Populations whose ancestry is from Africa, Latin America and Asia are often under-represented in genetic studies compared to those of a European decent.  A 2009 analysis revealed that 96% of participants in genome-wide association studies (GWAS) included European populations. By 2017 the proportion of individuals included in GWAS who were not of European descent had increased to nearly 20%, with the majority of these studies focusing on Asian populations.

This under-representation of non-European populations will ultimately diminish the potential impact of precision medicine as current biases still exist within our databases. Populations that are especially under-represented include African Americas, who, for various reasons, are less likely than other ethnic groups to consent to genetic studies or allow DNA to be stored.

Studies like the Primary Open-Angle African American Glaucoma Genetics (POAAGG) aim to address the under-representation of African American populations in genetic studies through the investigation of methods of clinical recruitment and motivators for enrolment. This 5-year project, funded by the National Eye Institute, managed to recruit over 9000 individuals through community outreach programs (making it the biggest study of this kind!!) and led to the discovery of genetic risk factors for primary open-angle glaucoma.

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Dr Joan O’Brien, chair of the University of Pennsylvania’s Department of Ophthalmology, Scheie Eye Institute, Philadelphia, and primary investigator of POAAGG, joins our panel of experts on April 10th to discuss bias in genetic studies and what is being done to remove it.

Joan’s achievements have been recognized by a number of awards, including the Women in Ophthalmology Suzanne Veronneau-Troutman Award; American Academy of Ophthalmology Senior Achievement and Secretariat Awards; Laureate Award; and election to the National Academy of Medicine.

When: April, 10th 2018
Time: 9:00am PDT/ 12:00pm EDT/ 5:00pm BST
The webinar will be available on-demand after this date. 

Joining our panel of researchers are the experts on sample collection, DNA Genotek’s Director of Genomics Program, Mr. Scott Rabuka, and Vice President of Research and Development, Dr. Rafal Iwasiow. These speakers will share what has been learned about optimizing sample collection from working with thousands of researchers and clinicians worldwide.

  • Dr. Joan O’Brien, chair of the University of Pennsylvania’s Department of Ophthalmology, Scheie Eye Institute, Philadelphia, and primary investigator of POAAGG
  • Dr. Alicia Smith, Associate Professor and Vice Chair for Research, Gynecology and Obstetrics at Emory University School of Medicine
  • Scott Rabuka, Director, Genomics Program, DNA Genotek
  • Rafal Iwasiow, VP of Research and Development, DNA Genotek