Q&A: Rare oncology--which types qualify?

Orphan diseases are seeing increased attention in recent years due to the appeal of markets with low competition, but rare oncology types are another beast entirely

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October was National Breast Cancer Awareness month, and if you’ve been keeping up with our website (and our other news vehicles), you might have noticed an increase in the number of cancer-focused articles last month. And we’re keeping that going a little longer with a conversation with someone on the front lines against cancer, as it were.
As the oncology field advances, those working in this sector are learning to classify cancer with greater and greater specificity, going from broad types based on where a cancer is located—lung, breast, skin or other—to more tightly focused classifications based on tumors’ mutations and genetic profiles. In this Q&A, Dr. Julianne Dunphy, director of medical strategy at Cambridge BioMarketing, takes some time to give us a look at the field of rare oncology, including what cancers fall under that heading and how scientists are working to understand more about them.
DDNews: What is Cambridge BioMarketing’s experience in the field of rare oncology?
Julianne Dunphy: Rare oncology is an ever-growing subgroup of the oncology space, in which healthcare professionals and patients face some of the common challenges associated with rare disease, and unique challenges, as well. Cambridge BioMarketing recognized these challenges over a decade ago and began specializing in rare diseases and the particular unmet needs associated with them throughout the healthcare system, including the unique experiences of patients and their caregivers. Our early work in rare clonal blood disorders ultimately allowed us to establish relationships with specialist audiences that also treat a multitude of hematologic malignancies. Stemming from these experiences, we cultivated a particular interest in and dedication to rare oncology and are experienced in both rare solid tumors and hematologic malignancies. We continue to strengthen our expertise in the rare oncology space. Moreover, our employees have many decades of cumulative experience in oncology, both rare and in more common tumor types, and a passion for life-changing treatments for highly specialized populations.
DDNews: What kinds of cancer types fall into the category of rare oncology?
Dunphy: Rare diseases are typically characterized by a patient population of less than 200,000 (United States) or one in 2,000 (Europe). Based on these parameters, most cancers would actually be considered rare. However, in oncology, “rare” is generally held to a different standard; based on epidemiological study, RARECARE specifies an incidence of a rare cancer as less than six per 100,000. Just a few examples of the hundreds of rare cancers include soft tissue sarcomas and bone cancers, malignant mesothelioma and thymoma, as well as cancers of the small intestine, gallbladder, nasopharynx and oral cavity.
Despite their unlikely occurrence, rare cancers can arise from a diversity of tissues and cell types throughout the body. Furthermore, we expect that the number and types of rare cancers will increase as we continue to break down and understand the numerous subtypes of more common cancers. This is taking place as tumors are increasingly characterized by genetic background or molecular signature.
DDNews: From your perspective, why is the genetic makeup of a tumor just as or more important than where it’s located in the body?
Dunphy: The behavior of cancer cells and tumors stems from a variety of factors, including: genetic background, anatomical site, local microenvironment, interaction with the immune system and additional variables that are still being identified and investigated. Consideration of these numerous factors facilitates a growing understanding of tumor growth, survival and metastasis, and can guide the development of more rationally designed, tailored treatment approaches. That said, ultimately cancers arise and are perpetuated because of malfunctions that take place on a molecular and genetic level.
Thanks to scientific advancements, our study of cancer is trending towards a more detailed and nuanced knowledge of tumors and strategies for developing novel treatment approaches. Additionally, a personalized approach based on a particular molecular signature vs. tumor location means that one therapy may have applications in multiple tumor types that share that signature. Ultimately, however, every tumor is unique and may require a unique treatment strategy.
DDNews: What are the differences—genetically or otherwise—between a tumor that’s a rare cancer and a rare disease?
Dunphy: Rare cancer and rare disease share a number of notable similarities, but also some important differences. In both cases, disease awareness is low, typically leading to prolonged time to diagnosis. Treatment for these frequently life-threatening conditions requires highly specific expertise, often only found at expert centers. Furthermore, while those affected by a rare condition, including rare cancers, often feel isolated and frustrated, there are often strong networks within the patient and caregiver communities, which provide strength, support and advocacy.
On the other hand, while identifying experts in rare cancers is a challenge, much as it is in rare disease in general, cancers are often treated in academic oncology centers in which team and care infrastructure for cancer is already in place. This is less likely to be the case in rare disease in general, which is an extremely heterogeneous group of conditions. In fact, that heterogeneity amplifies the challenges for rare diseases, where similarities and cross-applicability of new advances are rare. In contrast, there is a greater likelihood that rare cancers may benefit from advances made in more common cancers, particularly when they share dysregulated pathways or molecular signatures. In fact, the potential existence of molecular culprits shared among multiple tumor types means that a particular targeted therapeutic approach may apply across those particular cancers. Importantly, this can help obviate one of the other major challenges rare diseases face, namely, recruiting enough patients from a rare population to enable a robust clinical trial of a new treatment.
Julianne Dunphy, Ph.D., has served as Cambridge BioMarketing’s director of medical strategy since January 2016. Prior to that, she has served as a medical director of several organizations, including The Scienomics Group, Prime Medica and Biolumina.

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