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Nationwide rare disease research study solves medical mysteries through data sharing and phenotyping

For the past five years the Undiagnosed Diseases Network (UDN) has used PhenoTips software on a daily basis to capture and securely share standardized phenotypic and family history data.

Who

The Undiagnosed Diseases Network (UDN) is a research study that brings together expert clinicians and researchers from across the United States to find answers for the most challenging undiagnosed cases. The UDN is composed of a Coordinating Centre based out of the Department of Biomedical Informatics at Harvard Medical School and 12 Clinical Sites located in 12 unique cities. Due to the isolated nature of the clinical sites, secure collaboration and data sharing between UDN clinicians and researchers is challenging yet invaluable. In addition, finding answers for the most mysterious medical cases requires the most advanced technology to capture standardized data and power analysis. For these reasons, the UDN has used PhenoTips to assist in their groundbreaking research since May of 2016.

After over five years utilizing PhenoTips, we spoke with Kimberly LeBlanc, the Associate Director of Research Operations at the UDN, to understand how the complete solution for medical genetics has impacted their ability to contribute to the understanding of human genetics, and help families and individuals who bear the burden of undiagnosed diseases.

The PhenoTips Impact

To ensure PhenoTips has continued to serve the needs of the UDN, we asked Kimberly LeBlanc how PhenoTips has changed the way expert clinicians and researchers work within the nationwide network.

Kimberly began by drawing attention to the benefits of the software’s standardized symptom capture, which includes not only deep phenotyping, but pedigree charting and family history capture.

“PhenoTips has enabled standardized phenotyping and collection of medical and family history information across twelve clinical sites in the Undiagnosed Disease Network,” she stated.


PhenoTips has made the most impact in the phenotyping space. The tool allows symptoms to be collected in a standardized way, which enables case matching and downstream analysis. PhenoTips software is used by UDN clinicians and researchers on a daily basis. Since it is connected to PhenomeCentral, PhenoTips also streamlines secure sharing of de-identified participant data with researchers outside of the UDN, a key step in finding other similar individuals and establishing patient cohorts.

Kimberly LeBlanc, Associate Director of Research Operations, Undiagnosed Diseases Network, Boston, MA, USA

In addition to capturing standardized and machine readable information, PhenoTips has enabled the network to share this data and collaborate, even across great distances. Kimberly highlights how important this functionality has been when it comes to finding answers for the undiagnosed.

“PhenoTips is integrated into our web-based research collaboration platform, standardized data can be shared instantaneously with other clinicians and researchers involved in the project. This facilitates data analysis as well as case matching, which are both crucial in the diagnostic process.”

PhenoTips is packed with a variety of tools for genetics, therefore the impacts can be wide-reaching and difficult to pin down. To get a better understanding of the value PhenoTips has brought to the UDN, we asked Kimberly where the complete solution for medical genetics has made the greatest impact.

“PhenoTips has made the most impact in the phenotyping space.” She reported, “the tool allows symptoms to be collected in a standardized way, which enables case matching and downstream analysis.”

While some genetic professionals are hesitant to adopt virtual workflows, Kimberly reported that UDN members make full use of the software, stating that, “PhenoTips software is used by UDN clinicians and researchers on a daily basis.”

She even reveals that the software facilitates collaboration with researchers who are not members of the UDN through PhenomeCentral, a repository for professionals working in the rare disease space.

“Since it is connected to PhenomeCentral, PhenoTips also streamlines secure sharing of de-identified participant data with researchers outside of the UDN, a key step in finding other similar individuals and establishing patient cohorts.”


PhenoTips is integrated into our web-based research collaboration platform, standardized data can be shared instantaneously with other clinicians and researchers involved in the project. This facilitates data analysis as well as case matching, which are both crucial in the diagnostic process.


In early 2020, the COVID-19 pandemic took the world by surprise, forcing clinicians and researchers to adapt to new circumstances as many genetic professionals found themselves working remotely. This posed incredible logistical challenges for those relying on traditional pen and paper methods, however, projects like the UDN that were accustomed to collaborating over great distances found their work unchanged.

“Since our instance of PhenoTips can be accessed remotely, UDN clinicians and researchers have continued to be able to use this tool during this unprecedented time.” Kimberly reported, “teams within and across sites have been able to access information via PhenoTips and continue analysis and operations.”

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