Kaitlin Searfoss:
How does the FEC set itself apart from other PGD labs?

Tanmoy Mukherjee:
The foundation is a non-profit organization. We’re dedicated to advancing the knowledge and enhancing the outcomes of embryonic research, the diagnosis, and also building our education. What makes us the most unique to other PGD labs is that all of the proceeds generated from our unique and proprietary tests are 100% allocated into clinical research and education in the field of embryonic competence. Since 2014, we’ve donated over 2 million dollars to support the research and education in our field. And we also, very importantly, invest a lot of time and money into properly validating our tests through randomized clinical trials before we will even offer the test clinically. And we find that very valuable.

Kaitlin Searfoss:
What is the most exciting thing you're working on right now at the FEC?

Tanmoy Mukherjee:
I would say the most exciting thing we have right now is a paper that we are about to have published on our single gene disorder testing and how it sets us apart from any other labs doing single gene disorder testing, and a little bit about that paper, and there will be the platform that I'm presenting at this conference, is that we use a qPCR method that in most scenarios we can do direct mutation testing as well as linkage for nearly all inherited genetic disorders if a family comes to us. We do not need to do this on multiple biopsies, we only use a single biopsy. We don't require whole [genome amplification, which also sets us apart, and we found through our studies that using our CPCR method we have really significantly reduced the risk of allele dropout in the embryos, which if allele dropout were to occur would lead to potential misdiagnosis in the embryo. It's very important for this field, it's very important for the patients that we have discovered this method and applied it to the embryo testing.

Kaitlin Searfoss:
Who are you most looking forward to hearing from at the Reproductive Genetic Diagnostics Conference?

Tanmoy Mukherjee:
I have to say that you have brought together quite a good panel of experts in the field, so it's really exciting to have us all in one room talking about these topics. The most exciting I think, that I'm partaking in on the second day, is the ethics panel. I'm really looking forward to having those discussions about where we are going with the future of embryo testing, what may be down the pipes, and what kind of exciting things we can look forward to.

Kaitlin Searfoss
Thank you for your time today, Dr. Zimmerman. That was Dr. Rebekah Zimmerman, the Director of Clinical Genetics at The Foundation for Embryonic Competence. She'll be speaking at the Reproductive Genetic Diagnostics Conference, which runs November 18th through 19th 2015 in Boston, Massachusetts. If you'd like to hear her in person, go to www.healthtech.com/reproductive-genetic-diagnostics for registration information and enter key code 'podcast'. I'm Kaitlin Searfoss, thank you for listening.