CHOP researchers receive funding to study disease risk specifically in African Americans

Philadelphia, July 1, 2020 – The National Institutes of Health (NIH) announced today that researchers from Children’s Hospital of Philadelphia (CHOP) are among the recipients of a multi-million dollar grant that focuses on the use of genomics to improve risk assessment for diverse populations and integrate the findings into clinical care.

The funding is provided as part of the Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network, which is supported by the National Human Genome Research Institute, part of the NIH. Over the next five years, eMERGE will provide $75 million in funding to support a coordinating center and clinical sites focused on better understanding disease risk and susceptibility by combining genomic and environmental factors and how future findings can help clinicans and patients manage disease risk.

CHOP’s Center for Applied Genomics (CAG) is one of the sites that will receive funds as part of the eMERGE Network. An eMERGE funding recipient for the past 8 years, CAG is the largest pediatric biorepository in the United States and has always focused on minority and underserved populations, with racial and ethnic minorities constituting the majority of its samples. African Americans represent about 90% of the whole genome sequence data CAG has contributed to eMERGE to date.

As part of this round of eMERGE funding, CAG will focus on five areas of research:

  • Generating and validating polygenic risk scores for multiple common diseases. These scores represent the risk of developing a specific disease that is carried by the individual’s genes and will help patients and providers learn about their risk of developing specific diseases and generate recommendations to improve health outcomes.
  • Examining legal, ethical and social implications of returning genomic risk assessments to children and their families in order to develop best practice guidelines.
  • Recruiting and engaging at least 2,500 new participants who have not previously enrolled with CAG, with at least 75% of those participants being African American.
  • Returning risk assessments to those same 2,500 participants and assessing healthcare outcomes across key disease areas informing both patients and healthcare providers.
  • Integrating polygenic risk scores with electronic health records to help increase the uptake in risk reduction recommendations.

“The Center for Applied Genomics and the National Institutes of Health have had an excellent partnership within the eMERGE Network, and we are thrilled to continue to build upon the valuable work that we have been able to achieve so far with particular emphasis on resolving diseases in diverse patient populations and minority groups,” said Hakon Hakonarson, MD, PhD, Director of the CAG at CHOP and Principal Investigator of the program. “The primary goals of this program are to identify disease risks faced by patients and their families and to determine the most appropriate actions we can take to improve health outcomes. The program specifically focuses on African American children and their families, who will constitute 75% of participants.”

The eMERGE Network will develop ways to better incorporate computer-based programs, which analyze electronic health records and provide reminders and prompts to healthcare providers, into clinical practice. This process, called electronic clinical decision support, is meant to help physicians and other healthcare professionals make clinical decisions for their patients.

The sites will use the newly developed protocols to estimate risk for common, complex diseases of public health importance, such as coronary heart disease, Alzheimer’s disease, and diabetes.


About Children’s Hospital of Philadelphia: Children’s Hospital of Philadelphia was founded in 1855 as the nation’s first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals, and pioneering major research initiatives, Children’s Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country. In addition, its unique family-centered care and public service programs have brought the 564-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit



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