Mark Burkard, MD, still recalls his first official brush with the Human Genome Project.
“I remember going to a national meeting in 2001 where they gave out a DVD with the entire human genome on it,” he said. “I was so excited.”
Mapping the entirety of the human genome was a massive scientific achievement and advancement. But when Burkard popped the disc into a computer, he faced the same question as numerous other scientists across the globe: Now that you’ve got all this information, what exactly can you do with it?
It wasn’t until some years later that investments and advances in technology allowed scientists to fully take advantage of gene sequencing, which then generated the ability to do similar scale sequencing on people’s cancers.
“What we learned from that was shocking, actually,” Burkard said. “We learned that if you took ten different breast cancers that you thought were the same and sequenced them, you’d pretty much find that each cancer is genetically unique.”
When the National Cancer Act of 1971 was signed into law, the field of genomics was in its infancy, and precision medicine was a concept not yet on anyone’s radar. Cancer was largely treated similarly from patient to patient based on where the tumor started.
But with the onset of new genetic sequencing tools – plus a growing number of known cancerous mutations, as well as a growing number of new targeted therapies being developed – Burkard saw an opportunity to create something new at the UW Carbone Cancer Center that could personalize, and potentially revolutionize, the way cancer is treated.
Enter the Precision Medicine Molecular Tumor Board. Created in 2015 under the direction of Burkard and Dustin Deming, MD, it a unique spin on the traditional tumor board, where doctors and other medical experts come together to discuss specific cancer cases to determine the best possible treatment for a patient.
Developed as a collaboration between UW Carbone and three of the state’s largest oncology practices, the new board began reviewing cancer cases based on patients’ specific genetic mutations. For the first time, physicians from across Wisconsin were able to submit genomic reports – free of charge – to a group of experts to review and recommend patient specific targeted therapies.
Over time, state funding has allowed the Tumor Board to forge additional collaborations around the state. Now, five total oncology practices around the state have seats at the Tumor Board’s table alongside UW.
Since its inception six years ago, the Tumor Board has reviewed over 5,500 total cases, with the annual number of cases reviewed increasing every year. Burkard says the board now averages around 1,600 case reviews per year.
Initially, asking both patients and clinical staff to complete an additional task – in this case, genetic sequencing – was somewhat of a big ask. But Burkard says his team has worked to simplify the process. “We’ve really tried to find every barrier and break it down and make it easier for everyone involved,” he said.
That’s meant everything from helping busy physicians fill out case submission forms to working directly with testing companies and insurance providers to streamline the payment process for gene sequencing.
Burkard credits oncologists such as Natasha Edwin, MD at ThedaCare and researchers such Paraic Kenny, PhD at Gundersen as being key partners in this collaborative effort.
Now, Burkard says about 50-100 case submissions come in every two weeks, and usually just a handful of the most unique or complex cases will be discussed during the Board’s twice-monthly meetings. Yet, every case will be reviewed. Physicians such as Elisavet Paplomata, MD and Nan Sethakorn, MD, will sort through and examine every case and suggest any relevant action items such as selection of standard therapies or potential clinical trials.
In many cases, the sequencing and review process opens up new treatment possibilities through clinical research throughout Wisconsin, preventing patients from having to travel great distances to additional care.
“There are these people who have tumors with rare mutations, and there are new drugs coming out for rare mutations, but if you don’t find them, you can’t have the clinical trial in a place the patient can access,” Burkard said. “That’s why we started trying to break down all the barriers to sequencing, and at the same time, start building the infrastructure for the precision trials. And now we have trials for some very rare variants.”
Another benefit to patients, Burkard says, is that genetic sequencing can sometimes turn up unexpected results. “We find some patients who thought they had one type of cancer and the drugs weren’t working and the genomic profiling says, no, that’s not the type you thought it was,” Burkard said. “There was a recent example of a pancreas cancer that had a lung cancer mutation in it. So letting that patient receive a different therapy was actually better for them.”
Burkard also notes that genetic sequencing sometimes turns up a gene, such as BRCA2, that a patient didn’t know they had. “We can then recommend that patient do genetic counseling, if they haven’t done that already, so they can notify family members if a gene could be inherited,” he said.
The Precision Medicine Molecular Tumor Board has also provided researchers with key data from each case, which helps guide future treatment decisions and can inform other research projects. Medical oncologists, Burkard said, also use the information as an educational tool for their trainees.
“We learn a lot about our patients, and it inspires us to try and understand what’s going on with individuals or groups of patients with unusual cases,” he said. “But at the end of the day, I think the biggest win is for the patients.”
Want to learn more about the Precision Medicine Molecular Tumor Board? See more stories about precision medicine and more on the Tumor Board’s news page.