Managing and Maximizing the Volumes of Data Coming from Genomic Analysis

Payer approaches to population health analytics may be one of the keys to progress in using genomic data as part of clinical decision making

The field of precision medicine (PM) is poised to revolutionize medical care. As Lori Anderson of XIFIN explains, “Informatics is absolutely essential to PM because PM is reliant on data. Clinical decision making is data driven.”

Implementation of informatics in relation to precision medicine is still “in its infancy,” Anderson further notes. Informatics technology could provide health care professionals with ready access to accurate, timely, and integrated data. The potential contribution is enormous, she says, but much remains to be done to realize its full implementation.

A survey conducted by XIFIN in collaboration with The Journal of Precision Medicine highlights some of the challenges. The 182 respondents included doctors and hospital administrators in organizations that were looking for precision medicine or informatics solutions in their work.

“Many said that their current systems did not meet the needs of PM,” Anderson reports. Respondents highlighted the needs for better curation and integration of unstructured and structured data, data analytics, and real-time access to data; they also sought greater functionality of the systems already in place (presumably EMR and EHR).

The Challenge of Data Integration in a Decentralized System

The problem, Anderson notes, is that medical data is frequently stored in databases which struggle to communicate with each other due to vastly different formats and communication protocols.

“Interoperability is a challenge,” she says. The lack of standards across systems confounds the effort to curate data in a way that is easily accessible and meaningful, although companies are working to develop standards in the next 10 years. One of the goals of interoperability is to allow patients to be able to migrate their health data when they change providers or payers.

The degree to which data needs to be structured in order for it to be accessible to PM systems is sometimes underappreciated, according to Anderson. Artificial intelligence (AI) will play an increasing key role in the aggregation of large, complex data sets; image and pattern recognition; and improving analytics. AI will also be essential to managing the volumes of data coming from genomics analysis, but AI depends on properly formatted data to accomplish these tasks.

Bioinformatics Today

“Some organizations are trailblazers,” according to Anderson, bringing in components such as clinical decision tools. There have also been some successes in using technology to aggregate data for doctors. However, many health care providers still struggle to bring all of the different elements of information together. Some organizations may not be fully integrated with the laboratories and diagnostics which are sending the information. This data arrives in many formats (faxes, pdf files, etc.), and their systems may not structure the data to make it easily accessible.


Lori Anderson, BA (above), of XIFIN will share views on the current state of informatics in precision medicine, as well as challenges and future trends for this field, during the Precision Medicine Institute Symposium 2019, Thursday and Friday, May 2-3, at the Sheraton Hotel in New Orleans.

Anderson believes that informatics in precision medicine can benefit from the current methods used by payers, who are on the forefront of using population analytics to improve patient health. “Payers have the opportunity to bring their best practices for population health to more complex diseases like cancer.” 

Looking Forward, Getting Ready

Organizations need to ensure that their IT departments leverage AI through best practices of knowledge engineering to structure and integrate data. Use of various technologies—AI, image recognition, machine or deep learning—could be restricted by the data sets we have, Anderson says.

She also anticipates that the increasing volume and complexity of medical data will fuel the proliferation of large multidisciplinary teams (MDTs) who will use their collective knowledge to better serve their patients. Access to sophisticated informatics will be key to this endeavor.

To learn more about what hospitals, physicians, and payers need to know about precision medicine informatics, register for the Precision Medicine Institute Symposium 2019, which is taking place Thursday and Friday, May 2-3, at the Sheraton Hotel in New Orleans.

Anderson predicts that capturing and leveraging data collected from different sources, including wearable devices and health apps, will “change our understanding of disease and the benchmarks (for health) that we have now.” 

—Kristina Krok

Related Information:

Genetic Testing as Part of Primary Care and Precision Medicine is Underway at NorthShore University HealthSystem and Geisinger Health

View the Precision Medicine Institute Symposium 2019 Agenda

Register for Precision Medicine Institute Symposium 2019

Connecting Health and Care for the Nation (PDF)