What might personalized medicine really mean for patients? Here’s an example that Beth Baber, PhD, a cancer researcher and mother of three, is working on that she intends will soon be a reality. Several years ago, Baber’s own 15-month-old son was diagnosed with high-risk neuroblastoma—a malignant tumor that originates from the spine. After seven rounds of intensive chemotherapy, surgery, and retinoic acid therapy, Nicholas remains in remission. However, the experience opened Baber’s eyes to the problems inherent in the one-size-fits-all treatment approach that is the current standard of care for childhood cancer.
Baber is changing things through an organization she cofounded, The Nicholas Conor Institute (TNCI). The institute, a not-for-profit 501(c)(3) enterprise, has formed TACTiC™, a collaboration of personalized-medicine diagnostics and therapy research organizations. Operating as the translation and business management hub, TNCI receives its funds from foundations and grants and disseminates the monies to the TACTiC™ partners for research and development of pediatric cancer diagnostic kits and new treatments, all of them focused on stratified populations and personalized cures. Baber’s regimented, business-oriented infrastructure maintains careful control over initiatives to carry new discoveries forward to targeted life sciences companies. With TNCI leading the way with venture philanthropy funding, the companies are relieved from early-stage risks and costs. Upon commercialization, license fees are returned to TNCI for sharing with the TACTiC™ partnership and reinvestment into further research.
Today, there is no defined protocol for diagnosing childhood cancer, so pathologists vary in levels of rigor in the testing they undertake. In cases in which they are less aggressive, there’s greater likelihood of misdiagnoses. When it comes to treatment, children with rare cancers such as neuroblastoma are all given the same chemotherapy drugs; there is no personalization of treatment approaches. Furthermore, because relatively few children get cancer (childhood cancer accounts for less than 1 percent of all cancer), few therapies are tailored to them. Children often are treated with much higher doses of drugs originally designed for adults. Such drugs are extremely toxic and therefore harsh on young, growing bodies.
The result? Treatment is usually performed through trial and error, leading to unnecessary pain and suffering because the treatment for each form of cancer is so different. Additionally, the majority of children who survive after chemotherapy and/or radiation therapy develop a plethora of long-term side effects, such as infertility, hearing loss, abnormal bone growth, secondary cancers, and a marked decrease in the functionings of the heart, lungs, and kidneys.
In the next decade, The Nicholas Conor Institute hopes to see cancer therapy customization for each and every child. Initially, rather than requiring the costly development of new treatments, TNCI is working with biotechnology firms and other organizations to develop companion diagnostics that will provide better guidance for the use of existing chemotherapy drugs, including those that have been shelved because they were thought to be ineffective. Companion diagnostics could help identify exactly who would benefit from a particular therapy, so that drugs could be pulled off the shelf and commercialized for children.
TNCI is also collaborating with diagnostics maker AltheaDX to develop a uniform approach to making the cancer diagnosis— by way of a single, definitive test that could be performed from a single biopsy. A definitive diagnosis would portend the optimal chance that a child would be immediately placed on the right treatment and therefore have the best chance of being cured.
Already there’s promise: AltheaDX is currently producing the first childhood cancer diagnostic panel for small round blue cell tumors—a category of tumors that look much the same under a microscope but that are produced by a variety of cancers, each requiring a different treatment. The diagnostic can differentiate the types of small round blue cell tumors with 99 percent accuracy, so that the appropriate treatment can be prescribed.
Even though it is outside direct health system influence, the drug development and approval process is, arguably, one of the most formidable barriers to personalized medicine. Once the era arrives when personalized medicine reigns, the current approval process for drug development and commercialization will become outdated. The current structure of the US Food and Drug Administration is poorly equipped to handle all of the many individual variations associated with personalized medicine.
Diagnostics, for example, play a crucial role in advancing personalized medicine because they can help doctors target specific therapies for specific kinds of patients in whom these therapies are known to work. But approval of diagnostic tests and approval of drugs are handled separately, reviewed in two entirely different centers and under very different rules. The regulatory pathway for the commercialization of new diagnostics is unclear due to diversity in approval pathways and the ongoing expectation of regulatory reform.
Many health leaders are talking about developing a common regulatory regime for all healthcare products and services rather than separate regimes for pharmaceuticals, medical devices, diagnostics, and the like.