Lack of diversity in genomic research hinders precision medicine for nonwhite Americans

Lack of diversity in genomic research hinders precision medicine for nonwhite Americans

Publication date: Jul 03, 2019

Precision medicine is an approach that allows doctors to select treatments that are most likely to be effective in protecting a patient’s health or treating their disease, based on an understanding of the patient’s individual genes, environment, and lifestyle.

A team of researchers from institutions across the country, including the University of North Carolina at Chapel Hill, analyzed phenotypes of nearly 50,000 non-European individuals, identifying 65 new associations and replicating 1,400 associations between genes and diseases, highlighting the need for equitable inclusion of diverse populations in genetic research.

The study, known as Population Architecture using Genomics and Epidemiology (PAGE), was founded by the National Human Genome Institute and National Institute on Minority Health and Health Disparities to research the correlation between genetics and disease in ethnically diverse individuals in the United States.

In analyzing the genetic code of these diverse populations and comparing them to those of European descent, researchers identified 65 new genetic associations, or previously undiscovered positions along a chromosome where related genetic variants are located, that have not been found previously in European populations, but have the potential to be transferable to other groups that share components of genetic lineage, such as African ancestry, which can be found in both African Americans, Hispanics and Latinos.

When Hispanic/Latino individuals carry this sickle cell variant, as they commonly do in African ancestry populations, the estimated values of HbA1c levels could be erroneously lower, leading an individual to incorrectly think that they are free of type 2 diabetes or that their glucose is well under control.

It is also important to acknowledge the risk of misdiagnosing diseases if diverse populations remain unstudied.

Concepts Keywords
African American Genetic code
African Americans Race and health
Anemia Race
Cancer Epidemiology
Cardiovascular Disease Chronic condition
Chromosome Preventive healthcare
Chronic Diseases Healthcare quality
Correlation Social inequality
Department Academic disciplines
Diabetes Medical terminology
Epidemiology Health
Fred Hutchinson Articles
Genetic Chronic disparities
Genetic Code Obesity
Genetic Variant Incorrectly free diabetes
Glucose
HbA1c
Heart Disease
Hispanic
Hypertension
Latino
Latinos
Mixing
Mount Sinai
Native Hawaiian
Native Hawaiians
Nature
North Carolina
Obesity
Pacific Islander
Phenotypes
Seattle
Sickle
Smoked
Southern California
United States

Semantics

Type Source Name
gene UNIPROT RGS6
gene UNIPROT RASA1
disease MESH chronic disease
disease MESH lifestyle
drug DRUGBANK Tropicamide
disease MESH cardiovascular disease
disease MESH hypertension
disease DOID hypertension
disease MESH cancer
disease DOID cancer
disease MESH heart disease
disease DOID heart disease
disease MESH obesity
disease DOID obesity
gene UNIPROT SMIM10L2B
gene UNIPROT SMIM10L2A
gene UNIPROT LARGE1
drug DRUGBANK Dextrose unspecified form
drug DRUGBANK D-glucose
disease MESH sickle cell anemia
disease DOID sickle cell anemia
disease MESH type 2 diabetes
gene UNIPROT AMACR
disease MESH smokers
gene UNIPROT EAF2
disease MESH growth
gene UNIPROT PTPN5

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