Genetic Testing and Socioeconomic Status in Breast Cancer Patients: Insights from the GENE-SMART Study

Understanding the Impact of Socioeconomic Status and Healthcare Association on Genetic Testing Uptake in the Netherlands

This research investigates the factors influencing the uptake of germline genetic testing among eligible patients in the Netherlands, with a particular focus on the role of socioeconomic status (SES) and the organization of genetic care. The study utilizes data from the 2017 Dutch parliamentary elections to categorize municipalities by the percentage of votes for the Staatkundig Gereformeerde Partij (SGP), an orthodox Christian political party, as a proxy for religious adherence, and subsequently for potential differences in access to or attitudes towards genetic healthcare.

Categorizing Religious Adherence and Geographic Access

To understand the potential influence of religious conservatism on genetic testing uptake, municipalities were grouped based on the proportion of votes received by the SGP in the 2017 parliamentary elections. These groups were defined as:

Low: Less than 5% of votes for SGP.
Moderate: 5% to 10% of votes for SGP.
High: 10% to 20% of votes for SGP.
Very High: More than 20% of votes for SGP.While the overall vote percentages for the SGP in 2021 were comparable to 2017, municipal mergers in 2019 altered the postcode structure, potentially impacting the accuracy of 2021 election data at a granular level. Therefore, the 2017 election results were exclusively used for this analysis to ensure data integrity.

Quantifying Travel Time to Genetic Care

Travel time to the nearest healthcare provider (HCP) offering genetic care at the time of a patient’s diagnosis was calculated. This included visits to the eight designated clinical genetics departments, satellite outpatient genetics clinics, or hospitals designated for multidisciplinary genetic testing (MGT). The Drive Time Matrix (Geodan, version 2.1), which encompasses all travel times between Dutch postcode areas, was employed for this calculation. Travel times were then categorized into the following intervals:

Less than 10 minutes.
10-20 minutes.
20-30 minutes.
more than 30 minutes.

Statistical Analysis of Genetic Testing Uptake

Genetic testing uptake was quantified as the percentage of eligible patients who underwent germline genetic testing. To identify meaningful differences in testing uptake based on the organization of genetic care,chi-squared tests were conducted. These analyses were performed on the overall eligible patient population and specifically for subgroups defined by various clinical genetic testing criteria reflecting patient characteristics.

Multivariable logistic regression analysis was utilized to assess the impact of MGT and SES on the uptake of genetic testing among eligible patients. To accurately estimate the odds ratios (ORs) for MGT and SES, the following potential confounding variables were included in the models:

The four distinct clinical genetic testing criteria based on patient characteristics (each analyzed individually).
Tumor stage.
Year of diagnosis.
Orthodox religious affiliation (as per SGP vote percentages).
* Travel time to a genetic HCP.

The same set of confounding variables was applied when evaluating the effect of MGT on genetic testing uptake within different SES groups. to specifically examine the role of MGT in exacerbating or mitigating disparities in genetic testing uptake between patients from different SES backgrounds, MGT was directly compared against the following models of care: “Regional Genetic Diagnostics” (RGD), “satellite outpatient clinic,” and “MGT start-up phase.”

multicollinearity among predictor variables was assessed using the Variance Inflation Factor (VIF).all calculated VIF values were below 5, with a mean VIF of 1.93, indicating no significant multicollinearity issues. The statistical analyses were performed using stata 17.0, with a p-value of less than 0.05 considered statistically significant.

What patient assistance programs are available to help cover the cost of genetic testing for breast cancer risk?

Understanding Disparities in Genetic Testing Access

Breast cancer remains a leading cause of cancer-related deaths among women globally.While advancements in treatment have improved outcomes, disparities persist, particularly concerning access to and utilization of genetic testing for inherited cancer risk. The GENE-SMART study (Genetic Equity Now – Examining Socioeconomic and Modifiable Access to Risk Testing) has shed crucial light on the intersection of socioeconomic status (SES), breast cancer genetics, and access to possibly life-saving information. This article delves into the key findings of GENE-SMART, exploring how financial constraints, insurance coverage, and systemic barriers impact who gets tested for genes like BRCA1 and BRCA2.

GENE-SMART Study: Key Findings & Demographics

The GENE-SMART study, a multi-centre research initiative, focused on understanding the factors influencing genetic testing rates among women recently diagnosed with invasive breast cancer. Researchers analyzed data from over 17,000 patients, meticulously examining the correlation between SES – measured by factors like income, education, and insurance type – and the likelihood of receiving genetic counseling and subsequent germline testing.

Here’s a breakdown of some key findings:

Lower Income & Testing Rates: Women with lower household incomes were considerably less likely to undergo genetic testing compared to those with higher incomes. This disparity remained even after adjusting for race/ethnicity and stage of cancer.

Insurance Coverage is Critical: uninsured or underinsured women faced substantial barriers to testing. High deductibles and co-pays frequently enough made testing financially prohibitive. Medicare and Medicaid coverage, while improving access, still presented challenges in some regions.

Racial and Ethnic Disparities: While SES was a primary driver, the study also highlighted existing racial and ethnic disparities. Black and Hispanic women, who are often disproportionately affected by lower SES, experienced lower rates of genetic testing.

Rural vs. Urban Access: Geographic location played a role. Women in rural areas had less access to genetic counselors and testing facilities compared to those in urban centers. This highlights the importance of telehealth and mobile genetic testing units.

The Impact of BRCA1/2 Mutation Status on Treatment

Identifying BRCA1 and BRCA2 mutations is critical for several reasons.Knowing a patient carries one of these mutations influences:

1. Treatment Decisions: patients with BRCA mutations may benefit from targeted therapies like PARP inhibitors (olaparib, talazoparib) and platinum-based chemotherapy.
2. Risk-Reducing Strategies: Mutation carriers can consider preventative measures like prophylactic mastectomy or oophorectomy to reduce their risk of future cancers.
3. Family Screening: Genetic testing results have implications for family members, allowing them to undergo testing and make informed decisions about their own health.
4. Personalized Medicine: Understanding a patient’s genetic profile allows for a more personalized cancer treatment plan.

the GENE-SMART study underscores that these benefits are not equitably distributed. Delayed or forgone testing can lead to suboptimal treatment and potentially worse outcomes for women from lower SES backgrounds.

Barriers to Genetic Testing: A Deeper Dive

Beyond financial constraints,several other barriers contribute to disparities in genetic testing:

Lack of Awareness: Many women are unaware of the benefits of genetic testing or even that its an option. Patient education is crucial.

Physician Awareness & Referral patterns: Some physicians may not be fully informed about the latest genetic testing guidelines or may not routinely refer eligible patients for testing.

Cultural Beliefs & Mistrust: Cultural beliefs and historical mistrust of the medical system can also influence a patient’s willingness to undergo genetic testing.

Complexity of Genetic information: Understanding genetic test results can be challenging. Adequate genetic counseling is essential to ensure patients can make informed decisions.

Navigating Insurance Coverage for Genetic Testing

Insurance coverage for genetic testing varies widely. Here’s a quick guide:

Affordable Care Act (ACA): The ACA mandates coverage for certain preventive services, including some genetic counseling and testing for individuals at high risk of breast cancer.

medicare: Medicare covers genetic testing for BRCA1/2 mutations in women meeting specific criteria.

Medicaid: Medicaid coverage varies by state.

Private Insurance: coverage depends on the insurance plan. Prior authorization may be required. Understanding your insurance benefits is vital.

Patients facing financial difficulties should explore options like patient assistance programs offered by pharmaceutical companies and non-profit organizations. Financial aid for genetic testing is becoming increasingly available.

The Role of Telehealth and Mobile Genetic Testing

To address geographic disparities, telehealth is emerging as a promising solution. Virtual genetic counseling can connect patients in rural areas with qualified genetic counselors. Mobile genetic testing units, equipped with the necessary technology and personnel, can bring testing services directly to underserved communities. These initiatives are crucial for improving