title: The Cuban program for predictive testing of SCA2: 11 years and 768 individuals to learn from.
abstract: Having reported the world's highest prevalence of spinocerebellar ataxia type 2 (SCA2), health professionals in Cuba developed a program for the predictive testing of this condition. Between February 2001 and December 2011, a total of 1050 individuals requested their inclusion in the presymptomatic testing (PST) program. Their medical records were retrospectively analyzed in the present descriptive study. A total of 768 participants completed the protocol, 204 withdrew and 78 were excluded. The PST uptake was 24.91%. Females predominated and 70.96% had negative test results. Their main motivations were risk assessment in their descendants, physical and psychological preparation to cope with the disease and planning for the future. The profile of Cuban participants in the predictive testing program is similar to the one reported for other programs all over the world, nevertheless the genetic counseling practice at the community level is a distinctive aspect, which is valuable in providing at-risk individuals with wide and proper knowledge before their testing inclusion request. The SCA2 predictive testing program has high uptake rates and is renowned in our population. Future research is needed to assess the long-term psychological impact in the participants, their partners and relatives.
authors.affiliation: Predictive Genetics Department, Center for the Research and Rehabilitation of Hereditary Ataxias, Holguín, Cuba. taniacruz@hotmail.ca
authors.forename: T
authors.initials: T
authors.lastname: Cruz-Mariño
authors.forename: L
authors.initials: L
authors.lastname: Velázquez-Pérez
authors.forename: Y
authors.initials: Y
authors.lastname: González-Zaldivar
authors.forename: R
authors.initials: R
authors.lastname: Aguilera-Rodríguez
authors.forename: M
authors.initials: M
authors.lastname: Velázquez-Santos
authors.forename: Y
authors.initials: Y
authors.lastname: Vázquez-Mojena
authors.forename: A
authors.initials: A
authors.lastname: Estupiñán-Rodríguez
authors.forename: J M
authors.initials: JM
authors.lastname: Laffita-Mesa
authors.forename: R
authors.initials: R
authors.lastname: Reynaldo-Armiñán
authors.forename: L E
authors.initials: LE
authors.lastname: Almaguer-Mederos
authors.forename: M
authors.initials: M
authors.lastname: Paneque
mesh_terms: D000223:Adaptation, Psychological; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003462:Cuba / Q000453:epidemiology; D005192:Family Health; D005260:Female; D005817:Genetic Counseling / Q000523:psychology / Q000706:statistics & numerical data; D020022:Genetic Predisposition to Disease / Q000235:genetics* / Q000523:psychology; D005820:Genetic Testing / Q000379:methods* / Q000706:statistics & numerical data; D006801:Humans; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D012189:Retrospective Studies; D018570:Risk Assessment; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D014342:Truth Disclosure; D055815:Young Adult