Clinical Informatics
GeneScreen
Description
GeneScreen is a screening program that aims to equip primary care clinics to detect medically actionable genetic mutations in their patients. By altering individuals and their healthcare providers to rare genetic mutations, the program can help care providers treat or even prevent diseases associated with these mutations.
RENCI's Role
RENCI developed an automated workflow to track a patient’s genetic information from the initial consultation, to genetic sample preparation made at various labs, to high throughput sequencing and data analysis. The system alerts the labs when samples leave one site to head to another and allows researchers to easily locate all samples. RENCI is also working to implement an analysis system to classify the genetic data based on whether or not a variant has been found and what it could potentially mean.
Given that a person’s genome contains 3 billion bases (DNA building blocks), processing and interpreting the information in even a single individual’s DNA can be a challenge. Interpreting data from multiple genomes collectively raises even more challenges for storing, managing, and querying these vast datasets. RENCI is meeting these challenges so that researchers can process and analyze genetic information from thousands of individuals in order to identify patterns and potentially predict variants in genetic disease and response to treatment.
