Authors :
Presenting Author: Mia Reid-Bashir, BSc – University of Glasgow
Alina Esterhuizen, PhD – NHLS Groote Schuur Hospital
Katie Helbig, BSc – Children's Hospital of Philadelphia
Michael Hildebrand, PhD – University of Melbourne
Iscia Lopes-Cendes, MD, PhD – UNICAMP
Rebecca Macintosh, BSc – Sydney Children's Hospital
Gagandeep Singh, PhD – Dayanand Medical College Ludhiana
Chahnez Triki, PhD – Hedi Chaker Hospital
Sarah Weckhuysen, MD, PhD – Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium
Gaetan Lesca, PhD – Lyon University Hospital
Andreas Brunklaus, MD – Royal Hospital for Children
Rationale:
Significant advances in precision medicine emphasise the importance of genetic testing in the epilepsies. These developments could widen the existing diagnostic and treatment gap between high- and low-income countries. Limited knowledge of non-European ancestry genomes present challenges to testing interpretation globally. This study aims to determine the access to genetic testing in the epilepsies and associated challenges worldwide.
Methods:
The ILAE task force on clinical genetic testing in the epilepsies conducted a global survey study between May and Nov 2023. Details included demographics, genetic testing facilities and timelines, multi-disciplinary working as well as limiting factors and was distributed among epilepsy societies and associations. Global and regional differences in testing practices were compared using World Bank GDP per capita data to establish relationships with national income status.
Results:
A total of 1568 responses were received from 127 countries: Africa (23), Asia/Oceania (21), Eastern Mediterranean (16), Europe (48), North America (3) and South America (16). Paediatric neurologists were most numerous (49.8%) followed by 22.4% adult and 9.3% all-age neurologists and 6.5% medical/clinical geneticists.
Karyotyping was most accessible (71.5%) followed by Gene Panel sequencing (68.2%). Advanced technology (detailed gene panel/WESWGS) was accessible to 90.4% responders in high-income countries as opposed to 16.3% in low-income countries (p< 0.001). 12% of African and 26.1% of Latin American responders reported availability of Gene Panel sequencing for their patients which was significantly lower than the 63.1% in Europe (p< 0.001).
Gene Panel sequencing took a median of 84.0 days (SD 221.9) in public genetic testing laboratories as opposed to 42.0 days (SD 190.3) in private laboratories (p< 0.001).
Personal funding was reported the most common funding source for 37.5% responders in low-income countries as opposed to 8.6% in high-income countries (p< 0.001). Both high cost of testing and the need to personally fund testing were key limiting factors associated with a lower GDP per capita (p< 0.001). Countries with low GDP per capita lacked provision of national testing laboratories and relied more frequently on use of international laboratories (p< 0.001).
Conclusions:
In this large global survey investigating genetic testing in the epilepsies, we show that high cost, funding shortage and poor infrastructure are the source of clear disparity in access to genetic testing for epilepsy across lower income countries. Poor
knowledge of non-European ancestry genomes may heighten complexity of testing interpretation. Collaboration in genetic testing initiatives and engagement of local funding bodies in low-income countries may be key to addressing these challenges.
Funding: No Funding.