The FDA is ramping up its approvals of medications related to precision medicine treatment and diagnostics. To tap into this growing field of patient care, some hospitals and health systems are implementing their own precision medicine programs.
"For the purposes of today's discussion...precision medicine is using molecular medicine and genetics to diagnose, classify and treat patients," said Nabil Hafez, MS, senior director of product management, precision medicine at Tucson, Ariz.-based Sunquest Information Systems. On Feb. 1, Mr. Hafez moderated a Sunquest-sponsored webinar presented by Becker's Hospital Review.
Molecular and genetic testing is exploding, and Sunquest shared the numbers to prove it. In 2016, 49,000 genetic tests existed in U.S. laboratories, skyrocketing to more than 60,000 today.
"No other technology has advanced at such a rapid pace," said Mr. Hafez. "But there are real challenges in enabling precision medicine as part of mainstream healthcare."
Anthony N. Sireci, MD, MS, of New York City-based Columbia University Medical Center, and Matthew Lebo, PhD, FACMG, of Boston-based Partners Healthcare, certainly understand the difficulties of launching precision medicine laboratories and shared their experiences and insights during the webinar.
Dr. Sireci serves as assistant director of the Laboratory of Personalized Genomic Medicine at Columbia University College of Physicians and Surgeons. The full-service molecular lab offers genetic diagnostic assays across various service lines, such as germline, prenatal, cancer genomics and some microbiology testing.
Dr. Lebo serves as bioinformatics director and associate laboratory director of Partners Healthcare's Personalized Medicine, Laboratory for Molecular Medicine. Recently, the lab has been diving into exome and genome sequencing.
Build or buy: Establishing precision medicine infrastructure
Columbia University dipped into molecular pathology back in 1999, moving into genomic testing around 2011. Dr. Sireci noted they built the infrastructure in-house. The building process included purchasing the sequencers, building a bioinformatics team and figuring out how data travels from the pathologists to the EMRs.
"We had to build all that from scratch, in addition to building the knowledge base of how to interpret variations," explained Dr. Sireci. Today, commercial vendors have filled that gap. "A laboratory that's just starting today has many more options on the buy side, rather than the build side."
Dr. Lebo agreed, noting the increased support in the industry today. "It depends upon the institution and how much you care about having the data and expertise on the premises, whether you do it in-house or go up to the cloud." It's important to note, however, that high-volume data may require cloud-based solutions for processing.
For EMR connectivity, Partners Healthcare built a genetic application within its Epic platform that receives reports and sends alerts. At Columbia University, Dr. Sireci said they report their results via Cerner CoPath. The institution is transitioning to Epic this year, though, so the EMR connectivity process will change. Dr. Sireci imagines they will strive to deliver results in a searchable format and store them in a clinical data warehouse. Partners Healthcare is a Sunquest Mitogen customer.
Designing a precision medicine initiative
When implementing a precision medicine program, Drs. Sireci and Lebo said it's imperative institutions consider the following four components in their program design.
1. Data is king. "A lot of what drives what we do is the data, so building the repositories and the database is just as important as the results we're getting," explained Dr. Lebo. More than 1,500 molecular genetic databases holding disease condition information exist, so standardization and data-sharing initiatives are helpful.
"You cannot be an expert in every gene in the genome, so having ways to be able to use the expertise available in the community is important," said Dr. Lebo. To offer accurate interpretations, it's critical to update databases and keep a pulse on genes of interest by leveraging bioinformatics.
2. Diagnostics is just one part of a precision medicine program. "We focus so much on the diagnostics portion, but there's an infrastructure that exists in the pre-analytical, post-analytical side of things that don't include the laboratory," said Dr. Sireci, highlighting genetic counseling, return of results and follow-up as necessary areas requiring funding.
3. Understand the economics of precision medicine. Reimbursement also deserves consideration. Dr. Sireci recommended institutions analyze their payer mix, identifying billable CPT codes and assessing coverage policies and contracts. Dr. Lebo also suggested pursuing pre-authorization in cases of expensive tests.
"Many insurers require pre-authorization for all genetic testing. I think that's going to be a pattern of behavior," added Dr. Sireci.
4. Encourage interdisciplinary collaboration. "While I appreciate that science has to move forward and diagnostics has to follow quickly, there's often a disconnect between what is actually clinically useful and what's going to get paid for and what an oncologist will order," Dr. Sireci said.
To handle this challenge, Columbia University formed a new test committee of clinicians, pathologists, laboratory administrators, and coding and reimbursement specialists. The committee discusses the goals of the laboratory and whether requested new diagnostics align with that mission.
Delivering the best actionable data
"As the scope of the assays has increased, we had to figure out ways to deliver back the most relevant data in each instant. We have changed along with the times and are doing a much more focused reporting scheme, even though a lot of that other data is kept in the background," said Dr. Lebo.
Delivering the best data leads to better patient outcomes. Dr. Sireci wrapped up the webinar by sharing how genetic testing allowed a patient to opt out of treatment that would have been ineffective and another patient to receive a tailored treatment that otherwise would have been overlooked.
To learn more about Sunquest, click here.
Listen to the webinar recording here and view the webinar slides here.