Good Start Genetics has expanded the disorders it covers in its sequencing-based preconception carrier screening service to 23 after launching a more limited panel in April.
The company announced the expansion at the annual meeting of the American Society for Reproductive Medicine this week. According to Good Start's CEO, Don Hardison, feedback from early and potential customers drove the addition of nine disorders – mostly relevant to parents with a Jewish background – to the original 14 offered in April.
The current test menu covers all 23 diseases 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, the company said.
Hardison told Clinical Sequencing News that he couldn't provide detail on how many customers Good Start is now serving. But he said the company is seeing faster adoption of the service than it anticipated among the fertility clinics it has targeted as first customers, as well as growing interest from other markets, including the OB/GYN and maternal-fetal medicine communities.
"We seem to be finding with physicians and clinics around the country [that] we are getting calls from them now instead of us calling them. And not just reproductive endocrinologists, but calls from OB/GYN and maternal fetal medicine practices who are interested in what we are doing," he said.
According to Hardison, Good Start's Cambridge, Mass.-based laboratory is now CLIA certified and accredited by the College of American Pathologists and the company is currently seeking approval from the New York State Department of Health.
Most of Good Start's testing is done using targeted sequencing via a proprietary target capture method the company developed to isolate genes of interest for pooled sequencing on the Illumina HiSeq 2000.
Last year, Good Start shared data from a technical validation study showing that it was able to detect all 93 previously characterized mutations in a set of 56 samples, and also identify an additional novel mutation. Physicians can order testing covering as few or as many of the 23 disorders as they want for a particular patient, depending on his or her ethnic background or family history. While all the genes are captured and sequenced, the analysis and report is only done for those ordered (CSN 10/26/2011).
As part of the testing process, Good Start uses its own in-house genetic counselors. "From talking to lots of physicians and our clinical advisory board … we made a decision early on that any time we saw a positive result we would make sure they would not have to wait to get a report back. We would have someone — a genetic counselor — call them and talk to them about what we found," Hardison said.
"We want to make sure people understand what the repercussions are and it also takes some of the work off these physicians. [For] us to help them and their counselors or patients through this process seems to work out really well for everyone involved."
The company's main advantage over current preconception carrier screening methods such as genotyping tests from companies like Counsyl and Ambry Genetics is the larger number of mutations it can detect in the genes it scans, and its ability to easily add new pathogenic gene variants as they are discovered.
Good Start was recently joined in the preconception sequencing space by the University of Medicine and Dentistry of New Jersey's Institute for Genomic Medicine, which is now offering a sequencing-based cystic fibrosis carrier test, as well as additional testing for newborns (CSN 9/5/2012).
Last year Hardison said the company was moving forward with additional clinical validation studies to better establish that Good Start's sequencing approach does as well or better than other carrier screening tests.
Hardison said last week that the research has yielded results the company is "proud of." He said that Good Start is in the process of submitting results for publication from studies of whether its test detects variants that would have been missed by other approaches.
"We are starting to see some really interesting things there. We know that sequencing finds things that other people would miss," he said.
Hardison said he was "reluctant" to discuss the company's sales progress or adoption of the test in its target market, but said Good Start is now "fully staffed in our sales organization," and receiving samples from across the country on a daily basis.
"We are not only penetrating into [new] markets but [also getting] additional physicians within some of these big clinics to start using us," he said. "We start out with one doctor who wants to give us a try. Before you know it you've got two, three, or five … It's been very encouraging."
Hardison also declined to discuss pricing for the test, though he said that Good Start is overwhelmingly being paid by insurance, and rarely by patients out of pocket.
"The price is different based on what's offered – there is a list price, based on the codes that we bill. We send those to the insurance [companies] and they pay us what they normally pay for those codes," he said.
"What we've tried to be is competitive with the big lab providers and what they charge for comparable testing. The average selling price has met our expectations," he added.
Hardison said the company hasn't yet analyzed the rate at which physicians tend to order a complete complement of the 23 disorders or choose just a few.
According to Hardison, Good Start is also still assessing whether there are testing areas beyond preconception screening, like cancer, where its platform might have potential.
"A lot of people are working on things with NGS and we want to make sure we are not limiting ourselves if we don't have to," he said.