Please give a brief overview of 2bPrecise. 2bPrecise is a precision medicine data delivery platform, bringing genomic data to doctors across the entire healthcare enterprise. We have developed a cloud-based informatics platform that consumes genomic/genetic data (from lab tests) and clinical information (from the electronic health record (EHR)), combining them into a comprehensive patient record. Because 2bPrecise functions as a vendor-agnostic, enterprise-spanning informatics solution, any member of the care team can act upon these integrated insights. Often, the simple recognition that clinical-genomic information is now available within their workflow significantly impacts a provider’s day-to-day medical decision making.
You’re CMO and co-founder of 2bPrecise, a practicing physician, and an adjunct professor at the University of Pittsburgh—what’s a typical day like for you? There are no clear boundaries between my various roles, as I multitask most of my day. I am grateful that technology enables me to remain in touch with my patients at all times. Between an EHR and (selected) patients’ access to my cell phone, I am continually connected to clinical care. In addition, I see patients in my practice two full days a week and take turns being on-call, as well as rounding in the hospital one full weekend per month. Much of the rest of my time is spent traveling—connecting with clients, speaking and educating about precision medicine, and assisting with sales activities. I work very closely with our team on product development either in our Pittsburgh office or during my frequent visits to Israel.
Do you have any thoughts on how the laboratory can improve interoperability? Probably the most significant area of opportunity is for labs to encourage their clients to receive results as discrete data because it enables them to utilize the information in multiple ways over time. As a corollary, they can help clinicians understand the value of being able to interrogate genomic results now and well into the future, so they can leverage the data as science advances and new therapies are discovered. Of course, this includes educating clients on both the benefits and limitations of a “test once/interrogate often” approach. Additionally, labs play an important role to ensure clinicians fully understand the difference between a “sign off” of raw data vs. interpreted results. Finally, I would advise laboratory leaders to promote standards beyond CLIA on genetic data integrity/quality.
How is precision medicine redefining the standard of care? Equipping providers with genomic data during their clinical decision-making process greatly impacts preventative, diagnostic, and therapeutic value. Genomics can help clinicians identify patients at high risk for specific disease (e.g., various cancers, forms of dementia) so they can determine how to best engage their patients—recommended life style changes, accelerated diagnostic screening, prophylactic therapies, early intervention, etc. Likewise, genomic data enables providers to arrive at a definitive diagnosis more quickly and select therapies most likely to deliver desired outcomes sooner. Consider how pharmacogenomic testing helps patients suffering from depression. In the past, providers were forced to adopt a trial-and-error approach—trying one medication after another until the patient began to respond. Now, providers can get to the third or fourth line of treatment first.
Do you have any thoughts you can share about consumer genetic testing? For the most part, I believe direct-to-consumer (DTC) testing has generated a lot of positive energy. Our industry has long said it wants patients more involved in their healthcare and consumer testing has certainly been a driver in this area. In my own practice, I have found patients are very aware of the power of genomics and they often come to me with questions, which I welcome. However, we need to make sure patients truly understand the limitations of these tests.
The FDA recently approved a DTC test for BRCA 1 and 2 genes, which may indicate risk for breast, ovarian, or prostate cancer. But they represent only a handful of the thousands of genetic variations associated with these cancers. If a patient doesn’t understand this, they may view the BRCA 1 or 2 test as a definitive “yes, you are at risk” or “no, you are not at risk” answer—and may become defeatist (“nothing I can do…”) or falsely confident to the point of neglecting important self-care (like breast exams) or screenings (like mammograms). Patients also need to be made aware there are great variations in the quality of consumer genomic tests—and in the depth of interpretation that accompanies them. In short, we must make sure we thoroughly educate patients, so they better understand what conclusions can and cannot be drawn from individual tests. At the same time, clinicians need to more quickly understand the impact genomic information can have on care, so they can provide proper input and guidance.
You mentioned to me at HIMSS19 in Orlando that your mother was a medical laboratory technologist; did this influence your decision to enter the healthcare industry? The short answer is, absolutely! My mother worked in a small hospital lab in Rome, New York, both as a lab tech and the primary phlebotomist. I spent a lot of time as a child visiting her and this introduction prompted me to get a job in the lab later on. I genuinely loved the sights, sounds, and smells of the lab, and became fascinated in clinical testing, microbiology, and histology. I am certain these experiences also sparked my interest in emerging medical technology and led me to do research in early nuclear magnetic resonance when I went to college. Mom’s work also motivated me to become a volunteer at the hospital, which exposed me to real patients and their relationship to diagnostic labs.
