Related Experiment Video
Updated: Jun 6, 2025
09:37
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
9.7K
Disparities in Genetic Testing for Inborn Errors of Immunity
Karen M Gilbert1, Heather M McLaughlin2, Jocelyn R Farmer3
1Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, Mass.
The Journal of Allergy and Clinical Immunology. in Practice
|November 23, 2024
Summary
Genetic testing for inborn errors of immunity (IEI) shows disparities. No-charge programs reduced socioeconomic gaps but racial inequities in IEI genetic testing persist, requiring further research for underserved groups.
Area of Science:
- Immunology
- Genetics
- Public Health
Background:
- Genetic testing inequities exist across diseases, with no-charge programs proposed to improve access.
- Disparities in genetic testing for inborn errors of immunity (IEI) and the impact of no-charge programs on testing equity remain understudied.
Purpose of the Study:
- To investigate socioeconomic, geographic, and racial disparities in IEI genetic testing uptake in the U.S.
- To assess the effect of a no-charge sponsored program on genetic testing equity for IEI.
Main Methods:
- Retrospective cohort analysis of a national claims database (18,603 IEI patients).
- Analysis of data from a genetic testing laboratory, comparing a no-charge sponsored program (6,681 IEI patients) with a non-sponsored program (29,579 IEI patients).
Main Results:
- Patients in deprived areas, rural locations, and non-White neighborhoods were less likely to receive IEI genetic testing.
- The sponsored program included individuals from more deprived areas than the non-sponsored program.
- Historically underrepresented racial groups remained underrepresented in both sponsored and non-sponsored programs relative to IEI disease burden.
Conclusions:
- Significant disparities in IEI genetic testing were identified.
- Eliminating financial barriers reduced socioeconomic disparities but did not resolve racial disparities in IEI genetic testing.
- Further research is essential to address testing barriers in underserved populations.
Related Concept Videos
02:30Genomic Imprinting and Inheritance
33.3K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
33.3K
01:35Pedigree Analysis
84.0K
Overview
84.0K
01:25Genetic Variation
259
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
Genes exist in different versions called alleles,...
259
01:20Inborn Errors of Metabolism
131
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
131
01:11Genome-wide Association Studies-GWAS
12.5K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
12.5K
01:23Behavioral Genetics and Its Designs
329
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
329