Rapid Innovation in NGS is Changing Healthcare

The Next Evolution in Precision Medicine

Dr. Eric Shadt, the CEO and Founder of Sema4 and Dean for Precision Medicine at the Icahn School of Medicine at Mount Sinai, recently presented a GenomeWeb Webinar entitled Rethinking Healthcare with Better Tools, More Information and Deeper Analysis. Sema4 is at the forefront of precision medicine and is leveraging the latest advances in computing and sequencing technology to change our understanding of human health. The team has developed a predictive, multiscale framework to better understand diseases such as coronary artery disease, inflammatory bowel disease, diabetes, asthma health, Alzheimer’s disease, cancer, and several other disease areas in addition to wellness. This solution aggregates data from a variety of data sources including scientific publications, second and tertiary analysis systems and of course, the Platform for Science, which drives Sema4’s scientific workflow.

Technological Advances and Precision Medicine

Dr. Shadt began the webinar by discussing the impact recent technological innovations in artificial intelligence and big data, have made to the world around us. These advancements, however, are eclipsed, both in speed of innovation and by the value to society, by the transformation that has occurred in healthcare through precision medicine. Dr. Shadt highlighted the progress on two fronts—technology and understanding.

Some of the most significant advancements have been to the quantity and quality of data that can be generated. Next Generation Sequencing (NGS) technology has broken Moore’s Law, the previously established technology rate of change created by Intel co-founder, Gordon Moore. The rapid advance of panomic technologies like NGS have changed the depth of information we can learn about a patient’s unique genotype. Sema4 uses the Platform for Science to manage its laboratory process for its complete NGS workflow. This enables quick adoption of the latest NGS instrumentation giving scientists the ability to easily manage and track data while accessioning and preparing samples, sequencing, monitoring key quality control (QC) parameters, and preparing NGS data for analysis.

The second major advancement has been our understanding of the individual patient. Today, we can bring together information gathered through sequencing, medical imaging technology, and data generated from wearable, implantable, and environmental sensors, all linked to personal smart devices. This aggregation of data transforms the scale, scope, and depth of information we can understand about a patient.

Interpreting Patient Data

One of the primary goals of precision medicine is the aggregation and interpretation of deep, longitudinal patient-specific data in the context of the digital universe of information, using advanced predictive analytics to better diagnose an​d treat patients, even down to tailoring individualized treatments. Sema4’s Resilience Project looked at patients who had the genetic predisposition for a disease, but didn’t present the illness versus those that did. Understanding what makes a person “protected” from a disease state could drive new therapies and change the way we treat disease. Data from the Platform for Science and other systems like Electronic Medical Records (EMR), were brought together into Sema4’s framework. This enabled the team to understand the health of an individual at the molecular, cellular, organ, organism and community scales, to better diagnose, treat, and prevent disease at a highly personalized level.

Watch the full webinar to learn how Sema4 is accelerating the engagement of big data and predictive models by patients, physicians, healthcare professionals, and researchers in ways that transform how the medical community diagnoses, treats, and prevents disease. ​



Trish Meek has been with Thermo Fisher Scientific for 18 years and is responsible for facilitating the integration of Core Informatics into the larger organization. During her time with Thermo Fisher, Trish has been focused on informatics solutions and has extensive experience with regulatory requirements and supporting customers in validated environments.