CASE STUDY
ASDBase
You don’t treat a label, you treat a person.
WHY
Problem
Autism spectrum disorder (ASD) is a developmental disorder that affects how individuals interact and interpret the world around them. In Canada, an estimated 1 in every 66 children between the ages of five and seventeen is diagnosed with autism. Autism can be in many forms, some mild and barely noticeable, and others that are more severe.
iTarget is a collaborative initiative between UBC, BC Children’s Hospital, and Genome BC for “Individualized Treatments for Autism Recovery using Genetic-Environmental Targets.” It is Canada’s first family-centred, genetics-based initiative that fully integrates research, clinical, and patient communities within British Columbia. They aim to get earlier and more accurate diagnoses of ASDs.
WHAT IS IT?
Solution
The iTarget Project aims to develop and populate a novel, searchable, large-scale database (ASDBase) to contain and enable the interrogation of complex and longitudinal data on patients with ASDs in British Columbia. This platform provides earlier and more accurate diagnoses of ASDs to help patients and their families manage the disorders to produce the best possible results.
We are expanding the platform to include partners in Ontario (Ontario Brain Institute, The Hospital for Sick Children, and Autism Speaks) as well as Quebec (McGill University and Roche) to create the first federated, global network for sharing genomics and clinical data to accelerate discoveries and the development of precision therapeutics in autism.
HOW
Our Process
The iTarget Strategy
The iTARGET strategy is now working toward diagnosing different types of autism earlier in life when interventions are most effective, and developing personalized behavioral treatments and medical therapies tailored to the specific type of autism found. We are becoming better informed and giving families more precise, evidence-based guidance to help them navigate treatment decisions, so their children can have the best possible outcomes.
Big Data Warehouse
ASDBase provides capabilities for clinical users to onboard and curate unstructured data into structured data. The database is responsible for storing and mining all available laboratory results and detailed phenotypes of recruited subjects for the clustering of distinct autism and other related neurodevelopmental subtypes. Clinical users can also upload and store data files (including imaging and labs) and import research data for normalization.
ASDBase is deployed in the Genome Science Center compute and data infrastructure within BC Cancer. The system has been in use for over two years. Currently, it contains one of the highest quality ASD datasets, including: clinome, phenome, whole genome, microbiome, “exposome,” metabolome, proteome, family history, psychometrics, and physical assessment data.
Clinician UI
The Clinician UI is a custom web-based application optimized for Chrome web browsers. Patient and user relational data are stored in the MySQL database, and critical patient identifiable fields are encrypted. The datasets and longitudinal data are stored as data collections in the MongoDB NoSQL datastore, and patient binary imaging data are stored directly as user data files. A data extractor utility with capabilities for PDF text tract, Excel data extraction, and optical character recognition is provided to extract and import data from data files with select formats. At Excelar, our expertise in big data ensures our compliance in securing the privacy of the data we work with.
