Advances and Challenges in Genetic Diagnostics for Recurrent Pregnancy Loss

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Kaitlin Searfoss:
Hi, everyone. Welcome to this podcast from Cambridge Healthtech Institute for the Reproductive Genetic Diagnostics conference, which runs November 18th through 19th, 2015 in Boston, Massachusetts. I am Kaitlin Searfoss, Associate Conference Producer.

We have with us today one of our speakers, Dr. Tanmoy Mukherjee, assistant clinical professor of obstetrics, gynecology, and reproductive science at Mount Sinai Hospital, and co-director of Reproductive Medicine Associates of New York.

Dr. Mukherjee, thank you for joining us.

Tanmoy Mukherjee:
Oh, thank you very much for having me, Kaitlin.

Kaitlin Searfoss:
How are reproductive genetic diagnostic technologies changing the way reproductive specialists determine the cause of failed implantation or recurrent miscarriage?

Tanmoy Mukherjee:
There's two different approaches that are now possible using these technologies. The first, of course, is better diagnostics. Now using micro-array, we are finding various causes of miscarriage that eluded us when we were using conventional cell culture techniques. Cell culture techniques are unyielding, they are difficult, they require that period of cell growth over 48-72 hours and that amplification set often failed. Now that we can analyze the tissue directly and get micro-array precision, we are able to identify a greater percentage of patients who are unfortunately having recurrent pregnancy loss, now we can identify a cause for those groups of patients more sensitively with this technique.

The other approach is now that we can screen embryos looking for chromosomal abnormalities and if we have specific deletion, also screen for those specific deletions and enhance treatments, not only the diagnostics for these patients who experiencing recurrent pregnancy loss, but we can better identify embryos that should allow them to have a reduced miscarriage rate and a better live birth rate.

Kaitlin Searfoss:
What are the biggest diagnostic challenges reproductive specialists are facing in terms of product of conception testing?

Tanmoy Mukherjee:
I think the biggest challenge is a really practical one. The first, of course is avoiding maternal contamination and with the newer technologies that are available, and of course the better laboratory processes that are involved in sorting fetal and maternal tissue, we are less likely to get an erroneous result from analyzing maternal tissue instead of fetal tissue, and I think that's the most important thing.

Practitioner who is in a large practice and deals with a lot of miscarriages, we always should be taking a look at our products of conception testing and ensuring that we are getting a 50/50 male to female ratio of our results. In other words, if we are getting 70 to 80 percent of our tissue coming back as maternal or XX, then we may want to call the laboratory and make sure that they are accurately teasing apart the fetal and maternal tissue. That kind of contamination can increase the rate of giving falsely reassuring information to the patient, so we just want to make sure of that.

Two, is a practical matter of getting insurance companies to pay for some of the better tests that are available to them. In other words, looking at insurance payers to see if they can allow us to use testing that looks at tissue directly instead of relying solely on karyotypic or cell culture driven analysis of products of conception, so that is an ongoing struggle, thankfully we have a lot of experts in the field of medical billing that harass our pairs in turn, but getting this coverage for our patients is one of the bigger obstacles that my practice is facing.

Kaitlin Searfoss:
Could you tell me how NGS is affecting this type of testing?

Tanmoy Mukherjee:
You know, next generation sequencing is on the horizon, so we are going to get so much more information right now with the techniques that are available to us. We are looking at 4 points on each chromosome and using PCR analysis to identify the chromosome count, we're not looking for specific diseases, or disorders or even single gene mutations that may contribute to reproductive wastage.

With next generation sequencing, it will be a game changer. The problem is, of course, analyzing the vast amount of data that NGS will provide for us and of course, how are we going to use that to benefit our patients? We are learning a lot about the genome. We are learning a lot about the proteome, the metabolome and so forth. Next gen sequencing is going to give us the clearest road map of what's going on at the genome, but it comes to practical applications of that new data to patient care, again, it's going to take some time for us to analyze NGS data and provide meaningful clinical recommendations to our patients. It's a very exciting technology that hopefully we can integrate once it's in clinical practice in a short period of time.

Kaitlin Searfoss:
What are you most looking forward to at the Reproductive Genetic Diagnostic conference?

Tanmoy Mukherjee:
I am looking forward to all of it. It's a terrific venue with outstanding speakers in the field. Joe Leigh Simpson, Brynn Levy, Nathan Treff to name a few. I think anybody who is a practitioner in OB/GYN, reproductive medicine, should be attending this conference because the topics are diverse and very exciting as far as the future of our industry goes. We get more and more integrated with the genetic side of reproductive medicine and obstetrics and gynecology, I think we are moving towards becoming applied clinical geneticists so this area of knowledge and expertise should be incorporated as rapidly as possible into traditional OB/GYN education and certainly reproductive endocrine education. I'm excited to attend. I think it's going to be a wonderful conference.

Kaitlin Searfoss:
Excellent. Thank you so much for your time today, Dr. Mukherjee.

That was Dr. Tanmoy Mukherjee, assistant clinical professor of obstetrics, gynecology, and reproductive science at Mount Sinai Hospital, and co-director of Reproductive Medicine Associates of New York. He'll be speaking at the Reproductive Genetic Diagnostics Conference, which runs November 18th through 19th, 2015 in Boston, Massachusetts. If you would like to hear him in person, go to www.healthtech.com/reproductive-genetic-diagnostics for registration information and enter the key code PODCAST. I am Kaitlin Searfoss. Thank you for listening.