Pre-Implantation Genetic Diagnostics

Roberta Speyer: This is Roberta Speyer reporting from ASRM in Montreal, talking to Dr. Mark Surrey who has a new company that he is going to tell us about, PGD by ART. Dr. Surrey is very well known in the field of infertility, and on our Editorial Advisory Board. He has done many presentations on OBGYN.net, so I am very interested in having him share with us. What is this all about Mark? What is new?

Dr. Mark Surrey: Roberta, it is not really new but it is something called pre-implantation genetic diagnostics. It was initially utilized clinically in England by my mentor, Robert Winston and Alan Handyside, perhaps 20 years ago or so, for single gene disorders. The technology involved has become, like many things, a little easier to perform and a little less onerous economically, so that it is available now clinically to utilize for reproductive care. The process itself involves either FISH, or fluorescent in situ hybridization, or PCR, called Polymerase Chain Reaction, which is the way to screen for single gene disorders. The FISH process we use to screen for aneuploidy, or chromosomal abnormalities.

The process is performed by single blastomere biopsy on day three embryos. We formed a company called Chromogenetics, or an acronym is PGD by ART, or Assisted Reproduction Technologies. What our purpose is, is to enable clinics all over the area, and we serve mostly clinics in the western United States, but we do work with other groups similar to ours on the east coast as well, to train their embryologists to do onsite the actual biopsies. Then labs, like ourselves, can then interpret the slides, which we do in a few hours by the either FISH, or PCR technology. Therefore the clinic can know a lot more information about the embryo to make an intelligent decision about which embryos are best to transfer.

This technology has some pretty interesting clinical applications that have been shown to be valid. One of them has to do with aneuploidy screening and women of advanced maternal age. We see that it is physiologic for a significant percentage of these women to have a large number of aneuploid embryos, which probably explains failure to implant, as well as an increased incidence of first trimester pregnancy losses. By screening the embryos for aneuploidy, in theory we should be able to increase implantation rates and decrease miscarriage rates, which has been noted to be the case.

The other thing of interest I think socially in this group of patients of advanced maternal age is that there are a large percentage of these patients who make all embryos aneuploid, and therefore really shouldn’t be continuing to try to conceive. It enables them to put a closure to this area and perhaps to seek alternatives that might work better for them, such as ovum donation. In that way I think it contributes a great deal to the socio-economic wellbeing of lets say a 44-year-old who is doing repeated cycles of ovulation induction or IVF without an outcome.

Roberta Speyer: The cost there is emotional but there’s also a true financial cost involved. Is there something you want to tell us about for people that are seeking this? Is the cost prohibitive, or is it something that can be done, you would recommend to be done, if you were in that age group?

Dr. Mark Surrey: Well, I think it is a relative kind of a value in so much as that we have seen, in addition to those patients, a significant indication of women with recurrent pregnancy loss, whereby the clinical results, both in our studies as well as the studies of some of our colleagues, Santiago Munn, Jacques Cohen, show clearly that younger patients with recurrent pregnancy loss are benefited significantly by utilizing this technology. The costs of it will vary depending upon which tests are done, but the average cost of this process by lets say fluorescent in situ hybridization is around $3000 - $3500. That is regardless of the number of embryos that are tested, meaning that if you have two embryos the cost is the same as if you had 20 embryos because the actual limiting factors are the cost of the probes, which are very expensive. It is fairly labour intensive as well as you might imagine and so our focus has been on training embryologists that we then work with that can do this.

Roberta Speyer: So Dr. Surrey, physicians can go to PGDART.com, and they can find out more about the work you are doing. When you say a cost of about $3500, if someone is having recurrent problems, that is less than the cost of one more cycle that does not go well, really, isn’t it? I mean when you look at it economically, if a person is having recurrent pregnancy losses or having problems, to step in sooner with something of this nature is a very economically feasible option, but emotionally it certainly must help people move on to find out what they can really expect.

Dr. Mark Surrey: That is absolutely true. It should be very cost effective that you look at the results. Frankly we have had the good fortune because we are a research center to be able to offer through some of the pharmaceutical companies, a number of studies that enable patients to undergo this treatment without any cost. We usually have anywhere from 100 to 150 cycles a year that we can donate for patients who are needy.

Roberta Speyer: That is a wonderful thing. It was great talking to you Dr. Surrey, we always appreciate it and you always have some good news for us. Thank you very much.

Dr. Mark Surrey: Okay, thank you.