Barriers to genetic testing in lower income regions drive disparities in epilepsy
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Key takeaways:
- A limited understanding of non-European DNA may hinder genetic testing interpretations, leading to disparities in epilepsy.
- Whole exome sequencing may help address poor testing access in certain areas.
LOS ANGELES — Patients in Asia, Oceania, Latin America and Africa faced more barriers to genetic testing for epilepsy than those of other regions, which may complicate test interpretations in diverse populations, according to a presenter.
“Genetic abnormalities are thought to cause or influence 70% of epilepsy syndromes,” Mia ReidBashir, BSc, a fourth-year medical student and clinical researcher at the University of Glasgow, told attendees at the American Epilepsy Society annual meeting. “There is an existing diagnostic and treatment gap across low- and middle-income countries, with 50% to 75% of patients in these countries receiving no form of treatment.”
Reid Bashir and colleagues, with assistance from the International League Against Epilepsy (ILAE) task force, examined the global factors that shape the lack of access to genetic testing.
Their survey was conducted between May 2023 and November 2023. The researchers created the document in English and translated it into French, Spanish, Russian and Mandarin. It was distributed worldwide to all ILAE chapters, epilepsy societies, neurology associations and medical genetic societies. Data included demographics, genetic testing facilities and timelines, as well as additional mitigating factors working against testing availability.
A total of 1,568 survey answers across 127 nations were received, then analyzed across six principal ILAE regions (Africa, Asia/Oceania, Eastern Mediterranean, Europe, Latin America, North America), with regional and global differences in testing practices compared via World Bank GDP per capita data to adjust with income status of a given country.
According to the results, the greatest percentage of genetic testing availability for gene panel sequencing occurred in North America, Europe and the Eastern Mediterranean, with the lowest percentages found in Asia/Oceania, Latin America and Africa. For whole exome sequencing, the percentage ranking remained the same; however, there were greater percentages overall for Africa and Latin America with lesser percentage recorded in Asia/Oceania.
Data further showed higher overall turnaround times for all testing in public labs compared with private labs across all types (karyotyping, chromosomal microarray, single gene, gene panel, whole exome, whole genome).
The researchers also reported the greatest disparities in funding for genetic testing as well as in the cost of testing itself, were found in the Eastern Mediterranean, Asia/Oceania, Latin America and Africa. Personal funding was reported as the most common source for 37.5% of survey respondents in lower-income countries compared with 8.6% of respondents from higher-income locales.
“The main takeaways from this research are high cost of testing, funding shortage and poor infrastructure are the sources of clear disparity in access to genetic testing for epilepsy particularly in low-income countries,” Reid Bashir said. “Focusing efforts on whole exome sequencing may be the best method for addressing this.”