How genomics and precision medicine are impacting routine care today

As a result of genomics being a big part of medical research in recent decades, numerous tests have passed the clinical evidence threshold into standard of care (SOC) and are reimbursed as medically necessary.

Furthering precision medicine’s impact will depend on these test penetrating routine patient care in upcoming years.

During a workshop sponsored by Illumina at Becker's Hospital Review's 13th Annual Meeting, experts discussed how genomics and precision medicine are rapidly evolving from a cutting-edge technology to the standard of care, particularly in oncology, genetic disease management and pharmaceutical therapies.

Illumina is an applied genomics technology company making genomics accessible for all. Since 1998, this California-based company's mission has been to improve human health by unlocking the power of the genome. Illumina provides innovations that are enabling researchers and clinicians to usher in the future of personalized medicine in over 140 countries. 

The session started with a quick introduction to Illumina by 

  • Emma Decker, Lead, Health System Strategy, Illumina
  • Theresa Garcia, lead, Lead, Health System Strategy, Illumina

The session continued with a moderated discussion by 

  • Damon Hostin, Lead, Health System Market Access, Illumina
  • Ora K. Gordon, MD, Clinical Director, Population Genomics Program, Renton, Wash.-based Providence Health

During their discussion Mr. Hostin posed questions to Dr. Gordon and Dr. Gordon responded with her insights on the opportunities and progress towards precision medicine and impact to community health today.

Five key takeaways were:

1. Genomics has moved from innovation to the standard of care. "What was once visionary is part of routine care for many hospitals today," Ms. Decker said. "In fact, as of March, two of the largest commercial insurers now broadly cover whole genome sequencing for patients that have a suspected rare undiagnosed disease in the outpatient setting. We have gone from genomics being a groundbreaking technology to payers deeming genomics medically necessary with predictable coverage and reimbursement."

2. The value of genomics aligns well with health systems' overarching strategic imperatives. "Health systems are thinking about how they can improve health outcomes while making care more affordable - as well as how to make care more accessible and equitable," Ms. Garcia said. "All of these are challenging topics; there are no simple solutions. However, genomic-driven capabilities can help health systems accomplish these goals."

3. Mr. Hostin opened the conversation with Dr. Gordon about the progression of genomics in the system. Providence Health had first adopted a genomics-first approach to treating cancer through Comprehensive Genomics Profiling. According to Dr. Gordon, Providence Health moved from using these tests as a "last-ditch effort after three failed therapies" to a genomics-first approach. "In partnership with Illumina, we are now sequencing every solid tumor because we believe there's an application for first-line therapy as well as a trajectory for best-line therapy," she said. 

4. In addition, Providence Health is working to apply genomics to the highest-risk patients to make the biggest positive difference. For example, Providence Health's largest audience for routine screenings is women scheduling mammograms. "We use an AI-assisted chatbot to evaluate risk," Dr. Gordon said. "If they meet national guidelines for hereditary risk assessment, they are offered video education, consent forms and same-day testing. This is to diminish many of the barriers to the opportunity for genetic testing.

"The result is that those women who may perceive themselves to be at elevated risk, but are actually not, are reassured and avoid excessive screenings and unneeded interventions," she said. "We can then focus on those who are at the highest risk as well as tailor our treatment, screenings and interventions. Genomic information means nothing if you don't integrate it into whole person care."'

5. Genomics can help providers select the most effective medication for patients. "We know that people respond differently to medications," Dr. Gordon said. Using genomics, patients can be given a medication that is most likely to be effective and least likely to produce a negative adverse event. "Think about what that does to keep adverse events out of your emergency department, to reduce the high cost of care, to decrease the delay in therapeutic response, to improve quality of life and to empower patients to be more committed to their medication." 

For Providence Health, genomics has helped further its focus on the whole person and implementation of precision medicine. "For us, this means we're trying to keep people as well as possible, in the easiest way possible and in the most cost-efficient way possible," Dr. Gordon said.

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