Targeted therapies – treatments that zero in on specific genes present in an individual’s cancer cells – are changing the world of oncology. This personalized approach is revolutionizing cancer care, improving drug efficacy and extending life expectancy, and it all starts with next-generation sequencing (NGS).
Next-Generation Sequencing in a Nutshell
According to John Paul Bouffard, MD, a neuropathologist at the Gerald J. Glasser Brain Tumor Center, the easiest way to understand next-generation sequencing is to think about your DNA like a library.
“All the different genes in your DNA are like individual books. Of the thousands of books – or genes – in your library, only one or two may be responsible for a cancer,” he explains.
“Next-generation sequencing is like a search engine that can comb through thousands of books on hundreds of shelves and find abnormalities in the single book – the single gene – linked to a patient’s cancer.”
These abnormalities are called gene mutations. Many people have heard of HER2-positive breast cancer, which refers to a protein found in the cells of some types of breast cancer caused by a mutation in the ERBB2 gene. Similarly, the IDH1 gene mutation is a common driver mutation associated with brain cancer, as are MGMT and BRAF mutations.
Diagnoses Driven by Genetic Science
This genetic knowledge is transforming the way brain tumors are classified and treated. Traditionally, pathologists evaluate tumors using light microscopy, which is essentially examining tumor samples under the microscope and classifying them based on how they look. Now, with NGS and other advanced technology, neuropathology is being driven by genetic science.
“When we identify a tumor as a glioblastoma, for example, we don’t stop there. We classify it as an IDH wild-type glioblastoma or an IDH-mutant glioblastoma,” Dr. Bouffard notes. “Though they are the same type of tumor when viewed through a microscope, they are genetically very different, carry different prognoses and lend themselves to different treatments and clinical trials. This is precisely why molecular diagnostics is so critical.”
Targeted Brain Tumor Treatments
Television and movies lead us to believe that any type of mutation is inherently bad. However, according to neuro-oncologist Nicholas Metrus, MD, when it comes to brain tumors, it is these mutations that open up a number of possibilities for meaningful treatments.
“A tumor’s mutations, or lack thereof, tell us more information about how they behave and which medications they may or may not respond to,” he says. “An intimate understanding of the details can make all the difference. If molecular testing reveals a mutation in a tumor and we have a known medication that targets that mutation, we can create an even more personalized and effective treatment plan.”
Investing in the Future of Cancer Care
Recognizing that molecular diagnostics like nextgeneration sequencing will continue to drive the future of cancer care, Atlantic Health System recently unveiled a best-in-class molecular laboratory at the Atlantic Consolidated Laboratory.
A major investment for Atlantic Health, the lab is home to the experts and equipment needed to perform comprehensive molecular testing in house. This enables physicians to get the genetic intelligence they need to guide advanced patient care – faster than ever before – from experts directly within the health system.
With an increasing number of clinical trials focused on tumors with specific mutations, having this genetic knowledge as quickly as possible is also key to getting patients enrolled in investigational studies that may be their most promising course of treatment.