Global Alliance for Genomics and Health (GA4GH) estimates that greater than 60 million patients will have their genome sequenced in some healthcare related scenario by 2025.
Million Veteran Program is one such example where a research database will be assembled to anonymously study conditions such as diabetes and cancer, as well as military-related illnesses, like post-traumatic stress disorder (PTSD). As of July 2019, more than 770,000 veterans have contributed blood samples and health data. Just think about the ways this precision medicine initiative changes how we could approach clinical care! How did this revolutionary change in medicine get started?
Evolution from peas to Precision Medicine
I don’t believe that Johann Gregor Mendel would have any idea that his work with pea plants could have evolved into a vast area of medicine that had the potential to make such a revolutionary impact on healthcare. It all started in 1854, when Mendel began his work to look at the conveyance of hereditary traits. “Why peas?”, you may ask. Peas have numerous distinct varieties, and generations that could be quickly and easily produced. Of course as with any new theory, Mendel’s work met with skepticism and controversy and it was not until many years after his death that he was crowned with the title “ the father of modern genetics.”
Precision Medicine with Natural Language Processing (NLP)
NLP is already impacting healthcare. University of Iowa has been using genomic techniques to support their treatment selection in the area of diagnosing and preventing disease for the past few years. Under this area, one technique that is utilized is chromosomal microarray (CMA) testing, a genomic scale clinical test that detects sub-microscopic deletions and duplications of genomic material in the DNA of patients suspected of having a genetic disorder. Unfortunately, using current standard of care practices, up to 40% of patients will still receive a test result of “variant of unclear clinical significance” based on Copy Number Variants (CNVs). Results with this level of uncertainty can be very unsettling for families and necessitates further clinical testing to clarify a genetic diagnosis. A task that once could be deemed as a very time consuming, manual process.
Using standard methodology, a healthcare professional would need to manually obtain necessary phenotypic details about the patient from the EHR in order to interpret VUS (variants of uncertain significance) lesions. An accomplished certified cytogenetic technologist would require 34 hours for 100 patients, compared to 10 minutes using Linguamatics NLP.
Precision Medicine is just getting started
Precision medicine is already making an impact in many areas of healthcare. AI/NLP can be utilized in many such areas to further decrease manual work, from diagnosis and prevention to treatment. Populating information in registries is one such example for both population health and cancer treatment initiatives. We are learning to look at the 360 degree view of the patient, to understand that a disease does not define our outcome. Our genetics and our habits significantly impact the progress we make. Precision medicine is here and our future depends on it.
Don’t you think Mendel would be amazed and proud?