To standardize genetic counseling in Spanish for cases of autosomal dominant frontotemporal dementia (FTD) in Costa Rica.

Costa Rica is an upper-middle income country in Central America, with 5.2 million inhabitants. The prevalence of FTD is presumably like that of other countries. However, little is known about FTD in Costa Rica, and there are no reports of its genetics. Through a partnership with the ReDLat consortium, we aim to perform genetic testing on patients and their families. An initial challenge in this process is the lack of linguistically and culturally appropriate genetic counseling protocols. We therefore created a Spanish language adaptation of the ARTFL-LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) study’s genetic counseling Standard Operating Procedure (SOP).

A genetic counseling protocol was created by translating the ALLFTD SOP. Features of published strategies used for genetic counseling in Huntington’s disease in Latin America were incorporated. Psychiatric rating scales adopted by the Dominantly Inherited Alzheimer's Network were included into the protocol.

The protocol is divided into 6 sections: (1) Genetic counseling, (2) Mental health assessment of participants’ ability to process the results of testing, (3) Testing, (4) A one- to two-week delay to confirm with the participant whether to proceed with testing, (5) Results, (6) Follow-up. Psychiatric rating scales are applied in sections (2) and (6). The team necessary for the protocol includes at least one neurologist and one psychiatrist; but would ideally also include a psychologist and a genetic counselor.

The start of genetic testing for FTD and other dementias in Costa Rica requires standardization in genetic counseling. This protocol has been created as a first step in this initiative. Next steps include implementation and evaluation of the protocol.  This protocol could also be used in cases of suspected autosomal dominant Alzheimer's disease.