By Monica Heger
This story has been updated from a version published Sept. 10 to include comments from Good Start Genetics, NCGR, and Ambry Genetics.
Boston-based startup Good Start Genetics has raised $18 million in a Series A financing round for the development and launch of its sequencing-based pre-pregnancy genetic screening test, the company said last week. OrbiMed Advisors, Safeguard Sciences, and SV Life Sciences led the financing round.
Additionally, the company has named Don Hardison, former COO of LabCorp and CEO of Exact Sciences, as president, CEO, and director. Hardison told In Sequence that the $18 million in financing should allow the company to reach cash-flow break even, but did not know exactly when.
The company is currently validating its test on known samples and expects to launch it in 2011 to board-certified physicians. It said it would not offer the test directly to consumers because it believes that "the only way to make these truly important decisions is under the professional guidance of a physician, who can evaluate genetic information in the context of a patient's comprehensive medical profile," Hardison said in a statement.
The test will use the Illumina Genome Analyzer to screen for a panel of around 20 genetic diseases, including those recommended by the American Congress of Obstetricians and Gynecologists and the American College of Medical Genetics. These disorders include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease, depending on a person's ethnic background, Hardison told In Sequence. Hardison said that the company would later add additional diseases to its panel, and said that each test could be custom ordered by the physician, and would have a two-week turnaround time.
The company has developed a proprietary capture and enrichment step that is a key part of the test, said Hardison, although he would not disclose details of the technology. "Our ability to have high accuracy and also affordable tests is dependent on the combination of the efficiency of our capture and our ability to analyze several hundred patients on one run of the sequencer," he said.
Hardison said the company would sequence all the exons involved in each disease, and report only known mutations to the physician, although it plans to collect data on unknown mutations. "We're being careful on what we report on. We want to make sure it's a mutation the physician can do something with," Hardison said.
The company will use its own bioinformatics pipeline to analyze the variants. "There's a lot of value in the ability to interpret the data in a format that's physician friendly," said Hardison. "It's more difficult than people think."
Hardison said the company has not nailed down a cost for the test, but said it would be competitive with other genotyping and SNP analysis screening tests. Counsyl, for instance, offers a microarray-based test for $349, and screens for similar diseases that Good Start will target, such as cystic fibrosis and Tay-Sachs disease.
Hardison said he has not yet worked with insurance companies to get the test covered, but he thinks that eventually it will be reimbursed. "In states where there is mandated coverage, we believe the companies will cover it," he said. "However, a lot of the market is self-pay, and we want to make sure we are competitive in that market."
He added that the company is looking to develop partnerships with clinics and hospitals, although he has not yet worked out details. "We have a single-minded focus on the fertility market," he said. "We think it's a large market, and a very important market."
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A Fertile Market
Good Start's test will compete with Counsyl's microarray-based test, which is already on the market, and will also likely compete with other sequencing based pre-pregnancy tests, such as Ambry Genetics' AmbryScreen and the National Center for Genome Research's sequencing-based test (IS 5/18/2010 and 3/30/2010).
The Ambry and NCGR tests will both screen for a more comprehensive set of diseases than the Good Start test. Ambry's test, which screens for more than 90 genetic diseases, will cost $450; while NCGR's test will screen for more than 400 diseases and will cost somewhere between $350 and $500.
Stephen Kingsmore, NCGR's president, said that he expects to launch the test in April 2011. NCGR researchers recently tested it in 104 patients and with 489 different diseases, Kingsmore said, and the next phase will be to finalize the number of diseases they will screen for, and to validate it in a way that is CLIA compliant.
Like Good Start, NCGR will offer its test through physicians, initially at a select number of centers, said Kingsmore. NCGR has already established relationships with a children's hospital in Kansas City, and a children's hospital affiliated with the Max Planck Institute in Germany. "We have also been talking to diagnostic companies and other types of companies," he said, and expect to have agreements with other collaborators within the next couple of months, details of which he would not disclose.
The NCGR will be doing its sequencing on the Illumina HiSeq 2000, and will most likely use RainDance's enrichment technology, said Kingsmore, although the team has also been testing Agilent's custom, in-solution SureSelect capture and enrichment technology.
Additionally, the NCGR researchers will sequence the entire disease gene for each disorder and will report both known mutations and some novel ones, although Kingsmore said they will focus primarily on known mutations. In addition, Kingsmore said they have discovered that some of the known mutations are incorrectly annotated in public databases, and will be reporting those as well.
AmbryScreen, which is scheduled to launch this fall, differs from both Good Start Genetics' and NCGR's tests in that it will only look for and report known mutations. "We don't believe the sequencing of entire genes is appropriate in the context of pre-pregnancy and prenatal screening because of the potential to identify variants of uncertain significance and/or mutations which lead to mild disease, leaving the patient and health care provider in limbo and without options, causing heightened patient anxiety," Ardy Arianpour, Ambry's vice president of business development, told In Sequence in an e-mail.
Ambry's test will also not be available directly to consumers, and Arianpour said that the company is considering partnering with institutions or companies to offer the test, although he did not elaborate.
While the three tests have a lot of similarities, Arianpour said that there were enough differences to set them apart. "Each of the tests cover certain and specific mutations," he said.
NCGR's Kingsmore agreed. He said that while there was definitely some overlap between the tests, there were also slight differences in the amount of sequencing, the mutations called, and the number and types of diseases. Despite these differences, "we all have the same goals in mind," he said.