The promise of precision medicine is powerful, but one of the leading voices in the field cautioned that fulfilling that promise still requires more years of hard work to deliver widespread successful therapeutic outcomes.
David Goldstein, PhD, Professor and Director, Institute for Genomic Medicine, Department of Genetics and Development, Department of Medicine, Columbia University Medical Center, defines precision medicine as identifying the underlying disease cause in an individual patient, then targeting treatment to that precise cause in each individual. Dr. Goldstein was the opening presenter at Friday morning’s “Researching and Applying Precision Medicine in Hepatology” Clinical Research Workshop.
Dr. Goldstein said that identifying genes, genomes and mutations has become much more reliable in determining a clear-cut genetic diagnosis, but that hasn’t translated much into therapeutic success. The reality is that of the 4,000 or more Mendelian disease genes, less than 1% today have targeted treatments.
“If precision medicine really is going to change the way we practice medicine, we’re going to have to make sure we don’t have so many therapeutic dead ends,” he said. “That’s one of the things we’ve been really working hard on at Columbia, trying to figure out how to open up that road so we can actually identify therapies.”
That begins with developing appropriate model systems that start with mutations that cause disease in individual patients. Good models can be used to identify promising treatments for patients.
The diagnostic genome studies taking place at Columbia involve Dr. Goldstein’s department working with genetic counselors to design studies and enroll patients. When the genetic investigators think they have found the cause of the disease, that information is given to the patients with the support of the genetic counseling teams. One of those ongoing studies involves using this method to examine a broad spectrum of liver diseases with the goal of developing definitive diagnoses, discovering novel genes and identifying new disorders.
But an older study involving liver disease — trying to understand how some patients responded to specific HCV treatments based on geographic ancestry — helped prove an important point, Dr. Goldstein said. Many genomicists complain that there are many genomic findings that would be useful that go unused because clinicians don’t understand genomics. However, clinicians used the information from this HCV study to tailor treatments to their patients by avoiding treatments shown ineffective based on the patient ancestry.
“Interestingly, when we came out with this (HCV) finding, we didn’t make any systematic efforts for people to start using it. People just started using it and they understood how to use it immediately,” he said. “When genomics is actually clinically relevant and useful, the clinical community will make use of it. I would actually suggest to some of my geneticist colleagues that the reason genomics findings that we have that are not used clinically often is because they’re not that useful.”