CHICAGO (GenomeWeb) – Lineagen this month announced a partnership with telehealth service provider PWNHealth to expand the reach of its genetic tests for developmental delay and autism spectrum disorder into the consumer market. Through this partnership, Lineagen also will develop technology that streamlines the ordering process for its tests while maintaining the requisite oversight and guidance of licensed clinical providers and genetic counselors, the partners said.
Historically, Lineagen tests, including a chromosomal microarray assay called FirstStepDx Plus and a whole-exome sequencing test called NextStepDx Plus, have had to be ordered by clinicians at institutions and laboratories that contracted with the Salt Lake City-based company. Now, families will be able to initiate testing requests through the PWNHealth telehealth portal.
Lineagen claims on its website that FirstStepDx Plus has proprietary technology that effectively doubles the rate of detection of genetic markers related to autism spectrum disorder. For the whole-exome NextStepDx Plus test, families may opt for evaluation of secondary genes, unrelated to autism or developmental delay.
Since launching its commercial services in 2010, Lineagen has tried to make genetic testing more accessible to families with children who show signs of autism or developmental delay, according to Rena Vanzo, the company's vice president of clinical genetic services.
Vanzo said that Lineagen made a conscious decision to use clear language in its test reports so families and physicians alike could understand the results, and has taken other patient-friendly steps. "We brought on a cheek swab because blood draw can be very challenging for children with autism and these heightened sensitivities. And then we also assisted families with the insurance and the appeals process," said Vanzo, a licensed genetic counselor.
To date, Lineagen has worked with more than 30,000 families through its clinical partners, helping children with neurodevelopmental issues and their parents navigate the "diagnostic odyssey," Vanzo said.
"But even in the face of all of that, these families were on wait lists to see the doctors that were ordering the tests for them. It was really important to us to consider how to change this paradigm and let families act whenever they notice there was a need to act rather than sit on a waitlist for months or sometimes even years," she noted.
Neuroscientist Robert Ring, a former chief science officer of Autism Speaks and former head of the autism research unit at Pfizer, serves as a strategic advisor to Lineagen. He said that wait times for the testing that could lead to an autism diagnosis represent a severe barrier to "unlocking the door" to many services that could help developmentally disabled children.
"This type of partnership between Lineagen and PWN helps bring providers to the patient and helps in that process to reduce the barriers and improve the access to the important value that genetic testing can provide these families in their search for services and a diagnosis," Ring said.
Lineagen has incorporated the Modified Checklist for Autism in Toddlers, or M-CHAT, an American Academy of Pediatrics-supported behavioral screening tool, into its technology platform, President and CEO Michael Paul said.
In setting up the new partnership, Vanzo said that she worked closely with PWNHealth Medical Director Paldeep Singh Atwal to design additional clinical questionnaires and protocols for collecting the proper information on children and their families via the telehealth portal in order to recommend the proper genetic test.
New York-based PWNHealth, in business since 2015 but with a heritage stretching back 17 years, has built a nationwide network of clinicians and labs to provide remote diagnostic testing services and related support through its connectivity platform. Its roster of health professionals includes genetic counselors, care coordinators, and PharmDs, according to Atwal, a board-certified physician in clinical genetics and medical biochemical genetics.
"[We have been] largely supporting employer health, closing gaps in care for payors and health systems, and consumer-initiated testing and traditional clinical chemistry," Atwal said. Three years ago this month, PWN acquired Bind Health, a genetic testing and counseling startup.
"That brought in the infrastructure like a telehealth counseling platform that allowed [our genetic testing] to grow," Atwal said of the acquisition.
PWNHealth Chief Commercial Officer Bill Paquin said that his company's role is to serve as independent clinician oversight for tests it arranges.
The company evaluated the clinical validity of each test offered by its lab partners, developed its own eligibility protocols based on national guidelines, validated lab processes, and reviewed how labs report results. This, according to Paquin, is to "make sure that what's being shared in that user experience meets both the science and the needs of the patient."
PWN involves genetic counselors in both the up-front eligibility review process and in post-test management of test results. "We also have the capability to connect back into care when called for," Paquin said.
In the case of genetics, that connection means referring patients to "traditional healthcare" when PWN is able to identify a clinical risk for a disease, Paquin said. It also means doing so sooner than previously possible, helping to increase the chance patients have of qualifying for public assistance.
Vanzo noted that the state of Utah provides free occupational, physical, and speech therapy for patients 3 and younger with autism spectrum disorder. "In many cases, having a genetic diagnosis will allow one to automatically qualify, so that can help jumpstart the process," Vanzo said.
Atwal has practiced medicine in multiple states, and said that this type of policy is common. Unfortunately, many children do not get a definitive diagnosis at such a young age.
"In the historical data Lineagen has, where we've gone through the standard paradigm for our genetic testing, the average age of the child we test is between four and five years of age. Of course, that's too old at that point to qualify for some of these services," Vanzo said.
A genetic assessment is beneficial for older children on the autism spectrum as well, too. "Knowing a specific genetic diagnosis can help one's physicians really personalize care based upon what we know about that genetic condition," Vanzo said.
As a genetic counselor, Vanzo knows that families are concerned about the development of their children well before age 3. Often, they just wait and see if the toddler "recovers," she said.
"By working with PWNHealth with this new infrastructure, we really hope to change that paradigm [and] give parents control to take action when they need it most at the beginning when they can take advantage of some of these opportunities," Vanzo said.
The more than 30,000 families Lineagen has served have provided rich data on autism spectrum disorder or developmental delay. From that cohort, the company has been able to tailor its testing for the 20 to 30 most common genetic conditions it has seen, but there are plenty of other variations that could indicate a developmental disorder.
"With the genetic counseling that will be supported by PWNHealth, we will be able to adequately inform the families to know what has been ruled out and what conditions may still exist and give them guidance about how to take this information back to their medical home so they can continue on this diagnostic odyssey to maybe find an answer," Vanzo said.
The medical home, sometimes called a patient-centered medical home, is a concept that emphasizes care coordination and prevention by a primary care physician through all stages of life.