by Lauren O'Donnell

A teenage boy with unexplained swelling in the brain is in a coma at a hospital. With no clear diagnosis made, he undergoes a novel and experimental testing method where his cerebrospinal fluid is searched for the presence of genetic fragments of DNA. Some of them might belong to the pathogens (fungi, bacteria, other microbes) causing his disorder. This leads to a diagnosis of Leptospira, which is a lethal pathogen which can be, fortunately, treated with Penicillin.

Click HERE for full story in the NYTimes.

We are seeing an increasing number of cases, like the one above, that show us the promise of genomic medicine.

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With reduction in cost and the increased efficiency of whole genome sequencing, the cost and time to sequence a genome is no longer the rate limiting step. In addition, optimal care requires sophisticated integration of diverse molecular profiling technologies, which test genetic markers and match them to potential treatment options and promising clinical trials by sifting through patient case history treatments, clinical trial data, burgeoning medical literature, and emerging evidence. This creates information overload challenges for researchers working on discovering new therapies and healthcare providers who need to make treatment decisions in real time.

Three genomic medicine capabilities are transforming the healthcare and life sciences industry:

  1. The ability to rapidly generate genomic sequence at an affordable cost of less $1000.
  2. The ability to convert this sequence into meaningful applied insight, gene-based diagnostics and biomarkers (translational medicine).
  3. The increasing ability to use such information to prospectively deliver healthcare (personalized healthcare).

This represents a radical transformation opportunity for the life sciences industry as insights gained from genomic data can be used to more effectively select targets in the pre-clinical stage of drug discovery process. Access to genomic information can lead to a more precise identification of therapies that can be used in a targeted manner when delivering patient care.

Will the Life Sciences industry embrace this opportunity? We think so, based on the proliferation of genome based technologies within life sciences companies and new strategic acquisitions / partnerships that life sciences companies have been embarking on recently.

The computational challenge of processing whole genome data and performing the needed analysis by incorporating evidence from literature, clinical trials, and specific databases requires a new level of computing. We believe that cognitive computing will allow us to perform this analysis with ease, building a knowledge base that will continue to get better with every interaction. We expect that the electronic medical record will be increasingly augmented with genomic information, expanding the analysis capability and improving the ability to diagnose and treat patients.

What is IBM’s role in genomic medicine?

Snapshot

IBM has placed strategic importance on the role that genomic medicine will play in our lives by naming it as one of the “Next 5 in 5” technologies that will, profoundly, alter our way of understanding diseases at the molecular level and personalizing care. This requires scale, speed and smarts which IBM has addressed by creating an end-to-end reference architecture that defines the enterprise capability of data management, workflow orchestration and global access across key platforms for genomics, translational and personalized medicine. Based on this architecture, IBM has successfully built data-centric, software-defined and application-ready platforms in support of large-scale genomics sequencing, downstream data analytics and the delivery of personalized care. Almost a dozen of the world’s leading healthcare and life science organizations have adopted IBM reference architecture for their integrated research computing infrastructure.

Genomic analytics using IBM Watson is a new capability that is being pioneered in partnership with the New York Genome Center and is a reflection of IBM’s focus on genomic medicine. Comprehensive molecular profiling of tumors is becoming increasingly relevant for guiding cancer treatment and understanding the progression of disease. This promising endeavor, nonetheless, poses many challenges owing to the cumbersome and often semi-manual effort required to analyze genomic data in the context of growing biomedical knowledge and existence of many drug options. To address this challenge, IBM is developing an automated, cloud-based solution that uses computational biology approaches to analyze patient genomic data and highlight possible disease mechanisms along with potential anticancer drugs.

A joint project with Caris Life Sciences to accelerate personalized treatment in oncology is a great example and potential in the pharmaceutical arena. In this project, IBM high performance computing and software defined storage technology will manage growing scale and diversity of molecular profiling data in cancer care. These services deliver important information to help oncologists develop tailored therapeutic plans for each patient’s unique cancer, which could lead to better health outcomes and reduced costs to the healthcare system in general.

The time is now for genomic medicine – there is a new level of optimism. Let’s embrace the new future together and pave the way for genomic medicine with the ultimate goal of improving patient outcomes!

Author: Lauren O'Donnell

Lauren O'Donnell is the Global General Manager and Vice President - Life Sciences Industry. She is responsible for leading all aspects of IBM’s life sciences business including strategic direction, investment decisions and operations. Her team assists clients in addressing the industry imperatives of improving the clinical development process, acting on insights to increase sales and enhancing the relationships across the ecosystem with business model transformation.

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