BioPharma, Diagnostics

As genetic testing expands, evidence and awareness needed to spur adoption

Genetic tests are becoming available for a wider range of applications. During a CB Insights panel discussion, Phil Febbo of Illumina and Alicia Zhou of Color explained what they think needs to happen to make these tests accessible and affordable for more people.

dna, genomics


Advances in diagnostics have led to cancer screenings that can find the disease at its earliest signs when a therapeutic intervention has a greater chance of success. But making these tests the standard of care will take a little more time. Phil Febbo, chief medical officer at Illumina, said wide adoption will require more awareness of these tests as well as more evidence showing that they work. The gene sequencing giant is doing its part to boost awareness. One of the employee benefits the company offers for those 55 and older is an early detection test.

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“I plan on getting it every year,” Febbo said.

Febbo spoke Thursday during a panel discussion at CB Insights Future of Health conference. He was joined by Alicia Zhou, chief science officer of genetic testing company Color. Illumina might be best known for supplying the reagents and equipment used in genetic testing, including cancer diagnostics. But the company’s offerings now include Grail, a diagnostics company that spun out of Illumina and was required earlier this year. Grail developed a test that detects genetic indicators of cancer from a liquid biopsy, a small sample of blood.

The liquid biopsies from Grail and others are intended to detect cancer early, which in turn enables earlier treatment, Febbo said. To help support adoption of these tests, he said that companies need to generate evidence to show that these tests don’t flag false positives. Febbo said that in clinical trials, the false positives for the Grail test were comparable to established screening tests, like mammography. As more evidence from these tests is generated, the case will become stronger for their adoption, Febbo said.

Zhou said that finding greater adoption of genetic testing will require a change in how such these tests are perceived. The high cost of a genetic test meant that who qualifies for such testing was limited. But those costs have been coming down, which means that genomic testing can be used as a piece of data alongside other factors to assess a patient’s health. Scalability of genetic testing is about dropping the price of these tests and making them more widely accessible, Zhou said.

Covid-19 introduced Color to more accessibility issues. As the pandemic unfolded, the company expanded its scope to include Covid testing and vaccine distribution. That led the company to think about barriers to access, Zhou said. More than just having vaccines available, Zhou said it’s important to bring those vaccines to where people are, such as community centers and faith-based organizations. Those sites need to have flexible hours in order to accommodate those who can’t get away from work during the day. Zhou added that community and faith organizations can also help to overcome vaccine hesitancy.

“The work doesn’t stop when you get the approval for the vaccine,” she said. “You need to think about the distribution.”

Zhou and Febbo said that many of the changes sparked in healthcare during the pandemic are changes for the better. A lot of communication between patients and their physicians has moved to Zoom, and Febbo said patients and providers have come to realize that they don’t need to do everything in person. Zhou said the lockdowns led diagnostic companies to search for new ways of reaching patients. Drive through testing, for example, is not something the industry would have tried if not for the pandemic, she said. Clinicians and diagnostic companies found other workarounds. Zhou noted that some testing previously done with an in-person visit to a clinical site can now be done by sending a test kit to a patient’s home.

“These are things we’ll hold on to after Covid,” Zhou said.

Photo: iLexx, Getty Images