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Meeting the challenges of genomic medicine

This article in the "Healthcare IT's 10xers" series goes beyond the hype to see how genomics is revolutionizing pathology, diagnostics and preventive care.

aws Apr 25, 2018 02:19 pm

Fifteen years after the human genome was first sequenced, genomic medicine is poised to transform healthcare. The Office of the National Coordinator for Health IT declared 2017 the dawn of “an era of individualized healthcare,” and leading providers such as Intermountain Healthcare and the Cleveland Clinic are making bold advances in the field.

It’s not just hype: While genomics remains a developing field in practice, experts say that fruits of the original Human Genome Project are already revolutionizing pathology, diagnostics and preventive care. Alzheimer’s treatment and oncology are early targets, but researchers are already broadening their focus toward a wide range of clinical therapies.

Genomic-based advances have already allowed researchers “to explore the multifactorial nature of human disease, to identify new potential therapeutic interventions and to study the differences in disease progression between males and females,” said John Quackenbush, professor of biostatistics and computational biology at Harvard’s Dana-Farber Cancer Institute. “We’ve even extended our methods to create models for any individual in a population, opening new opportunities for network-based precision medicine.”

(To learn more about the research that Quackenbush is engaged in, see his Pioneer Profile here).

“The opportunity is very real,” agreed Heidi Sofia, program officer at the National Human Genome Research Institute. “In particular targeted areas, (genomic medicine) is very much ready to be deployed.”

Sofia predicts providers will continue to move toward models that leverage genomics because of early successes in specialties such as cancer genomics and rare disease. “One aspect of this is ending the ‘diagnostic odyssey,’” Sofia said, removing much of the guesswork and inferences from diagnosis, treatment and preventive care.

Integrating data is key

An early pioneer in the integration of genomic data with existing sources, Cleveland Clinic opened its Center for Clinical Genomics several years ago to explore and advance the relationship between genomics and precision medicine. The center has already developed genomic training programs and has supported pilots across 14 clinical organizations, said Wilson Tang, MD, a cardiologist at Cleveland Clinic.

While Tang sees great promise in designing treatment for individuals, success will depend on integrating existing systems with new and much larger data sets. One Cleveland Clinic initiative has been focusing on new processes for integrating genomic data into electronic health records. The reason: Genomic data by itself is not enough.

“Precision medicine relies largely on access to patients’ genomic information, medical records, and the other related biological or environmental factors causing disease,” said Tang. But “a large percentage of medical data remain in disparate systems and cannot be easily accessed or analyzed. The lack of an accessible, consolidated view of each patient’s diagnostic images, health records, and medical and genomic information can hinder physicians from making the most informed clinical decision.”

Quackenbush agrees that integrating data from various sources to increase their value and meaning is essential.

“The problem we have is that the data are often fragmented and incomplete, and, in many instances, not captured in a useful form,” he said “But nearly every instrument in a hospital today is networked and can provide complex electronic data, giving us an amazing opportunity to collect data. Our challenge is to figure out how to collect it and to use it effectively.”

Resilient and Responsive Infrastructure

Solving this challenge, in particular, and overcoming other barriers to genomic medicine require a clear-eyed look at existing infrastructure. Healthcare IT decision-makers need to ensure that their underlying data platform scales as data sets expand exponentially, offers predictable and unprecedented performance, represents a cost-effective solution and simplifies data management.

  • Capacity and scalability: The National Institutes of Health estimates between 2 and 40 exabytes of storage capacity will be required by 2025 for the storage of human genomic data. “Transferring (genomic) data from one place to another is nontrivial due to the huge file size, complicating efforts to aggregate and analyze the data,” Tang said. “Archiving (next-generation sequencing) data and associated information for the whole enterprise is a huge undertaking and requires a sizable investment in maintaining and growing the requisite IT infrastructure and expert support.”
  • Simplified management and security: When leveraging data for healthcare, providers will need a platform that is both extremely secure and readily accessible. One can’t come at the expense of the other. “The major IT themes of precision medicine are the need to share data responsibly and maintain security and privacy,” said Sofia. “You just need so much data, and to be efficient with very large amounts of information.”
  • Speed: “People classify Big Data by the ‘three vees’ ― volume, variety and velocity ― or they extend it to ‘five vees,’ adding veracity and value,” said Quackenbush.  “I’m not sure about the last two, but we’ve clearly seen increases not only in the volume of data available in healthcare, but also in its variety and in the speed at which we can collect data.”

(See how the right data platform can improve productivity and speed critical information to providers)

“All of these needs and challenges call for cutting-edge, scalable technologies to provide centralized data repositories with high reliability, access speed and security,” said Tang.

New data platforms, including all-flash storage, hybrid platforms and cloud-based solutions, could accelerate development beyond what even the most optimistic industry experts expect.

“The undertaking is immense, [and] … there will be challenges ahead for sure,” Sofia said. But once providers have made the move to genomic medicine, the dividends are clear. “We’re aiming to apply the science that takes luck out of the equation.”

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