Empire Genomics, a Buffalo, NY-based firm that offers products and services for array comparative genomic hybridization, said this week that it is working with genetics lab Reprogenetics to move its chips into the emerging market for pre-implantation genetic diagnosis.
Reprogenetics, which offers PGD services through its headquarters in Livingston, NJ, as well as offices in California, Peru, Spain, and Japan, said it has decided to use Empire’s chips to complement its existing screening methods of fluorescence in situ hybridization and molecular karyotyping.
The firms will present data this week at the American Society of Reproductive Medicine’s annual meeting in Washington showing the feasibility of Empire’s bacterial artificial chromosome-based chips for screening cells for defects prior to implantation.
Reprogenetics’ Research Director Santiago Munné told BioArray News that the company plans to widely adopt Empire-manufactured arrays in its laboratories in Livingston, South San Francisco, Lima, Barcelona, and Tokyo.
PGD is “a single-cell biopsy of an embryo that is screened for chromosomal abnormalities,” Munné explained via e-mail. He said that the company has so far relied on FISH and non-array CGH methods for its service, but these methods are only capable of screening half the chromosomes in a cell in the one-day turnaround time required for PGD testing. With array CGH, he said, the firm can screen all the chromosomes for abnormalities in one day.
Typically, Reprogenetics’ patients are women who have experienced repeated pregnancy loss and are looking to increase their chances of a successful pregnancy, Munné wrote. The company also targets women over the age of 35 because of the greater chance of chromosomal abnormalities associated with advanced maternal age. In addition, Reprogenetics works with couples undergoing IVF who wish to have their embryos screened for defects prior to implantation.
Munné estimated that between 5 percent and 10 percent of all embryos derived from IVF currently undergo PGD. He predicted that the high-throughput, high-coverage nature of CGH arrays could allow Reprogenetics to screen more patients per day, increasing the firm’s ability to grow the market.
“With better technology using the microarray, we will provide better results and will be able to [apply it] to even more cases,” Munné wrote. He added that PGD currently costs $3,000-$5,000. He did not say whether the price is expected to decrease once Reprogenetics begins using Empire’s arrays.
Partnering for PGD
The companies said that they will present data this week at ASRM demonstrating that Empire’s chips are capable of reproducible genomic profiling of single cells. In the study, the arrays successfully identified trisomies in chromosomes 13, 15, 16, 18, and 21, which are associated with Down’s syndrome, poor fetal development, and several rare conditions. The arrays also successfully identified sex-mismatched DNA, the companies said.
The move to screening embryonic cells could be less controversial than it was for pre-natal screening, a market that several array-CGH players have entered recently. The risk that patients might decide to terminate their pregnancies based on a faulty finding by array CGH kept firms like CombiMatrix Molecular Diagnostics and Signature Genomic Labs from introducing pre-natal testing services before each decided to follow the example set by Baylor College of Medicine and offer pre-natal testing (see BAN 4/3/2007).
“With better technology using the microarray, we will provide better results and will be able to [apply it] to even more cases.”
According to Empire CEO Anthony Johnson, the firm has developed a special technique to work with the DNA from embryonic stem cells for pre-implantation genetic diagnosis. “We have optimized a process that builds on the expertise of Reprogenetics working with and excising single cells from embryos and then manipulating these in a manner that provides sufficient sample for aCGH to karyotype these cells,” he wrote in an e-mail to BioArray News this week.
Johnson said that Empire will use its CGH arrays in Reprogenetics’ PGD services, but stressed that the firms are still “formalizing their relationship” and plan to announce further details of the collaboration shortly.
The partnership would most likely call for Empire to provide its BAC arrays to Reprogenetics, which will screen the samples it obtains through its service. Reprogenetics will then report data back to the referring clinic describing any observed chromosomal aberrations.
“In particular they are screening for [chromosomal disorders], but later they will look at microdeletion syndromes and others as our relationship develops,” Johnson wrote. He added that the firm decided to partner with Reprogenetics because “they are the leaders in this space and the inventors of PGD.” He noted that the firm currently provides PGD services to more than 150 IVF centers in the US alone.
It is unclear if other array CGH firms will follow suit and try to court labs offering PGD. An e-mail to CMDX seeking comment was unreturned, and Lisa Shaffer, the CEO of Signature Genomic Labs, declined to comment on the possibility of using the company’s chips for PGD.