Why health systems are buying into genomics

Mount Sinai Health System is launching a center that will conduct genetic-based research on undiagnosed medical conditions.

The system's Center for Undiagnosed Diseases will open early next year, the latest evidence of the money providers are pouring into genomics. Mount Sinai said Tuesday the center will be home to New York City's first undiagnosed disease network, which connects clinicians across the U.S. conducting this kind of research. The health system is receiving a four-year, $3.26 million grant from the National Institute of Neurological Disorders and Stroke for the initiative.

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The center is one of several genomics and precision medicine-related initiatives that New York City-based Mount Sinai has launched in the last few years. A $100 million center dedicated to artificial intelligence and genomics is expected to open later this year. The health system seeks to genetically sequence 1 million Mount Sinai patients within the next five years.

Advances in genomic sequencing and testing software have lowered the cost for health systems to launch programs and test patients on their genetic makeup. While there are still financial and technical barriers to entry, multiple companies offer genomic sequencing and genetic testing technologies, allowing leading health systems to adopt programs across multiple areas of medicine.Programs will only get less expensive to adopt as the technology evolves, said Dr. Bruce Gelb, professor of pediatrics and genetics and genomic sciences at the Icahn School of Medicine at Mount Sinai.

“When they announced the Human Genome Project and that they had sequenced the human genome, it was under President Clinton,” Gelb said. “If I had wanted to sequence somebody's genome the day after that announcement, it would have cost $100 million. Today, as we meet to do that on a research basis, it costs $200 just to do the sequencing.”

Despite the advancements, genomics is still a work in progress. Launching programs is a hard sell to health systems dealing with low margins, said Dr. Seamus Harrison, head of medical at Genomics, a company that uses analytics to identify genetic risk factors in patients for employers, health systems and life sciences companies.

Getting health systems to "pivot from reactive healthcare to proactive medicine is a challenge," Harrison said.

Research institutions such as Mount Sinai and University of Michigan Medicine are receiving grant funding from the National Institutes of Health to jumpstart their genomics programs. In June, Michigan Medicine received $10 million from NIH to establish the Michigan Infectious Disease Genomics Center, which will study the genomics of infectious diseases.

That is only part of the genomics work at University of Michigan Medicine, which has begun to employ genetic counselors that use testing and analysis to determine potential diagnoses for patients. Genetic testing software has taken a process that used to take months and shortened it to one month on the outpatient side and seven days on the inpatient side, said Mallory Wagner, a pediatric genetic counselor.

“We can see a family the day after their baby is born, send them this test, talk about why it's important to do this test and have an answer for them by the time their baby turns 10 days old,” Wagner said.

Insurance coverage has improved too, which makes patients more willing to undergo the testing. The cost for genetic testing varies and can be up to $4,000 without coverage, according to NIH data.

The process isn’t without its technical challenges. It can be cumbersome to integrate genetic testing data into a electronic health record system because Michigan Medicine must stay compliant with the Health Insurance Portability and Accountability Act, Wagner said. It is relying on old technologies to get genetic testing reports in the hands of clinicians.

“Faxing is one of the safest ways to get things sent over,” Wagner said. "I will get a notification via secure email that there's a report ready for me on the laboratories portal, or I will get it faxed to me, and then I have to send it to my team to get it uploaded into the chart.”

Genomics' Harrison acknowledged the challenge, saying the company can deliver its reports to the EHR through a PDF, which is not seamless. Getting its reports to be seamlessly included within a patient’s EHR is part of the company’s long-term plan. GeneDx, a genetic testing company, announced in June that it’s working with Epic to get its results integrated into the vendor’s system. 

Artificial intelligence has many within the industry thinking big. Boston-based Mass General Brigham recently conducted research on whether generative AI can identify which scientific articles contain information that can help geneticists determine whether genetic variants are harmful to patients.

The results of the research, published in the journal NEJM AI in August, showed it is a promising use case for generative AI but the models need more fine-tuning before they could be widely adopted, said Sandy Aronson, executive director of IT and AI solutions for Mass General Brigham Personalized Medicine.