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Science Highlights

Reassessing Genetic Tests for Racial Bias

Some genetic tests may misdiagnose heart condition in African Americans

Image of a heart superimposed over a strand of DNAUsing updated information from detailed genetic databases, researchers found that genetic differences originally thought to be causative in the heart condition hypertrophic cardiomyopathy were actually harmless. These benign differences were up to 150 times more common in African Americans than in Americans of European descent. This means that African Americans were more likely to be prescribed needless tests, screening, and possibly even treatments. Dr. Isaac Kohane, a study author and NIH Common Fund grantee, says that including racially and ethnically diverse populations in clinical trials and genetic sequencing efforts is vital to ensuring information extracted from those efforts is relevant to more people. In fact, the researchers found they could accurately predict whether a genetic difference was harmful or benign 80% of the time in a study of 200 participants when one-third of the participants were African American. The study has important implications for personalized medicine where treatment decisions need to be based on data that take into account a person’s race and ethnicity.

Dr. Kohane was supported by a Common Fund grant for the Informatics for Integrating Biology and the Bedside (i2b2) center, one of the National Centers for Biomedical Computing.

In the news: Read a press release from Harvard Medical School about the study.

Reference: Genetic Misdiagnoses and the Potential for Health Disparities. Arjun K. Manrai, Birgit H. Funke, Heidi L. Rehm, Morten S. Olesen, Bradley A. Maron, Peter Szolovits, David M. Margulies, Joseph Loscalzo, and Isaac S. Kohane. New England Journal of Medicine. August, 2016; 375:655-665.


The Importance of Biomedical Informatics and the Impact of the National Centers for Biomedical Computing (NCBCs) featured in JAMIA

The March 2012 Issue of the Journal of the American Medical Informatics Association (JAMIA) highlights the efforts of the centers participating in the NIH NCBC program. An editorial history of the NCBC program is provided by Dr. Jeremy Berg, former NIGMS Director.

Reference:  JAMIA 2012 March; Volume 19, Issue 2. PMID: 22258292​.

Read the article here.

This page last reviewed on March 22, 2024