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Published on: August 15, 2019
Self-Reported Access to Specialized Genetics Providers Among Families of Young Children With Birth Defects in Texas
Dayana Betancourt1, Charles Shumate1, Caitlyn Yantz1
1Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas, USA.
Insights
Many families of children with birth defects in Texas do not access specialized genetics providers. This lack of access, particularly for those with spina bifida or encephalocele, highlights a critical gap in care.
Area of Science:
- Medical Genetics
- Public Health Surveillance
- Epidemiology of Birth Defects
Background:
- Specialized genetics providers are crucial for understanding and managing birth defects in children.
- The Texas Birth Defects Registry (TBDR) identifies children with birth defects for potential support services.
- Access to genetic services can significantly impact the medical care and outcomes for affected children.
Purpose of the Study:
- To assess the rate of access to specialized genetics providers among families of children with birth defects in Texas.
- To identify factors associated with lower access to genetic services within this population.
- To inform strategies for improving genetic service accessibility for children with birth defects.
Main Methods:
- The Birth Defects Epidemiology and Surveillance Branch (BDESB) surveyed 400 families of children in the TBDR starting November 2022.
- Parents were asked about their or their child's encounters with geneticists, genetic counselors, or genetics clinics.
- Chi-square tests were employed to determine associations between demographic/clinical characteristics and access to genetics providers (p < 0.05).
Main Results:
- A significant majority, 65% (261 out of 400) of families, did not recall accessing specialized genetics providers.
- Lower access rates were noted for children with spina bifida or encephalocele, isolated defects, and those without medical insurance.
- Factors such as younger maternal age, meeting CDC developmental milestones, and geographic location (e.g., Texas-Mexico border) were also linked to reduced access.
Conclusions:
- Over half of families in Texas with children diagnosed with specific birth defects are not utilizing specialized genetics services.
- Disparities in access exist based on defect type, insurance status, child development, maternal age, and region.
- Further research and targeted interventions are necessary to enhance the reach and utilization of genetic expertise for these vulnerable families.
Abstract:
Specialized genetics providers can help families of children with birth defects understand their child's condition and guide their medical treatment. The Birth Defects Epidemiology and Surveillance Branch (BDESB) routinely connects young children from the Texas Birth Defects Registry (TBDR) with select birth defects to agency social workers for assistance. Beginning in November 2022, social workers asked parents they reached: "Has the parent or child met with a geneticist or genetic counselor (or visited a genetics clinic)?". Responses were tabulated, overall and by select characteristics of interest. A chi-square test was used to evaluate if these characteristics were associated (p < 0.05) with self-reported access to a specialized genetics provider. Among the 400 families reached, 261 (65%) did not recall accessing specialized genetics providers. Lower access was observed among children with spina bifida or encephalocele, isolated birth defects, children without medical insurance, children meeting CDC developmental milestones, and younger mothers. Lower access was also observed in certain areas of the state, including the Texas-Mexico border. Our findings suggest that, in Texas, more than half (65%) of families of children with select birth defects are not accessing specialized genetics providers, and additional research is needed to work toward increasing access.
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