New Study Emphasizes Critical Need for Diversity of Research Participants in Genetic Studies

Studies of whites dominate the research literature to date despite being one of the smallest populations worldwide. 

A new paper in Nature presents evidence that the field of human genetics must improve the diversity of research participants to avoid worsening existing health inequities among different racial and ethnic groups, particularly where heart disease is concerned.

Blood cholesterol levels (also called lipid levels) are both highly genetic and a highly treatable health trait, and serve as a primary risk factor for heart disease, the leading cause of death worldwide. However, most previous genome-wide association studies, a study design used to detect associations between genetic variants and common diseases or traits in a population, have been conducted in European ancestry populations. Therefore, they may have missed genetic variants contributing to lipid level variation in other ancestry groups. 

The Nature article is a large collaboration with hundreds of coauthors from over 200 studies in 44 countries. It takes a look at the blood cholesterol levels of around 350,000 participants with Hispanic, African, East Asian, or South Asian ancestry, in addition to 1.3 million participants with European ancestry.

The paper’s key findings include:

  • Most genetic variations that influence lipid levels are observed across all populations, but at least some variants are uniquely observed in one population, particularly among individuals with African ancestry or Hispanics.
  • The ability to pinpoint the genetic variants most likely responsible for biological effects and to predict lifelong LDL cholesterol (“the bad cholesterol”) levels using genetic risk scores improves significantly when the initial genetic study includes diverse ancestries.
  • There is a need not only for future larger genetic studies of lipid levels but also for studies that prioritize the enrollment of individuals from diverse ancestries to improve genetic studies of health traits and diseases, such as cardiovascular disease.

“A sensible and equitable approach is to ensure diverse ancestries are represented in genetic studies whenever possible. Diversity helps to determine the degree to which findings can be generalized to other health traits and diseases, says Yan Sun, PhD, associate professor of epidemiology, who is co-senior author on the paper.

Article published courtesy of Emory University

Atlanta Site Added to NIH Clinical Trial of a Vaccine for COVID-19

Emory University in Atlanta will begin enrolling healthy adult volunteers ages 18 to 55 years in a Phase 1 clinical trial of an investigational vaccine designed to prevent coronavirus disease 2019 (COVID-19).

Transmission electron micrograph of SARS-CoV-2 virus particles, isolated from a patient. Image captured and color-enhanced at the NIAID Integrated Research Facility (IRF) in Fort Detrick, Maryland.
Credit: NIAID

The trial, supported by the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, began last week at Kaiser Permanente Washington Health Research Institute (KPWHRI) in Seattle. KPWHRI and Emory are part of NIAID’s Infectious Diseases Clinical Research Consortium

The trial aims to enroll a total of 45 participants across the two sites. NIAID scientists and clinicians have been closely monitoring the outbreak of COVID-19 in Washington and throughout the United States. They decided to expand the trial to another geographic area to ensure efficient enrollment.

Evan Anderson, M.D., associate professor of pediatrics and medicine, and Nadine Rouphael, M.D., associate professor of medicine, will lead the study at Emory. Participants will receive two shots of the experimental vaccine approximately one month apart and will be followed for approximately one year. The vaccine, called mRNA-1273, was developed by scientists at NIAID’s Vaccine Research Center and the biotechnology company Moderna, Inc. The Coalition for Epidemic Preparedness Innovations (CEPI) supported the manufacturing of the vaccine candidate for the Phase 1 clinical trial.

Local ophthalmologists are learning to provide specialized care to Ebola survivors in the DRC

Knowledge gained following the 2014–16 West Africa Ebola outbreak identified a number of challenges survivors face, including reduced or blurred vision stemming from inflammation of their eyes. About 20% of survivors from that outbreak had some form of eye problem.

Muhindo, a young Ebola survior, has his eyes tested by Dr Steven Yeh
WHO/J. D. Kannah

By identifying and treating these problems early, serious consequences, including blindness, can be averted. With the Ministry of Health of the Democratic Republic of the Congo (DRC), the World Health Organization recently organized an eye clinic to check on the eye health of survivors of the current Ebola outbreak.

The clinic was held in Beni, DRC, one of the affected areas, from 25 March to 1 April. In addition, an eye clinic in Butembo, another affected area, was equipped so that they can provide this specialized care to survivors there. This is the first time in an Ebola outbreak that follow-up for eye care has happened so soon after survivors have been released from care.

Several survivors also helped with the planning and administration of the clinic. Partners in this project include Emory University, which deployed two ophthalmologists, and University of North Carolina which deployed one ophthalmologist to the project via the Global Outbreak Alert and Response Network, which is hosted by WHO.

2015 Publication of The Specimen Newspaper in Freetown, Sierra Leone

Editor’s note: Cases of poor eye sight and heart diseases, among others, were reported by some Ebola survivors in Sierra Leone. The Specimen Newspaper reported the stories to alert the authority and stakeholders about the health challenges of the survivors in post Ebola period.

This medium’s editorial policy is centered on public health issues and development and is open to ideas and publications to be published for better information dissemination. With information the readers would be able to take informed health decisions.