NEW YORK (GenomeWeb) – Good Start Genetics, a Cambridge, Mass.-based firm that markets a next-generation sequencing-based carrier screening test, has plans to develop a preimplantation genetic screening test based on NGS technology it licensed from Johns Hopkins University and plans to eventually move into the noninvasive prenatal testing market.
The company's goal is to transition from a one-test provider to a full-service genetic testing company in the broader reproductive health market and potentially other markets that capitalize on the company's NGS expertise, CEO Don Hardison, told GenomeWeb.
"We're going through a strategic review now," he said. "One of our clear [areas of] expertise is around next-gen sequencing," and the firm is looking at "markets to apply interesting applications of next-gen sequencing, both inside and outside of reproductive health."
In the last month, the company has struck two deals that will be crucial for expanding its business: a licensing deal with Johns Hopkins and an agreement with Valencia, Spain-based IviGen and its parent company iGenomix, under which Good Start will sell the Spanish firms' tests in the US.
Good Start will serve as IviGen's "commercial arm in the US" for its preimplantation genetic diagnosis and screening tests, products of conception testing, endometrial receptivity arrays, and sperm aneuploidy testing, Hardison said.
In addition, Hardison said that the company would like to work with IviGen to develop NGS versions of some of their existing tests.
PGS and NIPT
Good Start plans to tap into the preimplantation genetic screening market through its licensing deal with Johns Hopkins University.
The firm licensed technology called FAST-SeqS for Fast Aneuploidy Screening Test-Sequencing System, which was developed by Bert Vogelstein, Ken Kinzler, Isaac Kinde, and Nickolas Papadopoulos at Johns Hopkins University. In their original PLOS One study, the researchers described the technology for use in noninvasive prenatal testing for fetal aneuploidy.
However, Good Start said that it plans to develop a preimplantation genetic screening test based on the FAST-SeqS technology.
Similar to commercial tests for noninvasive prenatal screening for fetal aneuploidy, the FAST-SeqS method relies on a shotgun sequencing approach and statistical methods to call aneuploidy by determining whether the proportion of sequence reads that align to a given chromosome is above a certain threshold. However, it has a unique pre-sequencing step that makes use of a single primer pair to cull and amplify sections of the genome that occur on every chromosome with small, identifiable differences.
Other NGS-based PGS tests are currently available or in development, including Illumina's VeriSeq test, a single-cell whole-genome sequencing test that screens embryos for aneuploidies that Illumina launched in April. The Reproductive Medicine Associates of New Jersey is currently conducting a clinical trial of an NGS-based PGS test that uses Thermo Fisher's Ion Torrent PGM. And Peking University has also been conducting its own clinical trial for preimplantation genetic screening.
Hardison said that the company evaluated other options for a PGS test, but licensing the Johns Hopkins technology "made the most sense for what we wanted to do."
He declined to say when the company would launch its PGS test, but said it would be "as soon as possible."
Adding a preimplantation genetic screening test to its portfolio made sense as a next step, Hardison said, because it will allow the company to use its existing sales force and "give them other tests that they could be selling to the [same] physicians" primarily within fertility centers.
Hardison said that the company is also interested in entering the highly competitive NIPT market. "One of our plans has always been to move into the higher risk pregnancy market," he said. He added that as the company expands from the fertility center market into the maternal fetal medicine market and eventually into the Ob/Gyn market, "it will be important to have other tests to offer."
He said that, potentially, the firm could develop an NIPT test based on the FAST-SeqS technology, and added that there are "other potential uses of the technology that we're not ready to talk about yet."
Hardison said that the company is gaining traction with its NGS-based carrier screening test, which evaluates carrier status in up to 23 disorders including all those that are recommended in guidelines set by the American Congress of Obstetricians & Gynecologists, the American College of Medical Genetics and Genomics, as well as societies supporting the Ashkenazi Jewish population.
This summer, the company published clinical validation data for its test, which uses a molecular inversion probe sequencing strategy.
The firm struck a sales and marketing deal with PerkinElmer, which Hardison said is "starting to ramp." PerkinElmer sells to maternal fetal medicine clinics and a select group of Ob/Gyns, which is a "very competitive marketplace." So, while it has been a "slow process," they are "starting to see more volume coming in."
Good Start sells primarily to fertility clinics, and Hardison said that the company is starting to build clinical data demonstrating the utility of its test. For example, he said, the company has presented data from its first 50,000 clinical cases showing a number of carriers that would have been missed by other tests. "There are mutations that we find that other players in the field don't find, that we think are pathogenic," he said, adding that the company would likely submit its findings for publication in a peer-reviewed journal soon.
Hardison said that competitors include Counsyl and Natera, which both offer carrier screening panels, as well as some universities that have their own carrier screening panels, such as Emory Genetics Laboratory, Baylor College of Medicine, and Mt. Sinai Icahn School of Medicine.
He declined to disclose the price of the test, which varies depending on which disorders a physician orders, as well as how much insurance companies are reimbursing. In general, though, he said that reimbursement has been going well. And, he said that physicians have been ordering more disorders per patient, which has driven the average selling price up.
The company does not have plans to bring its test, which has New York State approval and is run out of CLIA-licensed and CAP-accredited laboratory, through US Food and Drug Administration clearance. "We try to run the business as if we were under FDA-type controls," Hardison said, "but we don't plan to go through the FDA."