DNA, doctor using tablet
Source: ipopba/Getty Images

Molecular diagnostics for everything from cancer testing to what medications doctors should prescribe—or not prescribe—for heart disease, mental health and a host of other conditions have been steadily increasing their share of the diagnostics pie over the past five years. That was until COVID-19 and the subsequent, ongoing global pandemic changed the way the world—and laboratories—worked.  While the business model for these diagnostics tests has been forced to change dramatically and adjust to a world where it is not easy or possible for all patients to access a clinical lab, this forced change could result in improved products and easier access for patients.

As face-to-face interactions with doctors and in-person visits to diagnostics labs decreased in the face of the pandemic, a few genomic testing companies have managed to quickly reinvent themselves to create a dynamic system of providing patients and their physicians with the tests and results they need. The tools they use are a combination of telemedicine—where patients can speak to their doctors and other medical providers virtually—and at home testing kits, making it possible to continue to provide patients the same advanced medical diagnosis while maintaining social distancing.

This change was aided by a shift in recent years, where researchers and clinicians have been focused on reducing costs and increasing patient accessibility to NGS testing, and had so far been moderately successful. This has resulted in simplified and streamlined processes for gathering and processing samples.

At-home PGx

One business that has adjusted to social distancing is Genomind, a genomic sequencing company with assays designed to identify mutations associated with mental health and prescription medications—conditions impacted by stress and anxiety levels in patients. The ten-year-old company continues to develop pharmacogenetic testing, with a number of panels that cover most mental disorders. Their latest test is called PGx Express Test, a ship-to-patient assay that allows the patient to collect their own samples and send them to the lab for testing.

Shawn Patrick O’Brien
Shawn Patrick O’Brien
CEO, Genomind

Shawn Patrick O’Brien, CEO at Genomind, explained that lack of access to care has become very apparent in the current environment. “Mental health issues are on the rise during COVID-19,” he said. “Those that have been able to manage their lives effectively prior to COVID are finding this new, unknown stressor in their lives and it’s creating havoc for them.”

O’Brien noted that in certain small towns there have been a record number of suicides in the past few weeks. “What we have is an access issue here. Patients don’t have access to the physician. Right when the need for the mental health patient is increasing, we’re having a distribution of mental health care problems. And so we said, ‘Okay, we have to help solve this.’ We’ve taken basically five steps to do this.”

These steps are intended to simplify the process of getting patients tested without the need for an in-person visit with their healthcare provider. Under this new protocol for Genomind the physician prescribes the test, the company ships a test kit to the patient overnight, and the patient sends the sample back to the lab. The lab can then conduct the sequencing, and supply the information to the provider and patient to inform clinical decision making.

“The other aspect that we’re working on is not just directed at patients, but enabling physicians to get on telemedicine or telepsychiatry,” O’Brien noted. “The government has put in waivers to facilitate this in four different ways.”

Genomind test kitBy mid-April, 500 test kits had been shipped to patients’ homes since the Express Ship-to-Patient service launched on March 19.

“In the past, physicians [could] only practice in the states [they] have a license. CMS removed that requirement, so you can now have cross-border practice of telemedicine,” O’Brien noted. CMS has removed cross-border prescriptions for licensing locations and, previously, physicians were required to have a face-to-face meeting before offering telemedicine services to patients. That’s no longer a requirement. In addition, CMS now reimburses physicians for telemedicine. This is creating channels to physicians.  “And so our job is to help them,” he said.

Another tool Genomind offers is a drug consult called G-DIG, a software that can compare the genome of an individual to a library of medications and personalize the selection and ensure no adverse reactions occur.  As Dan Dowd at Genomind explained: “Everyone’s shifting to telehealth now so the provider can do the consult on telehealth. There’s now a process of making pain management guidelines [based on genetics] for opioid medications. There will soon be a guideline for some gastrointestinal medications. So, over the last couple years that has become standardized.”  The ability to have all this information at your fingertips and relay it remotely to patients is a big improvement in the field of mental health.

Getting ahead of reproductive screening

Genomind is not the only genomics company conforming to this new business reality.

Sema4, a genomic testing company that specializes in reproductive genomic counseling and helping couples looking to conceive, has shifted its onsite staff to work on different days and at different times, in order to adhere to social distancing guidelines. The company, a spinout from Mount Sinai, needed to develop a system for laboratory technicians to perform the sequencing work in a lab.

Jamie Coffin
Jamie Coffin
president and COO, Sema4

Jamie Coffin, president and COO at Sema4, explained that genomic testing for reproductive health is a complex process, where tests results from both parents need to be compared, and timing is very important for success.

Before the pandemic, patients would come into the clinic to get all of their testing done, but now Sema4 is sending spit kits to the patients to be sent back for sequencing, and have shifted their genetic counselors to telemedicine. Coffin noted that it was a challenge to make the jump to providing some of their services virtually but he’s happy with how the staff has adjusted, though they are eagerly awaiting a return to normalcy.

Because reproduction is such a complex and interdisciplinary field, much of the actual clinical work must be put on hold, but the genomic testing can be completed ahead of time. Coffin said he expects patients to start to return for limited clinical services, such as in vitro fertilization, soon.

Addressing the cost of testing

Prometheus Biosciences, in San Diego, has taken a different approach to how it conducts business in light of the pandemic, launching its Monitr COVID-19 Assistance Program for patients who have been monetarily affected by the shutdown. “During these unprecedented times, our focus at Prometheus continues to remain on the patients we serve. We are providing qualifying adult Crohn’s disease patients impacted by COVID-19 with an effective disease-monitoring test at no cost,” said Mark McKenna, president and CEO of Prometheus.

While many companies have focused on the physical sense access to testing, McKenna’s approach to providing testing to those who need it considers the reality that access to healthcare often has significant financial implications. In light of spotty reimbursement and the fact that genomic testing can be expensive, Prometheus’ assistance program seeks to address the financial hardships some may be experiencing during that pandemic via free access to testing.

In a similar vein, cancer informatics and digital pathology provider Inspirata has announced a free remote pathology initiative, available to healthcare institutions looking to provide flexibility to their staff during COVID-19. This service will allow all healthcare institutions in need of remote pathology to submit glass slides or upload scanned images that can then be seamlessly and securely shared with colleagues across the world.

While many anticipate continued challenges for genomic testing businesses affecting a host of clinical services in the coming months and possibly years, it appears the genomic testing could be a bright spot in the aftermath of this pandemic, as companies are forced to test new models of doing business in a world still coming to grips with how to operate in a less mobile world.

The ability to collect non-contaminated samples remotely from patients and generate the data from these tests to be used to inform clinical decision making is but one aspect. There is also some hope that the lessons learned from working through the COVID-19 pandemic will translate from the field of genomics into other types of practice, including increasing access for rural patients, accommodating patients who might not be able to afford treatment, and working collaboratively with different clinicians and testing companies to provide the best possible care.

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