WASHINGTON -- At the conference on Thursday experts in genomics explored the opportunities and challenges for the field, with a special focus on pharmacogenomics.
One expert on the panel said his goal is "to make pharmacogenomics boring."
"I don't want to talk about 'I'm doing pharmacogenomics.' I want to say, 'I'm doing routine care that's been flavored by genomics,'" said Mark Dunnenberger, PharmD, Director of pharmacogenomics in the Center for Molecular Medicine at the NorthShore University Health System in Evanston Ill.
"When we're able to do that, then we're really going to be able to see the value of genomics in medicine."
After having his own genome sequenced, Keith Stewart, MB, ChB, director of Hematology and Medical Oncology at the Center for Individualized Medicine at the Mayo Clinic, learned he was a carrier of four conditions, but did not carry a mutation for the disease he'd been most concerned about. His aunt had had three children with the illness, one of whom died at birth.
Stewart's mother and aunt were monozygotic twins.,
However, after two separate genomic sequencing tests, Stewart learned that he might have a mutation that impacts his heart rhythm and that he should think carefully before taking a specific statin as it could lead to muscle pain, weakness, or trouble standing. He was also warned not to take certain HIV drugs or drugs for certain cancers, which could lead to an adverse reaction.
Stewart shared this personal anecdote as an example of why genomics and in particular, pharmacogenomics -- a scientific field that aims to identify the right treatments for the right patients -- matters.
With 1.5 million adverse drug events each year, having a way to better tailor treatment to patients and potentially avoid such errors is important, said Stewart.
The Mayo Clinic does integrate pharmacogenomic data into its electronic medical record system, thus in 2016 Mayo physicans received 5,000 alerts urging caution when prescribing a specific drug to a specific patient.
Dunnenberger pointed to another benefit of sequencing patients genomes.
By engaging patients in their treatment process, they feel more empowered. This feeling of empowerment can lead to better adherence, Dunnenberger said.
In turn, improved medication adherence leads to fewer hospitalizations, which can leads to lower healthcare costs, he said.
While he concedes many of the studies on this issue aren't well-designed, the research shows a "strong signal" that pharmacogenomic testing has cost savings, Dunnenberger said in a follow-up email to 番茄社区.
In addition to the promise of pharmacogenomics, panelists also addressed challenges to the field.
One of the greatest challenges is finding a way to make the information easy to understand and easy to access.
"There's no way for most EHRs to support genomic results today," said Stewart.
When the Mayo Clinic performs genetic testing that information is printed in a lab report and retained in a PDF file, he said. But a year later, a physician may never find that data.
The clinic is working with EHR providers to develop solutions, beginning with finding ways to include discrete entries, just as one would see with a patients's hemoglobin count. It is also considering storing the information in a cloud outside of the EHR.
"We've got a lot of work to do," Stewart said.
The solution at NorthShore University is a system that takes PDFs scrapes the essential discrete data, places it in a central repository, and returns that information to the electronic medical record, said Dunnenberger.
Giving physicians one standard place to find the information allows them to build a review of genomic data into their routine care.
Another obvious challenge is physicians' reluctance to engage patients in pharmacogenomic testing.
Many physicians worry it will eat up too much of their time, he said. Physicians will say, "I have 15 minutes with my patients, you want me to talk for 10 minutes about the legal [and] ethical issues associated with genomics" as well as how to treat their blood pressure, Dunnenberger said.
"We're building different tools to reduce this anxiety for the clinician, he said.
There are alternatives, he said, noting that NorthShore is working to create education modules to explain these issues ahead of time, before the patient visit. NorthShore also has a specialty clinic in pharmacogenomics, where physicians who are interested in helping patients with that aspect of their care can refer patients, if they don't have time to explain these complex test results to patients.
Also, insurers want more proof that pharmacogenomic data is valuable, Stewart said.
These are valid concerns "because we still need more evidence."
"There are definitely patients in whom [pharmacogenomic] testing is appropriate and [for] that insurance coverage should be available," wrote Stewart in a follow-up email to 番茄社区.
He cited situations where there is a clear drug intolerance, or a lack of predicted activity or increased sensitivity to a treatment as examples.
However, "with respect to preventive testing in healthy people, we still need more evidence of economic impact and, or safety outcomes," he added.