Precision Medicine: Can Informatics Help Meet Expectations?


A little over two years ago, the Precision Medicine Initiative was announced to much fanfare at the prospect of one day being able to provide individuals with the right treatment at the right time, based largely on their unique genetic makeup, as well as environment and lifestyle factors.

Since the sequencing of the human genome, efforts have been underway to leverage genetic testing to find more tailored treatments and therapies for individuals’ conditions. The White House says “precision medicine is already transforming the way diseases like cancer and mental health conditions are treated,” and points to molecular testing and genetics to determine the best possible treatment. It put $215 million behind the initiative, which is collecting genetic data from volunteers, to be shared broadly with researchers and others involved in finding precision - or personalized - medicine solutions.

From a consumer perspective, precision medicine “is not yet delivering customized care.” In fact, there have been some troubling misdiagnoses and - more generally - difficulty for medical professionals to make individual treatment decisions based on the genetic data currently made available to them. 

Potential for Precision Medicine

Excitement at the potential for precision medicine, however, has not dimmed. Instead, government agencies, research institutes, medical professionals, and technology vendors are working hard to deliver on its promise.

In 2016, the U.S. FDA issued two sets of draft guidance to streamline regulatory oversight for Next-Generation Sequencing tests that are used to identify a person’s genome. The guidance will help developers of NGS-based tests as FDA works to ensure the tests are safe and accurate.

The first draft focuses on standards for designing, developing, and validating NGS-based in vitro diagnostics used for diagnosing germline (hereditary) diseases. The second draft guidance focuses on helping NGS-based test developers use data from FDA-recognized public genome databases to support clinical validity.

Data-Driven Precision Medicine

Bioinformatics joins NGS and drug discovery as technologies that will - in part - drive the global precision medicine market to nearly $173 billion by the end of 2024. The global market study said “proper storage of genome data plays a crucial part in this segment,” and reported acute data storage and data privacy issues remain to be solved.

Since precision medicine is a data-driven initiative, it makes sense that standards apply to how data – whether clinical or research  –  is collected, stored, analyzed, and used to support disease research, translational medicine, and drug discovery. PerkinElmer welcomes efforts to standardize big data analytics for precision medicine. 

Informatics platforms will be required that can: 

Support translational research with designated workflows

Securely consolidate public databases and patient information in a single solution

Provide analytical and visualization capabilities for data from a host of sources – electronic health records, clinical lab records, genetic testing and more

Integrate and aggregate data for cohort analysis

Leverage the cloud to increase access to the broadest range of data at a low cost

Enable self-service and effective collaboration within and across organizations

Want to leverage informatics to make the excitement for precision medicine a reality? Deploying the right informatics solutions can set you on the right path.

Download our white paper, The Need for an Informatics Solutions in Translational Medicine, to learn how our platform - designed to address the complexities of translational research - enables researchers to more quickly and easily identify and manage biomarkers essential to precision medicine.


Comments (1) -

  • Simone Sharma

    3/7/2017 5:59:57 AM |

    The recent Biomarkers Congress in Manchester also really stressed on the importance of understanding data and the infrastructure needed for it if Precision Medicine is to become a reality.

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