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The Importance of Detecting NTRK Gene Fusions

August 2, 2023
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In the past, patients diagnosed with rare cancer types often faced a bleak prognosis due to limited treatment options. Today, the story is different, as advances in precision medicine and the development of new, targeted therapies continue to permeate the oncology space. For example, biomarker testing for rare cancer types, such as neurotrophic tyrosine receptor kinase (NTRK) gene fusion-positive cancers, can help identify treatment options and potentially offer new hope for patients diagnosed with rare diseases. However, access to biomarker testing and access to expert interpretation of results and treatment recommendations has presented challenges in the community care setting.

In 2022, the Association of Community Cancer Centers (ACCC) set out to explore ways to address barriers to optimal care for patients with rare diseases, such as NTRK gene fusion-positive cancers. This initiative included a series of focus groups to identify practical solutions for integrating NTRK gene fusion testing into practice, conduct an analysis of the current NTRK testing landscape and discover ways to optimize comprehensive biomarker testing, with a feature article appearing in Vol. 38, No. 4 of the ACCC bi-monthly journal, Oncology Issues.

Now, in a 3-part podcast series on CANCER BUZZ, developed in connection with the education program Emerging Biomarkers: Innovative Therapies for NTRK Gene Fusion Testing, and made possible with support from Bayer, care teams can learn about new strategies to overcome barriers and improve care for patients with NTRK gene-fusion positive cancers.

Biomarker Testing is Key

Biomarker testing can play an integral role in the diagnosis and treatment of these rare cancers. With highly targeted and effective treatments now available that can significantly impact outcomes, identifying patients who may be eligible for these new therapies is essential. The way to do this is through comprehensive biomarker testing. In episode 115, CANCER BUZZ spoke with Eric Konnick, MD, MS, associate professor of Laboratory Medicine and Pathology and associate director of Genetics and Solid Tumor Laboratory at the University of Washington Medical Center Fred Hutch Cancer Center, about the importance of testing for NTRK gene fusions.

“All levels of the care team need to be thinking about this…if they don’t see a characteristic mutation, they need to be thinking about NTRK as one potential option,” Dr Konnick said. “Only a small subset of cancers have known oncogene drivers that are treatable, so there is a huge variety of different malignancies that we encounter across the spectrum of patients.” Therefore, he recommends that care teams consider these key questions: “Is this an opportunity for this patient? Can we provide tissue for testing? If we are getting a biopsy at disease progression, is this a time that we can assess for these alterations in the genome?”

Raising Awareness

Beyond care teams, it is also critical for patients to become advocates for their own care. Raising awareness of the importance of biomarker testing—and how it can guide treatment decisions—as well as empowering patients to ask for testing can be a game changer. This is the message Susan Spinosa, president and patient founder of NTRKers, a 501(c)(3) nonprofit organization created to support patients with NTRK fusion-positive cancer, shared in the second episode of this CANCER BUZZ podcast series (episode 118).

Following her own journey with NTRK fusion-positive cancer, Spinosa created NTRKers, and a Facebook patient advocacy group, to unite, support, and educate patients diagnosed with this rare disease. The goal was to ensure patients understand the impact biomarker testing can have on their disease outcome—through access to clinical trials, new therapy options, and the latest developments in research.

Another patient-founded nonprofit organization based in Cambridge, Massachusetts, TargetCancer Foundation, is garnering national attention for developing a unique approach for supporting patients with rare cancers by providing access to biomarker testing for patients in community care settings.

TargetCancer Foundation’s, fully remote TRACK (Target Rare Cancer Knowledge) clinical trial enables patients with NTRK fusion-positive cancer and other rare diseases to enroll online and gain access to a coordination team that facilitates all phases of biomarker testing. This includes the collection of medical records, a mobile phlebotomist to draw blood for testing, coordination of tissue transport from local hospitals and clinics to reference labs for testing, and a virtual molecular tumor board to review cases and offer treatment recommendations for patients.

As Jim Palma, executive director of TargetCancer Foundation explains, “The TRACK clinical trial was really developed directly in response to the challenges that we were hearing about from patients every day,” Palma said. “The clinical trial was designed to address and alleviate those challenges and lead patients with rare cancers to appropriate treatments, especially in rare cancers where patients might not have any real treatment options.” Hear more about this exciting clinical trial on CANCER BUZZ episode 119.

Hope for the Future

As care teams seek new ways to engage and support patients with rare cancers, the path forward is promising. Through increased utilization of guideline-concordant comprehensive biomarker testing for rare diseases, raising patient awareness about biomarker testing, improvements in communication across the multidisciplinary cancer care team as well as across biomarker testing workflows can lead to real progress and renewed hope for patients.

The ACCC program Emerging Biomarkers: Innovative Therapies for NTRK Gene Fusion Testing is supported by Bayer and is in partnership with NTRKers. 

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