Database considers diagnoses and features when unzipping genetic disease


Rogue gene-perpetuated diseases beware — a novel online database comprised of copious amounts of patterned patient tidbits, from family history to genetic sequencing information, is giving researchers and providers a leg up in the diagnostic arena. 

The genetic avenger, PhenoDB, allows for clinicians to document instances of peculiar/unfamiliar genetic diseases for researchers from the Johns Hopkins University School of Medicine or the Baylor College of Medicine in Houston to analyze; if the committee confirms the utter uniqueness of the disorder, the patient and members of their family may be extended the opportunity to undergo free comprehensive genetic testing as a means to identify the assailing gene.

"PhenoDB is much more useful than I even thought it would be," said Ada Hamosh, MD, MPH, a professor in the McKusick-Nathans Institute of Genetic Medicine at the Johns Hopkins University School of Medicine, in a prepared statement. "Bringing all of this information together is crucial to figuring out what our genetic variations mean."

Hamosh and colleagues designed the database via the means of Baylor-Hopkins Center for Mendelian Genomics (BHCMG) four-year initiative with the help of Yale University and the University of Washington. The goal of the database, the researchers say, is to dig down deep and uncover the genetic roots of a disorder to accompany the more easily acquired symptomatic data.

Hamosh explained to PhysBizTech: “What PhenoDB does, is it collects family history information, standardized searchable phenotypic features and then previous clinical testing, imaging studies — you can upload anything, you can upload digitize slides, if there’s pathology you want to show, whatever you want to store you can store. It allows you to organize your data all in one place and for multiple people to access it depending on the restrictions you place on it.”

A more accessible version of The Centers for Mendelian Genomics whole-exome sequencing system, PhenoDB offers researchers and clinicians a secure think-tank for their prognoses and diagnoses, and a forum to obtain answers about the inner-most causes of patient disorders.

“The submitter, either a clinician or a researcher, can only see their own cases,” Hamosh said. “But the laboratory, on the other end of it, has permissions to see much more.” 

With its ability to hold supreme amounts of information and its nifty collaborative capabilities, PhenoDB may lend itself well to electronic medical records, providing a genomic supplement and thus a more comprehensive patient picture.

“I think it has a lot of utility,” Hamish said. “I would like to gets some aspects of PhenoDB or something like it built into electronic health records because right now the main providers don’t have searchable phenotypic features, they don’t collect those. And if you want to be able to go across a genetics clinic or even across your institution and see how many people have this or how much should we be prepared for people who are whatever your looking for. Most EHRs collect diagnoses, but not features and there’s a lot of value in that.”

“What we need in the electronic health record is family history information, phenotype information and genotype information,” Hamosh concluded. “We need to build systems that allow the computer to help us. My hope is that something like PhenoDB integrated with other aspects of the electronic health record allows us to enable point-of-care testing and point-of-care support for individual patients and also allows us to collect population-based information about trends and changes as you collect standardized phenotypic information. Not just diagnoses, but aspects.”

Explore PhenoDB here. More information on the database can be found in the upcoming May edition of Human Mutation.