Though more and more academic centers and genetic testing firms have introduced microarray-based screening for constitutional abnormalities in recent years, the offerings are not accessible enough to the pediatricians who are most in need of the test, according to Michael Paul, CEO of Salt Lake City-based Lineagen.
Paul told BioArray News this week that Lineagen's new chromosomal microarray testing and genetic counseling service, dubbed FirstStepDx, aims to appeal to pediatricians who are charged with treating children with possible autism spectrum disorder or developmental delay.
To support the rollout of the new test, as well the development of a next-generation assay, the company is also seeking to close a $15 million round of Series B financing. The firm's current investors have already committed $5 million toward the round.
Lineagen has no shortage of competitors in the array-based constitutional genetic-testing market. Also offering similar tests are firms like PerkinElmer's Signature Genomic Laboratories, Ambry Genetics, Combimatrix Molecular Diagnostics, as well as major academic centers like Emory Genetics Laboratory and Baylor College of Medicine Medical Genetics Laboratories.
According to Paul, though, it can take months to see specialists at some of the leading academic centers, an issue that pediatricians may find challenging as they seek to treat children.
And even though the American College of Medical Genetics revised its guidelines in September 2010 to make CMA the standard of care for diagnosing ASD and DD (BAN 9/28/2010), most patients who should be getting tested are not, Paul said.
"Ten to 15 percent of the pediatric population should be tested, but if you look at all of the tests being run today, only about five percent of the intended population is currently getting the standard of care in medical testing," Paul said.
According to Paul, Lineagen can provide pediatricians with actionable information that may lessen the severity of their patients' disorders by enabling earlier intervention.
"While CMA is in use at the academic centers, the difficulty is happening at the community pediatrician level," said Paul. "Most pediatricians deal with ear infections and vaccinations, so when they see a kid with developmental delay, they need help," he said.
According to Paul, some therapies are known to make a difference in ASD and DD patients if applied early. While such therapies can be effective if applied when the patient is as young as 18 months old, diagnosing a genetic abnormality typically occurs later, around ages four and five, he said.
Paul cited a study in the journal Pediatrics that indicated that early diagnosis coupled with intensive behavioral intervention can "make a profound positive difference to the lives of children with ASD and their families."
If a diagnosis is not available until the child is four or five, "critical time is lost," said Paul. He also noted that Lineagen provides pediatricians with a personalized report for their patients that can be referred to later when the child is seen by a specialist.
"That way they can be better prepared so that that visit is much more efficient," he said.
FirstStepDx is run on the Affymetrix GeneChip platform. Paul said that Lineagen selected Affy because it had used the firm's arrays in its R&D activities and was familiar with the technology. He did not elaborate.
Lineagen has partnered with an undisclosed certified clinical laboratory to run the tests. The price of the service, including genetic counseling, is $4,300, Paul said.
Lineagen's new service is currently offered only in California, Oklahoma, Colorado, Connecticut, and Utah. Paul said the company will add other states during the year, but wanted to introduce the service "carefully" before expanding.
"We want to provide a solution to a complex problem and do the job carefully," he said.
He also acknowledged that research to date has shown ASD to be a "heterogeneous, complex disease," and said that Lineagen and others offering genetic testing must be "very vigilant in regards to new findings."
That being said, Paul argued that Lineagen has a "good set of criteria to report discoveries of new findings to doctors" and said that, ultimately, "people need to help push [microarray-based testing] forward, so that we can help kids."
Lineagen was founded in 2002. Originally focused on research, the company in 2006 began to offer diagnostic services, with a focus on ASD, multiple sclerosis, and chronic obstructive pulmonary disease.
In 2007, Lineagen closed a $5.8 million Series A round, and it raised another $5 million last year. Current investors include Sanderling Ventures, vSpring Capital, PrairieGold Venture Partners, and Mesa Verde Venture Partners.
According to Paul, the initial funding financed research projects with partners at the Children's Hospital of Philadelphia and the University of Utah. That same discovery work will inform the creation of a next-generation FirstStepDx test that the firm hopes to introduce later this year, Paul said. The second-generation test will contain markers identified during the research projects that are relevant to ASD and DD.
That will require more money and the company is now "progressing" towards closing a $15 million Series B round, with help from existing investors. Paul provided no timeline for when he expects the round to close. Paul said the new financing will support assay and product development, the expansion of the firm's lab operations, the hiring of sales personnel, and additional research.
Paul said it is possible that the next-generation test will be based on the Affy microarray platform, but that the firm is looking at other technology platforms. "We want to be more content focused and less technology platform dependent," he said.