When describing his latest effort to make breakthroughs for children with cancer, Adam Resnick, PhD, places it in the context of history. In their origins, science and medicine were once entirely separate disciplines, he notes. Science, an erudite pursuit to unlock the universal truths of the natural world, rarely concerned itself with concerns of human flesh. Medicine, meanwhile, was more personal — a direct relationship between a patient and a healing hand.
“These different approaches are coming together in new and amazing ways,” Dr. Resnick said during an event he hosted in September with colleagues from the Center for Data-Driven Discovery in Biomedicine (D3b) at Children’s Hospital of Philadelphia.
Henrietta Lacks and How Patients Now Help Medicine and Science Converge
The guest of honor at the September event was David Lacks, a man whose family’s recent history helps to illustrate just how recent and how essential — for patients and for scientific knowledge — the modern convergence of medicine and science turns out to be.
David’s grandmother, Henrietta Lacks, a poor African-American woman who grew up on a tobacco farm and raised her family in Baltimore, died of cervical cancer in the early 1950s. But her cancer cells lived on; a tissue sample, taken by her doctor without her knowledge and handed off to a scientist colleague, had become the first human cells to grow and reproduce perpetually in the lab. The cells, called HeLa, helped power breakthroughs including vaccines and cancer therapies, and they remain an essential tool in biomedical science.
In part because the cultures of science and medicine decades ago regarded scientific pursuits using cells as discrete and disconnected from the human patient in the hospital (and exacerbated by other racial and sociocultural dynamics), the Lacks family did not learn of their late matriarch’s contributions to science until decades later. They struggled to gain any insight into how the cells were being used and what that meant. After halting progress and the 2010 publication of a book about Henrietta, the Lacks family now has an active role in deciding how genomic data from HeLa cells can be used in research. Now that they are engaged as partners with scientists and have the opportunity to make choices to protect their genetic privacy on their own terms, they want to use Henrietta’s legacy to drive scientific progress.
“It’s important,” David Lacks said during his visit to CHOP. “We all get sick, we’re all going to get old, we all might suffer from something. Why stand in the way? Why not try to be a catalyst to help and change, as opposed to blocking it?”
This new level of family engagement is emblematic of the moment in history when it occurred. This decade marks an inflection point in history when the medical realm — the family of a single patient —can link directly to the process of scientific discovery by being an active partner in it. Dr. Resnick and his team at CHOP’s D3b center believe that it is families and patients who can actually lead this charge. When facing a serious disease such as childhood cancer, and especially highly lethal cancers such as brain tumors, patients and their families commit deeply to hopes for both medicine and science — medicine to treat the patient’s own disease successfully, and science to spare future families a similar struggle. Empowering patients and families to engage and achieve maximum success with the scientific aim is where the heart of his team’s newest initiative comes to life.
“Data and patients are the organizing principle of how we do what we do,” said Dr. Resnick, who is the director of translational research in division of Neurosurgery and co-directs D3b with Phillip “Jay” Storm, MD, chief of the division of Neurosurgery at CHOP and associate professor of Neurosurgery at the Perelman School of Medicine at the University of Pennsylvania.
How a Data-Sharing Initiative Empowers Patients to Drive Discovery
The astounding glut of data created in the course of trying to solve serious diseases may itself be one of the most dominant challenges in the 21st century. Analyzing patients’ biological samples with newer sequencing tools results in huge amounts of data about genes and genomes, RNAs, and proteins. Making sense of that sequencing data requires a huge amount of computational power.
At the same time, organizational structures divide how clinical and research data can be shared and used to gain collaborative insights. Many pediatric diseases, including childhood cancers, are so rare that no one hospital or healthcare network can amass enough samples or data to gain meaningful insights into the molecular drivers of these diseases. These challenges drove the creation of multi-institutional research and clinical trial consortia such as the Children’s Brain Tumor Tissue Consortium (CBTTC), and the Pacific Pediatric Neuro-Oncology Consortium (PNOC), in both of which Dr. Resnick serves as the scientific chair. The D3b center at CHOP was established in December 2015 to build on the work of these consortia and break down silos that keep data separate and further empower the development of a data-driven ecosystem on behalf of CHOP’s diverse patient population.
One of this group’s first major initiatives is the launch of its open-access pediatric genomic data cloud, CAVATICA, announced in October 2016 as a private commitment in conjunction with the national Cancer Moonshot. CAVATICA gives clinicians and scientists secure access to big data about pediatric diseases that is empowered for secure, collaborative analysis through scalable cloud computing — meaning that the users of the service do not need to bring their own high-powered computers in order to perform complex analyses of vast quantities of data. Contributions from CBTTC and PNOC will collectively represent data from more than 20 pediatric hospitals. Researchers worldwide will be able to access this information and work together to fully empower and share novel ideas and approaches for new biological targets for precise, less toxic clinical treatments on behalf of children. CAVATICA is a joint venture of the CBTTC and PNOC created in partnership with Seven Bridges Genomics, a National Institutes of Health trusted data partner.
Patients and families who choose to partner in research and share their data with the CBTTC, PNOC, or other participating consortia and organizations, will contribute to CAVATICA, and individual patients will also be able to contribute data to CAVATICA directly. Patients will able to decide whether to remain anonymous or associate the data with their identity, and they can know that their contribution is likely to be more powerful by joining together with other patients at a scale large enough to drive powerful discoveries.
“Data can be immortalized forever, and that’s a legacy that patients and families leave behind when they choose to contribute to research in the face of serious and sometimes lethal diseases,” Dr. Resnick said. “It is our responsibility as partners in research to honor that legacy to support discovery of new treatments and new cures for childhood diseases.”