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Good Start Enters PGS Field with EmbryVu Test

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NEW YORK (GenomeWeb) – Molecular diagnostics company Good Start Genetics has entered the preimplantation genetic screening market with the launch of its first test, EmbryVu.

The Cambridge, Massachusetts-based firm has been offering a next-generation sequencing-based carrier screen since 2012 and has previously said it planned to expand into PGS and noninvasive prenatal testing.

The firm's EmbryVu test is based on a next-generation sequencing method the firm licensed from Johns Hopkins University last year, called FAST-SeqS for Fast Aneuploidy Screening Test-Sequencing System.

Johns Hopkins researchers Bert Vogelstein, Ken Kinzler, Isaac Kinde, and Nickolas Papadopoulos originally developed the test in 2012 for non-invasive prenatal testing and published their method in PLOS One.

Don Hardison, CEO of Good Start Genetics, told GenomeWeb that the firm decided to license the Johns Hopkins method because the workflow was simple and it could be done more cost effectively than other NGS-based PGS testing methods.

The company is also developing a noninvasive prenatal test based on the FAST-SeqS technology, but Hardison declined to disclose a time frame for that launch.

The test will be run in the firm's CLIA-certified and CAP-accredited laboratory on the Illumina HiSeq 2500 with a turnaround time of seven to 10 days. Hardison declined to disclose the price of the test.

Currently, in vitro fertilization has a relatively low success rate with the most common reason for failure being chromosomal aneuploidy. Genetic screening tests are available, but most cost several thousand dollars and insurance rarely pays for them.

Until recently, such tests have been developed on microarrays, but as sequencing costs come down, some companies are shifting to NGS methods. A number of companies and clinics are developing NGS-based tests in China, and in the US Illumina markets a kit, VeriSeq, that New Jersey-based Reprogenetics uses. In addition, Reproductive Medicine Associates of New Jersey launched a clinical trial of an NGS-based PGS test it developed on Thermo Fisher's Ion Torrent technology.

Most NGS-based PGS rely on low-coverage whole-genome sequencing of one or a few cells to identify chromosomal aneuploidies, but Good Start's EmbryVu will use a more targeted strategy, developed by the Johns Hopkins team.

In their PLOS One publication, the Johns Hopkins researchers described a method that uses a single PCR primer pair to amplify repetitive regions that occur on every chromosome. The repetitive regions are similar enough that the one PCR primer will hybridize to all of them, but different enough such that by sequencing them they can be aligned back to the correct chromosome. The proportion of repeats that align back to the chromosomes can then be used to call aneuploidy, in a similar method as current shotgun sequencing-based techniques. In theory, the method could be simpler and less expensive, since it does not involve whole-genome amplification, which can also introduce bias, or whole-genome sequencing, which adds cost.

Greg Porreca, VP of research and technology at Good Start, said it was this simplicity and potential for cost reduction that drew the firm to the method. "We liked the workflow," he said, and "thought it was very amenable to be automated and [we] end up with a test that is extremely accurate and also affordable."

He said that the method ultimately commercialized in the EmbryVu test is essentially the same as the technology described by the Johns Hopkins team except that it has been "streamlined and automated."

The success rate of IVF is low. In 2012, of 176,247 IVF cycles performed in the US, only 16.7 percent resulted in live births, according to the US Centers for Disease Control and Prevention. The IVF success rate is highest among women under 35; 40.5 percent of IVF cycles resulted in live births in that cohort.

One of the most common reasons for failure is a chromosomal abnormality in the embryo that is implanted, which cannot be determined from the standard method for choosing which embryo to implant, which involves looking at the cell's morphology under a microscope.

Genetic screening of embryos before implantation has been shown to improve the success rate. For instance, Natera reports on its website that in a study of 28 women age 41 or older, 16, or 57 percent, became pregnant after using its test.  In addition, a study published this June in BMC Medical Genomics found that PGS via NGS or array CGH resulted in pregnancy rates of 75 percent and 69 percent, respectively.

Despite the increased success with genetic screening, "people have been reluctant to pay the high costs of PGS along with everything else they pay for with IVF," Hardison said.

Illumina previously estimated that globally, PGS is performed in only about 3 percent of IVF cycles.

Michael Alper, a co-founder, as well as medical director and reproductive endocrinologist at Boston IVF, told GenomeWeb that he anticipated that Good Start's test could reduce PGS costs by about half from around $5,000 down to between $2,000 and $3,000. Aside from the sequencing test itself, a large portion of the cost is due to having to biopsy the embryo. Alper said his clinic plans to begin offering Good Start's PGS test in October.

Previously, Boston IVF was offering an array-based genetic screening test for women undergoing IVF, and about 15 percent to 20 percent of patients opted for the genetic screening, Alper said.

"Results clearly showed you could improve implantation and reduce the chance of miscarriage by choosing the right embryo," he said. But, "price was the biggest barrier," he said.

He said in discussions with his patients, most are interested in the lower-cost option, and he expects that the number of patients who choose to have PGS will double. For the most part, states do not mandate that insurance cover fertility treatment, Hardison said, so most do not.

He said that reducing the price of PGS could help open up the market. Currently, he said, while "there are theoretically a lot of players in the market," in discussions with reproductive endocrinologists, Good Start realized that there was a significant demand for a lower-cost option. "There are a lot of really good competitors, but also the opportunity to expand to the market."

The main competitor will likely be Illumina's VeriSeq test, which it sells as a kit. Good Start will run its test as a service out of its own laboratory.

Good Start plans to focus its PGS test on reproductive endocrinologists. It already has a network of such customers that use its carrier screening test, and it has identified a number of initial customers already, including Boston IVF, and will expand from there, Hardison said. In addition, he said the firm has been in discussions with physicians and reproductive endocrinologists about what other tests would make sense for patients, so that Good Start could serve many needs within the reproductive health field, enabling physicians to "not have to use so many different testing service providers," he said.

One area it will definitely pursue is NIPT. Good Start is looking to launch a NIPT also based on the FAST-SeqS technology. Hardison said that the firm is currently doing "feasibility studies" on the NIPT, but would not disclose a potential time line for its launch. "That's a large market and an important one for us to play in as we expand our market," he said. 

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