At Johns Hopkins Medicine, our patients are at the center of everything we do. Starting with William Osler (1849–1919), who believed medicine should begin and end with careful observation of the patient, Johns Hopkins pioneered the idea of tailoring treatment to the individual.
Human diseases are marked by an identifiable group of symptoms arising from certain abnormalities in biological pathways, but patients with similar diseases are not identical. For generations, our physicians and scientists have been working to understand this variability to customize treatment for every patient.
Fast forward to 2016. One of the most exciting stories in medicine is the tremendous headway in personalized health care, also known as precision medicine. This progress is fueled by an information revolution, in which the speed and power of data analysis are rapidly increasing, as well as a measurement revolution, in which many different parameters can be determined from ever-smaller samples and specimens simultaneously.
Today, more than ever, medicine is poised to unleash the potential of information science, or informatics, to improve patients’ lives. At Johns Hopkins, many of our scientists have taken the lead in this arena. Our precision medicine initiative, known as Hopkins inHealth, is a collaboration among the university, the health system and the Applied Physics Laboratory. Harnessing big data to improve cancer screenings, cystic fibrosis treatment, heart care decisions, autoimmune disease management, and diagnosis and treatment of age-related diseases, Hopkins inHealth is focused on creating tools that improve medical decision-making to provide the right care to the right person.
Of course, the tools of personalized medicine are built on a foundation of past discoveries. In cancer genetics, many of those insights were achieved right here by people such as Bert Vogelstein, Ken Kinzler and Victor Velculescu, whose groundbreaking research established the genetic basis of many cancers.
One of the headline stories in precision medicine over the past decade has been targeted cancer therapies, which zero in on cancer cells that have specific markers without harming healthy cells. These drugs have represented a major step forward, but tumors find a way to become resistant to almost any drug. To address that problem, our Kimmel Cancer Center scientists are pioneering the use of liquid biopsies. By spotting tumor DNA in the bloodstream, these biopsies can detect new cancers or recurrences early, even before symptoms appear, and define how the cancer may be changing in response to therapy. A liquid biopsy can help detect any resistance that is forming and allow physicians to adapt treatment.
In cystic fibrosis (CF), as in cancer, we are also at the threshold of being able to customize treatment for each patient. CF is caused by a mutation in the CFTR gene, which regulates how fluids and salts move across a cell membrane. Two of our faculty members, Garry Cutting and Patrick Sosnay, have spearheaded a systematic review of every CF mutation to identify which ones lead to the disease. Now researchers are developing and testing drugs for CF that target certain classes of mutation. Mike Boyle of our adult CF center is the principal investigator of such a study.
These are just a few examples among many.
Coupling our culture of innovation with the powerful tools of the era, there is breathtaking potential to revolutionize how we diagnose and treat illness. The approaches will vary, but the underlying doctrine of patient-centeredness will continue to guide everything we do.