Disparities persist in testing for inborn errors of immunity despite sponsored program
Key takeaways:
- Historically marginalized populations may see underdiagnosed rates of inborn errors of immunity.
- Barriers beyond cost for patients may include lack of awareness of and access to testing.
Significant racial disparities persisted in genetic testing for inborn errors of immunity despite the removal of financial barriers, according to a study published in The Journal of Allergy and Clinical Immunology: In Practice.
Barriers outside of financial considerations may be at play in these disparities, Karen M. Gilbert, PhD, senior research analyst, department of population medicine, Harvard Pilgrim Health Care Institute, and colleagues wrote.
“Genetic testing is crucial for diagnosing inborn errors of immunity and enabling targeted therapies,” Gilbert told Healio.
Emerging research including studies by Gilbert and her colleagues indicating underdiagnosis of inborn errors of immunity among historically marginalized populations prompted the researchers to investigate potential disparities in genetic testing.
“Given the vital role of genetic testing in identifying inborn errors of immunity, investigating potential disparities became imperative,” Gilbert said. “Many studies point to cost as a significant barrier to genetic testing.”
Sponsored initiatives have covered the costs of genetic testing, which represent a significant concern for patients, the researchers said, but the impact of these programs on improving testing uptake was unknown.
“This study aimed to uncover disparities in genetic testing for inborn errors of immunity and evaluate the impact of no-charge programs on access to testing,” Gilbert said.
Study design, results
The retrospective cohort analysis used data from 18,603 patients (61.4% female) in the Optum deidentified Clinformatics Datamart (CDM) national claims database, which includes commercial and Medicare Advantage health plans in the United States.
The analysis also used data from the 6,681 patients (61.9% female) in the navigateAPDS program. Sponsored by Pharming Healthcare Inc., navigateAPDS covers 100% of the costs of genetic testing conducted by Invitae for inborn errors of immunity for qualified patients in the United States and Canada.
Invitae also provided data for 29,579 patients (54.2% female) who were tested for inborn errors of immunity without sponsorship.
Additionally, the researchers used a cohort of 46,710 patients (47.5% female) who received genetic testing for arrhythmia and cardiomyopathy through the Unlock Cardiomyopathy and Arrhythmia Program as a comparator group.
“Our research revealed significant socioeconomic, geographic and racial disparities in the uptake of genetic testing for inborn errors of immunity across the United States,” Gilbert said.
Most of the patients in the CDM cohort lived in urban areas (n = 16,708; 90.4%) and in predominantly white neighborhoods (n = 14,284; 77.3%). Also, most (n = 13,357; 71.8%) did not receive genetic testing during the study period.
Odds ratios for genetic testing based on residency included 0.95 (95% CI, 0.92-0.98) for areas of greater deprivation, 0.82 (95% CI, 0.71-0.96) for rural areas and 0.89 (95% CI, 0.81-0.98) for predominantly non-white neighborhoods.
The navigateAPDS cohort of patients who received sponsored testing for inborn errors of immunity included 5,644 patients (87.7%) living in urban areas and 5,042 (90.2%) self-identifying as white.
The Invitae non-sponsored cohort included 23,120 (87.5%) patients living in urban areas and 17,800 (82.6%) self-identifying as white.
Median Area Deprivation Index scores in the Invitae cohorts included 46 for the cohort of patients with sponsored testing for inborn errors of immunity and 42 for those who did not receive sponsored testing (P < .001), indicating greater deprivation.
“The no-charge genetic testing program significantly increased testing among patients in deprived areas, suggesting it effectively reduces financial barriers,” Gilbert said.
Median ages of genetic testing included 33 years for the sponsored cohort and 14 years for the non-sponsored cohort (P < .001).
There were no differences in proportions of rural residencies between the cohorts, the researchers said, but the sponsored cohort had a smaller percentage of historically marginalized populations.
“Despite removing cost barriers, minoritized racial and ethnic groups were still underrepresented relative to their disease burden,” Gilbert said.
Percentages of white patients included 90.2% (95% CI, 89.4%-91%) in the sponsored cohort and 82.6% (95% CI, 82.1%-83.1%) in the non-sponsored cohort, which the researchers called a significant difference.
Percentages of Black patients included 4.3% (95% CI, 3.7%-4.8%) in the sponsored cohort and 8% (95% CI, 7.7%-8.4%) in the non-sponsored cohort.
Overall, the researchers continued, American Indian and Alaska Native, Asian, Black, and Hispanic patients were underrepresented and white patients were overrepresented in both cohorts relative to the racial and ethnic composition of the U.S. population.
“This indicates the presence of additional barriers for these populations, such as systemic issues or trust-related factors, highlighting the complexity of health care disparities,” Gilbert said. “Tackling financial issues alone isn’t enough to ensure equitable access to genetic testing for all.”
American Indian and Alaska Native and Black patients also were underrepresented and white patients also were overrepresented in both cohorts, the researchers said, when rates of inborn errors of immunity documented as an underlying cause of death were compared between these cohorts and nationwide.
Although 21.3% of individuals with inborn errors of immunity documented as a contributing cause of death were Black, the researchers further noted, 4.3% of the sponsored cohort and 8% of the non-sponsored cohort were Black.
By comparison, the researchers said the 18.1% of the patients in the comparison cohort of patients with cardiomyopathy who were Black was representative of the 18.2% of patients who were Black among cardiovascular deaths in the United States.
American Indian and Alaska Native, Native Hawaiian or other Pacific Islander, and Hispanic patients were underrepresented in the cardiomyopathy cohort in comparison with rates of death among patients with cardiovascular disease, the researchers added.
Conclusions, next steps
These findings indicate persistent disparities in genetic testing for inborn errors of immunity among historically marginalized racial and ethnic groups despite sponsored services, the researchers concluded.
Patients may lack awareness about and knowledge of genetic testing as well as access to specialty clinics and genetic services, the researchers said, or they may have concerns about potential breaches in privacy, stigmatization and discrimination.
Physicians who serve these populations also may have fewer resources to integrate genomic medicine into their practices, the researchers continued. Or, these physicians might not be aware of sponsored programs, which may be promoted via immunology conferences or via direct outreach to specialty practices.
These explanations and others indicate that the causes of these disparities are not well understood, the researchers said, although they concluded that sponsored testing alone is not enough to end these disparities.
“Physicians can increase awareness,” Gilbert said, adding that they can “educate themselves and their patients about the availability and importance of genetic testing, focusing on minimizing fears related to privacy, stigmatization and discrimination.”
Gilbert also said that physicians can improve access by advocating “for more comprehensive genetic services in underserved areas” and collaborating “with specialty clinics to facilitate referrals.”
Next, she said, physicians can enhance training by participating “in continuous education to build confidence in recognizing and diagnosing inborn errors of immunity, ensuring timely and accurate referrals.”
Gilbert further encouraged policymakers to fund educational programs.
“Invest in targeted educational initiatives to improve genetic literacy among health care providers serving underserved populations,” she said.
Also, policymakers can promote inclusiveness by developing policies to ensure the wide promotion and accessibility of genetic testing programs, particularly for historically marginalized racial groups, she continued.
“Allocate resources,” Gilbert added. “Provide funding and resources to health care facilities in underserved areas, enabling them to integrate genomic medicine into routine care effectively.”
Further studies will be necessary to understand and address these barriers, the researchers said, to ensure equitable access to genetic testing, especially as indications and availability of genetic testing expand.
“Understanding barriers to genetic testing beyond cost is crucial. By talking to both health care providers and patients, we can uncover hidden factors,” Gilbert said.
This is particularly important as advances make genetic testing more common and effective, she continued, adding that changes in genetic testing must be tracked over time to truly measure the long-term impact of no-cost programs.
“Ultimately, the goal is to create solutions that improve access to genetic testing,” Gilbert said. “This research will help enhance awareness, trust, and availability of genetic testing for historically marginalized groups.”
For more information:
Karen M. Gilbert, PhD, can be reached at Karen_Gilbert@hphci.harvard.edu.
Perspective
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These findings are not surprising. There are many factors that influence access to genetic testing. Cost is certainly a significant barrier to many. There are likely many factors beyond cost, which can include access to specialists, tertiary care centers, transportation and pre-existing cultural beliefs regarding genetic testing, to name a few. In my practice, insurance and economics are the biggest barrier to obtaining genetic testing.
One thing we can do is recognition on a broader level of the importance and benefit of genetic testing in many diseases, including inborn errors of immunity. Insurance companies still put up many barriers to testing that, in many ways, have become standard in certain populations. In addition, there are many situations where early genetic testing actually saves money overall. Insurance company approaches to genetic testing have not, in many ways, adjusted to the current realities of medicine.
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