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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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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.
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Disparities in Genetic Testing for Neurologic Disorders.

Aaron Baldwin1, Juliette Copeland1, Meron Azage1

  • 1From the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.

Neurology
|March 6, 2024
PubMed
Summary
This summary is machine-generated.

Racial and socioeconomic disparities limit access to genetic testing for neurologic conditions. However, once accessed, genetic testing benefits all demographic groups equally. Addressing these barriers is crucial for health equity.

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Area of Science:

  • Neurology
  • Genetics
  • Health Disparities

Background:

  • Genetic testing is a standard for many neurologic conditions.
  • Health care disparities are prevalent in the US.
  • Disparities in neurogenetic testing utilization are understudied.

Purpose of the Study:

  • To test if access to and results of genetic testing for neurologic conditions vary by race, ethnicity, sex, socioeconomic status, and insurance.
  • To identify disparities in the neurogenetics evaluation pathway.

Main Methods:

  • Retrospective analysis of patients in a neurogenetics program (2015-2022).
  • Examined differences in attending evaluation, completing testing, and receiving results across demographic groups.
  • Used univariate and multivariable logistic regression, comparing to all neurology outpatients.

Main Results:

  • Black patients were less than half as likely as White patients to be evaluated (OR 0.49, p < 0.001).
  • Patients from the lowest socioeconomic quartile were less likely to be evaluated (OR 0.67, p < 0.001).
  • No disparities found in completing testing or receiving diagnostic results among those evaluated.

Conclusions:

  • Unequal utilization of neurogenetics services observed for marginalized groups, particularly Black patients.
  • When indicated and accessed, genetic testing benefits all demographic groups similarly.
  • Removing access barriers is essential for health equity in neurologic care.