Precision Medicine and the Brain Tumor Community

Your 1p/19q co-deletions, or lacktherof, matter. These genetic markers as well as the IDH1 gene have always mattered in the brain tumor community, but now they’re commanding actual change for diagnostic and treatment purposes.

Since the May 2016 World Health Organization (WHO) central nervous system (CNS) reclassifications, genetic testing within the brain tumor community matters more than ever. WHO CNS reclassifications have changed how brain tumor patients have been diagnosed, now only either with an oligodendroglioma or an astrocytoma, bidding farewell to the diagnosis of an oligoastrocytoma mixed grade tumor. This distinction has financial, physical, and emotional implications for more specialized treatment for patients. Because of the rise of treatment based off of individual genomes, it only made sense that WHO restructured to make sure that tumors started being classified that way as well. Eyas M Hattlab, MD, from the Indiana University School of Medicine created a comprehensive slide deck that explains the new diagnostic mapping.

Precision Medicine and the Brain Tumor Community

Why should the brain tumor community care about precision medicine? Because repeatedly slicing our heads open to remove brain tissue and implementing a guess and check method with chemotherapy isn’t good enough. And frankly, we’re sick of it.

The typical treatment decision process for a patient may consist of an initial diagnosis, a second or third opinion if time allows, and then starting a standardized treatment plan. In most cases, that standardized treatment plan consists on a resection (craniotomy) or a biopsy to determine the tumor type. After that frontline information has been gathered, further treatment can commence. Depending on the grade of the tumor and its unique genetic markers, a patient may have radiation therapy for six weeks combined with Temozolomide (Temodar) chemotherapy pills 6-12 weeks, or in some cases, up to a few years, as the new standard of care for gliomas is Temozolomide used together with radiation. Targeted therapies such as Herceptin (Trastuzumab) or Erlotinib (Tarceva) may also be options to explore. If a patient does not respond well to the therapy, or if their tumor begins growing again post treatment, then second-line drugs like Avastin may be implemented. The Optune device is also a treatment option that may be authorized for patients with recurrent Glioblastoma multiforme (GBM).

It is also important to note that patients may have a second, or a third, or more surgeries to remove more tumor if it is possible to do so without impairing quality live and function. In fact, I have a friend who has had ten brain surgeries as of this summer and will obtain her PhD in Spring 2017. Even with these different treatment options and our brain’s ability to bounce back, our brain does not need to go through ten different surgeries if it does not have to. If there is a way to take one chemotherapy pill instead of testing out four different kinds until the last one works, then we deserve that. For every friend of mine who has had a positive outcome from treatment, there has been at least one who did not respond well to treatment and died. What if each of them had been prescribed chemotherapy that targeted their unique tumor cells instead of the standard treatment, and they lived? They would have gone on to be teachers, engineers, doctors, lawyers, and patient advocates, and maybe even the next President of the United States. Precision medicine has the power to change the state of medicine, but it also has the power to change just about everything else imaginable, including education and politics. Precision medicine research and results do not appear overnight, though.

It takes years of research and anywhere from tens to tens of thousands or more of research participants in order to find significant results. A precision medicine study that is taking place in the brain tumor community right now is the Gliogene study. Gliogene is an international consortium of familial brain tumor researchers in the United States, the United Kingdom, Sweden, Denmark and Israel. With Gliogene, we may be able learn more about possible genes related to this disease, and then identify a genetic link among family members of brain tumor patients. Identifying a genetic link would provide us with information that could potentially lead to improved treatment, as well as preventative strategies. What I like most about Gliogene is that it is a collaborative and international effort, giving us a larger sample size and more eyes to look at the data collected. It is also the largest study ever to be conducted on familial gliomas, or primary brain tumors, and researchers aim to screen approximately 15,000 individuals worldwide during the five-year study. Note that you are eligible to participate in the Gliogene study if you have two or more family members with a glioma brain tumor. This not the only clinical trial to participate in, though, not is it the only type of clinical that exists.

 

GBM AGILE is being developed through the National Biomarker Development Alliance, which is a non-profit organization created as a part of Arizona State University’s Research Collaboratory. The team behind this project is comprised of over 130 neurosurgeons, neuro-oncologists, pathologists, imagers, and basic and clinical neuroscientists from around the globe. Even more impressive, though, is that everyone involved in GBM AGILE’s team is volunteering their time and resources in order to crowd source their knowledge. There’s something different about this clinical trial than most, though. Traditional clinical trials test one drug on patients, but this adaptive trial will use a continuous learning system to introduce multiple drugs throughout the course of the trial. This trial is GBM specific, and will speed up the identification of effective drugs for GBM that our community so needs. This continuous learning model system will also allow researchers to save time by not having to write and rewrite protocols, which often slows down our community’s trials. While the protocol is still being finalized, the trial is expected to start enrolling patients in Australia starting late 2016. Until then, there are a slew of other clinical trials to explore, too.

More than 1,700 studies for people with gliomas are listed on www.clinicaltrials.gov. The studies are out there, but we as patients cannot participate in trials that we do not know exist. If given the chance to change the future of medicine, wouldn’t you want to help? Now you can. The next survival breakthrough could lie in your family’s genome sequence. Give researchers access to it so that they can help give future brain tumor patients access to a future. Participate in a clinical trial so that the next person who gets diagnosed with a brain tumor only needs one type of chemotherapy, not three. You have the power.

 

 


Charlie Blotner Precision Medicine Advocate

Charlie Blotner Precision Medicine Advocate

Charlie Blotner is a senior undergraduate student in Family & Human Development at Arizona State University. Charlie has a passion for increasing clinical trial participation, and wants to empower patients to make the most informed medical decisions for themselves possible with the most research information possible. Charlie has spoken at Stanford Medicine X and believes in the power of patient storytelling. As a brain tumor survivor and patient advocate, Charlie co-moderates Brain Tumor Social Media (#BTSM) Chats on Twitter. More than anything, Charlie wants to be able to contribute to the work that helps patients to be able to breathe easier.