The accelerating pace of scientific breakthroughs in medical science, bioinformatics, and digital healthcare captivates the world’s imagination. Advances that took years to achieve can be now be realized in days or mere hours.
President John Kennedy’s moonshot mission in the 1960s that landed a man on the moon has become an inspiration for conquering cancer, one of the leading causes of death worldwide, with more than 14 million new cases and 8 million deaths each year. The urgent challenge for universal cancer care is that many patients are not able to access or afford adequate treatments.
Joe Biden’s cancer moonshot to personalize cancer therapies and Barack Obama’s precision medicine proposals have initiated the mobilization of scientists, physicians, and healthcare stakeholders. While precision medicine focuses on assessing and using genomic and other medical data to better characterize and manage diseases, personalized medicine aims to optimize treatments at the individual patient level. Both initiatives derive from complementary technological and scientific achievements that advance medicine, but lack emphasis on the everyday struggles of cancer patients.
Achieving universal cancer care requires precision and personalized medicine, as well as integrated care, a multi-dimensional approach to ensure patients in need are aware of and have access to life-saving treatments.
We are more than 10 years into a genomics revolution driven by next-generation gene sequencing capabilities that have transformed our approach to cancer and inherited diseases. Publishing the first human genome sequence in 2003 took the Human Genome Project 13 years and 3 billion dollars to achieve. Soon it will take hours and less than 100 dollars to obtain the same data.
Next-generation gene sequencing is especially relevant for cancer genomics, the study of gene defects that turn healthy, normal cells cancerous. These defects can be found in germline genes, those inherited and present in all cells, or in somatic genes, those only expressed in certain cell types. Both germline and somatic defects present in tumor cells and their identification is essential to profiling, monitoring, and identifying therapeutic targets.
Cancer is not just one disease. It’s a host of diseases that comprise many different tumor types and genetic subtypes, both of which are driven by individual genetics, lifestyle, and dynamic cellular processes. Accurate, high-speed, and low-cost ways of identifying genomic data is revolutionizing cancer treatment. Besides the standard sources of tumor material (biopsies and surgical specimens), recent technological advances empower us to obtain genomic data from debris in blood released by tumor cells, so-called “liquid biopsies.”
The explosion of cancer genomic data is encouraging academic, clinical centers and the biopharma industry to collaborate and consolidate information. Massive reference libraries of genomic data and associated clinical information provide an invaluable database to analyze, interpret, and provide guidance for the treatment of individual patients.
However, some institutions are not ready or willing to share data and information. Technological hurdles, such as incompatibility of databases, impair the free flow of genomic and clinical data, even between elite cancer centers. Although many clinics are collecting doctors’ notes and pathology reports electronically, most of this information is unstructured and can’t be stored in conventional databases.
The cancer moonshot and precision medicine initiatives address the standardization of data collection and how data sets are stored, which will potentially make them much more accessible. This is not just about data gathering, but about creating a 21st century infrastructure that enables researchers and physicians to interoperate quickly and seamlessly. The ability to search, analyze, and immediately act on genomic and clinical data will facilitate matching patients with existing therapies or cutting-edge clinical trials.
The original, lofty moonshot was achieved through unprecedented collaboration between US government agencies and scientific teams. Referring to the initial steps of the cancer moonshot, Joe Biden explained, “No one anticipated that we would have astrophysicists working with oncologists working with biotechnicians working with immunologists and virologists etc,”
Collaboration is essential because a true personalized approach to prevent, diagnose, and treat cancer goes beyond genomics. While the relevance of nutrition and lifestyle for cancer is well-established, the immune system and the microbiome have recently emerged as game-changers for cancer management.
Immuno-oncology is transforming care for some tumor types, producing dramatically more sustained survival rates and lower toxicity compared with chemotherapy in some patients. Immunotherapy either potentiates the anti-cancer immune response, such as through genetically engineered immune cells and personalized cancer vaccines, or releases the “brakes” that tumor cells use to escape immune recognition and destruction. The immune system is also influenced by the microbiome, trillions of microorganisms that colonize our body (such as the gut flora) that can prime immune cells to identify and interact with tumor cells. Therefore, personalized medicine for cancer combines an individualized guidance to systemic treatments, surgery, and radiotherapy with interventions in nutrition, lifestyle, and other cancer-promoting drivers.
Integrated care: technology, patients and caregivers
Precision and personalized medicine, driven by big data analytics and artificial intelligence, cannot completely replace human interactions, especially the relationship between patients and caregivers. This relationship can be marked by confusion, anxiety, and helplessness, all a result of the overwhelming and complex medical information that must be understood, among other factors. Physicians spend an increasing amount of time on continual education and administrative paperwork, decreasing the amount and quality of time they can spend with their patients.
Genomic and clinical data should be easily accessible to patients and caregivers. Patients should have the right to get medical advice free of medical jargon to make informed decisions. They should have the right to receive coordinated care from different centers or physicians, all sharing the same data. Current U.S. privacy laws already protect confidentiality. However, accessing patients’ clinical information costs time and money, and is filled with bureaucratic hurdles.
To achieve truly personalized care, our healthcare system should integrate technology with the human touch. Patients should understand the basics of precision and personalized medicine and feel empowered to make decisions regarding how their data will be used for themselves and to save the lives of others. Only through joining forces and ensuring patient-centric healthcare can we become masters of the cancer universe.
Oscar Segurado, MD, PhD, Director of Medic Affairs Consulting LLC, has extensive global experience covering oncology, immunology and molecular biology in academia and industry settings.
The views of contributors are their own and are not the views of The Hill.