Pathologists are positioned to be the primary interpreters of big data as genomic medicine further evolves
Pathologists and clinical laboratory managers may be surprised to learn that at least one data scientist has proclaimed pathologists the real big data rock stars of healthcare. The reason has to do with the shift in focus of genomic medicine from therapeutics and presymptomatic disease assessment to big data analytics.
In a recent posting published at Forbes.com, data scientist Jim Golden heralded the pronouncement of Harvard pathologist Mark S. Boguski, M.D., Ph.D., FACM. He declared that “The time of the $1,000 genome meme is over!”
DNA Sequencing Systems and the $1,000 Genome
Golden has designed, built, and programmed DNA sequencing devices. He apprenticed under the Human Genome program and spent 15 years working towards the $1,000 genome. “I’m a believer,” he blogged. “[That’s] why I was so intrigued [by Boguski’s remarks].
Boguski is Associate Professor of Pathology at the Center for Biomedical Informatics at Harvard Medical School and the Department of Pathology at Beth Israel Deaconess Medical Center. It was in a presentation at a healthcare conference in Boston that Boguski pronounced that it is time for the $1,000 genome to go.
Both Golden and Boguski acknowledged the benefits generated by the race to the $1,000 genome. Competition to be first to achieve this milestone motivated scientists and engineers to swiftly drive down the cost of decoding DNA. The result was a series of advances in instrumentation, chemistry, and biology.
Pathologists and Big Data Analytics
“Our notions about how genome science and technology would improve health and healthcare have changed,” Boguski wrote in an editorial published at Future Medicine. He then noted that the focus has shifted to big data analytics.
In the editorial, Boguski described the phases of development of genomic medicine as “waves.” The first wave occurred during the mid- to late-1990s. It focused on single- nucleotide polymorphisms (SNP) and therapeutics.
Medical Laboratories Have Opportunity to Perform Presymptomatic Testing
The second wave focused on presymptomatic testing for disease risk assessment and Genome Wide Association Studies (GWAS). Researchers expected this data to help manage common diseases.
The first two waves of medical genomics were conducted largely by the pharmaceutical industry, as well as with primary care and public health communities, according to Boguski. Considerable optimism accompanied each wave of medical genomics.
“Despite the earlier optimism, progress in improving human health has been modest and incremental, rather than paradigm-shifting,” noted Boguski, who wrote that,to date, only a handful of genome-derived drugs have reached the market. He further observed that products such as direct-to-consumer genomic testing have proved more educational and recreational than medical.
“Third Wave” of Genomic Medicine
It was rapid declines in the cost of next-generation DNA sequencing technologies that now has triggered the third wave of genomic medicine. Its focus is postsymptomatic genotyping for individualized and optimized disease management.
“This is where genomics is likely to bring the most direct and sustained impact on healthcare for several reasons,” stated Boguski. “Genomics technologies enable disease diagnosis of sufficient precision to drive both cost-effective [patient] management and better patient outcomes. Thus, they are an essential part of the prescription for disruptive healthcare reform.”
Boguski reiterated the case for the value of laboratory medicine. He stated the following critical—but often overlooked—points, each of which is familiar to pathologists and clinical laboratory managers:
1. Pathologist-directed, licensed clinical laboratory testing has a major effect on clinical decision-making.
2. Medical laboratory testing services account for only about 2% of healthcare expenditures in the United States.
3. Medical laboratory services strongly influence the remaining 98% of costs through the information they provide on the prevention, diagnosis, treatment, and management of disease.
Molecular Diagnostics Reaching Maturity for Clinical Laboratory Testing
“Genome analytics are just another technology in the evolution of molecular diagnostics,” Boguski declared in his editorial.
“This[field] has now reached a stage of maturity that demands assessment of its routine clinical application.”
Golden summed it up in his blog post: “It’s not about the $1000 genome. It’s about big data generation and analytics for insight creation over the clinical course of a patient’s journey through cancer. This is a message that Mark feels we need to get in front of patients and treating physicians.”
—Pamela Scherer McLeod