Children’s Mercy Research Institute's ambitious Genomic Answers for Kids project uses PhenoTips to compile powerful, standardized patient and family information in a way that is integrated and easy for all to use.
Children’s Mercy Hospital is an expert hub for pediatric care for the wide region that includes Kansas, Missouri, and neighboring states. Established in 1897, the non-profit, independent hospital is repeatedly ranked one of the best children’s hospitals in the country by U.S. News. The hospital system, which employs almost 8,000 people and includes over 40 pediatric subspecialities, is divided into multiple regional centers, including Adele Hall, the main campus and the home of Children’s Mercy Research Institute.
Children’s Mercy Research Institute brings together nationally recognized experts to form multidisciplinary teams working together to accelerate the development of groundbreaking treatments and individualized therapies. Genomic Answers for Kids (GA4K) is one of the institute's research initiatives, a massively ambitious undertaking to build a first of its kind pediatric data repository to find answers and novel treatments for all pediatric disorders. Over a period of seven years, GA4K aims to collect the health information of 30,000 children and their families, building a database of nearly 100,000 genomes that will help facilitate rare disease diagnosis and end diagnostic odysseys.
Dr. Ana Cohen is a laboratory geneticist and member of the GA4K research team with a focus on the analysis and interpretation of genomic variants detected among pediatric rare disease patients. Dr. Cohen’s role in GA4K is the investigation of additional strategies for diagnostic success in rare diseases.
Undertaking such an ambitious and unique research initiative presented a series of challenges. Not only would a data repository of this size require a robust storage system capable of capturing the clinical and genomic data from tens of thousands of individuals, the large team of GA4K researchers, as well as other clinicians and researchers who contribute to the project, must be able to access and collaborate seamlessly on the database, regardless of their geographic location.
Since the project’s inception in 2019, over 3,000 patients and their family members have joined the study. GA4K employs multiple sequencing strategies and filters each patient’s expansive genomic data initially for technical noise and against public databases, and finally with clinical information to determine which detected rare variation is causative. This additional clinical information includes family history, which can help point to the mechanism of disease and inform family planning, and phenotype data which can be compared with genotype data to guide diagnosis.
With this in mind, the GA4K project required a software system capable of capturing and storing clinical data from 30,000 patients in formats that were machine readable and rare disease focused, so that variant prioritization tools could combine phenotypic data with genomic data to identify causative variants.
In addition, the data captured needed to be standardized and optimized for collaboration, since the large GA4K and wider Children’s Mercy team must work together as a team to build the ambitious database. GA4K also prioritized data sharing, as the team felt it imperative that the wider rare disease research community have access to the database in order to work together to accelerate diagnosis. Therefore, the team required a solution that would enable deidentification of patient data and facilitate collaboration, both within the large Children’s Mercy-based team and with the global rare disease community.
For GA4K and Children’s Mercy Hospital, the solution was simple. PhenoTips provided the groundbreaking research initiative with a digital solution designed for rare disease research and care that was capable of capturing and storing a wealth of patient data in standardized, machine readable formats as well as enabling internal and external collaboration.