Bridging the Gap: Addressing Inequalities in Access to Genetic Testing
In the United States (U.S.), the landscape of healthcare is complex, blending innovative technology with a web of economic, social, and policy factors that affect access to medical services. Among the most promising and rapidly evolving fields within healthcare is genetic testing, which has improved patient care by allowing assessment of genetic variants. Having this information gives healthcare providers the opportunity to best develop personalized treatment options and preventive care plans for patients. However, despite the proven impact genetic testing has on patient care, significant inequalities still exist to access testing, highlighting a critical issue at the intersection of healthcare innovation and equity.
THE PROMISE OF GENETIC TESTING
From testing for rare diseases to carrier screening to assessment for hereditary cancer, the applications of genetic testing are broad and impactful. It can guide clinical decisions, inform patients and their families about their health risks, and offer a pathway to proactive healthcare management.
DISPARITIES IN ACCESS: A MULTIFACETED CHALLENGE
Despite its benefits, access to genetic testing across different groups in the U.S. is unequal not equal. Disparities with access arise from several key factors including:
- Socioeconomic status (SES) can play an influential role in access to genetic testing1. Individuals from lower SES backgrounds can often face barriers to accessing healthcare services, including genetic testing. These barriers can include lack of insurance coverage, high out-of-pocket costs, and limited access to healthcare providers proficient in genetic testing. Studies have shown that people with higher incomes and private insurance are more likely to undergo genetic testing, illustrating a clear socioeconomic divide.
- Racial and ethnic disparities in healthcare are well-documented, and genetic testing often follows the same trend. African Americans, Hispanics, and other minority groups in the U.S. can be less likely to receive genetic testing compared to their White counterparts2. This gap can be attributed to a variety of factors, including language barriers, cultural differences, and possible levels of trust in the medical system.
- Geographic location also affects access to genetic testing3, and individuals living in rural or underserved areas may have limited access to specialized healthcare services. Genetic testing might only be available at larger hospitals, especially for testing that has been only available clinically in the last few years. This geographical barrier is compounded by a shortage of healthcare providers in these areas, making it difficult for patients to receive the care they need.
- Education, awareness and understanding of genetic testing are crucial for its utilization. However, there is a significant gap in awareness across different populations. Increased educational level is associated with better awareness and understanding of genetic testing4, leading to disparities in access for those with less education.
ISSUES WITH DATA EQUITY
The Nonprofit Quarterly article “Precision Medicine Has a Data Equity Problem” emphasizes the significant disparities in genetic testing and data collection that undermine the potential benefits of precision medicine. Precision diagnostics, which can help modify treatment plans based on an individual’s genetic makeup and health profile, has made significant strides in diagnosing diseases, developing treatments, and improving patient care.
However, the article highlights a critical issue: nearly 95% of genomic data used is derived from European ancestral populations. This lack of diversity in genomic databases leads to a data equity problem, where people from underrepresented racial and ethnic groups are less likely to benefit from the advancements in precision medicine. This imbalance can affect the diagnosis and treatment of diseases across different populations.
BAYLOR GENETICS AND THE TEXOME PROJECT
The Texome Project is an initiative that aims to bridge disparities in genomic medicine by making genetic services, including expert evaluations and molecular studies, more accessible and equitable across Texas and in particular among underserved populations. Coordinated by the Baylor College of Medicine (through a grant from the National Human Genome Research Institute), the project focuses on closing the gap in genetic care between different racial and ethnic groups, which often arise from financial, historical, and systemic barriers.
Baylor Genetics has been the sole sequencing provider for the Texome project since its inception in 2021. When patients are enrolled in The Texome Project, Baylor Genetics initiates Whole Exome Sequencing to gain comprehensive genetic insights. Patients are followed up for two years after testing results are available to allow for new information regarding their symptoms to be used to uncover critical information to inform their diagnosis and treatment.
“We don’t take no for an answer,” said Dr. Michael Wangler, principal investigator for The Texome Project and associate professor of Molecular and Human Genetics at Baylor College of Medicine. “We’ll reanalyze and keep working until we have some answers for these patients.”
Overall, The Texome Project represents a crucial step towards more equitable healthcare, in the field of genomic medicine, by ensuring that advanced genetic testing and expert genetic services are available to those who might otherwise be unable to access them.
BAYLOR GENETICS AND THE UDN
Baylor Genetics is partnered with the Undiagnosed Diseases Network (UDN) as its sole sequencing core for exome and genome sequencing. This partnership aims to provide answers for patients and families affected by undiagnosed conditions and contribute to the available scientific and clinical knowledge for these conditions. UDN is dedicated to serving as a resource to all, seeking to increase the representation of participants from underserved communities and rapidly growing immigrant populations. This ensures that genetic testing and research benefit everyone, not just specific subsets of the population. UDN is adding and refining demographic questions related to race, ethnicity, sex, gender, income, and educational attainment to its application process to better understand participants and the disease burden in underrepresented populations. It is also working to help educate clinicians, researchers, and students from institutions that serve primarily underserved and underrepresented patients on the evaluation of those with undiagnosed and rare conditions.
WHOLE GENOME AND WHOLE EXOME SEQUENCING
As genetic testing continues to become standard of care, there are comprehensive testing options that can aid clinicians with diagnosing and treating rare diseases. Baylor Genetics’ Whole Genome Sequencing and Whole Exome Sequencing tests are the most comprehensive tests available and offer clear results that can change patient outcomes, and we are committed to finding answers for you and your patients. With comprehensive precision diagnostic tests that can a achieve a greater diagnostic yield, these open new avenues for actionable treatment guidance, and are recommended as a first-tier test for several clinical indications including intellectual disability, developmental delays, and multiple congenital anomalies to provide the greatest chance to reach a diagnosis.
If you would like to learn more about Baylor Genetics and what makes Baylor Genetics unique, follow this link: https://www.baylorgenetics.com/about/.
WHOLE GENOME SEQUENCING (WGS)
Baylor Genetics WGS test provides a detailed examination of 98% of a patient’s entire genome. This test decodes around three billion base pairs of an individual’s DNA, offering a comprehensive overview of the genome. The benefits of WGS are vast, as it allows for the identification of genetic variations in any part of the genome, including both coding and non-coding regions. This is crucial because it can uncover mutations that other conventional genetic tests may miss, offering a more complete understanding of a patient’s genetic predispositions.
WHOLE EXOME SEQUENCING (WES)
While WGS examines the entire genome, Baylor Genetics also has a WES test that focuses on the exome. The exome constitutes about 1-2% of the genome but contains the majority of known disease-related genetic conditions that are caused by variants found within them. WES targets the protein-coding regions of genes, where a substantial proportion of genetic disorders originate. By concentrating on these critical areas, WES provides a cost-effective yet highly informative genetic test.
CONCLUSION
As genetic testing evolves, it will continue to improve healthcare outcomes through precision diagnostics and personalized medicine. However, realizing this requires concerted efforts to address the disparities that currently limit access to these innovative services. By continuing to acknowledge and address the socioeconomic, ethnic, and geographic barriers to genetic testing, the U.S. can move closer to a healthcare system that offers equitable access. With your help, bridging these gaps to access not only improves health outcomes for your patients but could also contribute to the overall health and well-being of the general population.
Initiatives like those that Baylor Genetics has with the Texome Project and UDN can help light the way forward, showing that with collaborative efforts, healthcare disparity gaps are being addressed and could one day be bridged. These initiatives serve not only as an example of medical advancement but also as a testament to the collective commitment towards inclusivity and justice in healthcare.
For more information on how to order one of our comprehensive genetics tests or to connect with Baylor Genetics, click here: https://www.baylorgenetics.com/contact/.
BAYLOR GENETICS
Baylor Genetics couples the fastest and most comprehensive precision diagnostics options to help clinicians, and their patients avoid a lengthy diagnostic odyssey, guide medical management, and make sure no patient with a genetic disorder gets left behind. We believe every patient deserves access to the best possible care.
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