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More than 260,000 Penn Medicine patients have agreed to share their DNA for research, and the discoveries are just getting started

Tom Avril, The Philadelphia Inquirer on

Published in Health & Fitness

PHILADELPHIA -- Any changes in your medications or allergies? Check. New health issues since your last visit? Check.

And would you like to contribute a blood and DNA sample for a massive research project?

That last question is now part of the electronic check-in process for patients at Penn Medicine clinics and hospitals, and it already is yielding promising clues in the study of disease.

More than 260,000 people have signed up to participate in the project, called Penn Medicine BioBank, agreeing to have their samples stored in secure freezers set to negative 80 degrees Celsius. By cross-referencing participants’ DNA with their electronic health records, researchers have discovered genetic variants related to heart disease, hearing loss, diabetes, glaucoma, and muscular dystrophy, among other conditions.

The project began more than a decade ago and has doubled in size since the invitation to participate was incorporated into the electronic check-in process in 2020, making Penn’s one of the largest of a dozen similar efforts in the United States.

Rather than collect DNA from patients with a specific condition, the idea is to obtain samples from a wide cross-section of humanity, enabling researchers to tease out the genetic causes for a range of diseases, said geneticist Marylyn Ritchie, co-director of Penn’s program.

 

“We are disease-agnostic,” she said.

That concept — casting a wide net for clues to a range of diseases — is common at most biobanks, which have become an increasingly powerful research tool since the completion of the Human Genome Project in 2003.

Unlike most other biobanks here and abroad, Penn’s repository boasts a high percentage of samples from people of color. Nearly one-third are of non-European ancestry, including 17% who identify as African American — a group often underrepresented in clinical trials and other research.

The inclusion is crucial, as the rates of disease and the effectiveness of treatments can vary greatly in people of different racial and ethnic ancestry, Ritchie said.

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