deciphEHR is a NYU Langone Health system-wide initiative designed to learn how best to implement genomic medicine. Human genome sequence variation provides valuable insights into disease susceptibility and etiology, enabling personalized treatment strategies. Today, biobanks are driving gene discovery and increasing the potential for such individualized genomic medicine. However, translating these findings into clinical decision-making remains challenging.

Our Mission

deciphEHR aims to bridge the gap between genomic research and clinical practice within the NYU Langone system, enhance gene discovery, and leverage the results to design implementation strategies for improvement of our patient’s health.

Our Approach

We capitalize on opportunistic patient ascertainment by obtaining residual (leftover) blood samples from routine clinical blood count (CBC) tests. Universal Consent is an umbrella consent protocol and form, initiated by Center for Biospecimen Research & Development (CBRD) at NYU Langone Health. Clinical CBC tubes remain in the lab for a few days for clinical needs (e.g., repetition of the test) and then are routinely discarded. For consented participants, we collect the residual blood instead of discarding it.

Our unique approach allows for scalable, low-cost, and efficient recruitment and specimen collection. We enhance these data with real-time updates from EHRs, including longitudinal and complex phenotypes and valuable clinical insights from EHR free text using machine learning (ML) and artificial intelligence (AI). From consent, through sample collection and sequencing to computational processing and analysis, our framework is designed with scalability in mind.

Five Module Design

The program is structured into five modules:

Module 1: Consenting Participants

Consenting patients using the NYU Langone Universal Consent Form in person, and remotely on the MyChart app (e-consenting).

Module 2: Specimen Collection

Utilizing the expertise and infrastructure of the Center for Biospecimen Research & Development (CBRD) to collect and process residual blood samples and preparing the samples for sequencing and other biological assays, in the form of dried blood spot (DBS) cards.

Module 3: Genomics

Genome sequencing through internal and external providers. Performing quality control and testing various emerging and novel technologies.

Module 4: Data Infrastructure

Building production pipelines and data warehouse solutions for the scalable post-processing, storage, and links to our EHR (Epic), while creating a user-friendly interface for researchers.

Module 5: Analysis

Analyzing genomic and EHR data and ensuring data quality across the entire project.

What’s Next?

We believe that transitioning from research to clinical practice will take a few years to implement. deciphEHR is poised to enable this transition within the NYU Langone system, becoming the research arm of our genomic medicine enterprise. This integrated approach has the potential to revolutionize medical research and healthcare delivery, ultimately leading to improved patient outcomes and disease management.