title: Quality assessment of genetic counseling process in the context of presymptomatic testing for late-onset disorders: a thematic analysis of three review articles.
abstract: Presymptomatic testing (PST) is available for a range of late-onset disorders. Health practitioners generally follow guidelines regarding appropriate number of counseling sessions, involvement of multidisciplinary teams, topics for pretest discussion, and follow-up sessions; however, more understanding is needed about what helps consultands effectively and the impact of amount and quality of genetic counseling on the psychosocial sequelae of PST for late-onset disorders. We conducted a thematic analysis of three review articles on quality of the genetic counseling process, aiming at (1) exploring current evidence; (2) identifying quality assessment indicators; and (3) making recommendations for genetic counseling practice in late-onset disorders. We undertook a systematic search of 6 relevant databases: 38 articles were identified and 3 fitted our inclusion criteria; after quality appraisal, all were included in the review. The number of sessions, time spent, consultation environment, follow-up, and multidisciplinarity were identified as variables for quality assessment. Research on counseling in the context of genetic testing in familial cancer tends to be related to outcomes and indicators for quality assessment, while research concerning other late-onset diseases is mainly focused on the psychological impact of the test results. The quality and content of the overall process in noncancer late-onset diseases is insufficiently articulated. Despite the fact that PST for Huntington disease and other degenerative conditions has been offered for more than 20 years, good methodological approaches to assess quality of genetic counseling in that context remain elusive. This restricts improvement of the protocols for genetic services and, in general, healthcare for the at-risk population.
authors.affiliation: Center for Predictive and Preventive Genetics-CGPP, Institute for Molecular and Cell Biology-IBMC, ICBAS, University of Porto, Porto, Portugal. milenaph@ibmc.up.pt
authors.forename: Milena
authors.initials: M
authors.lastname: Paneque
authors.forename: Jorge
authors.initials: J
authors.lastname: Sequeiros
authors.forename: Heather
authors.initials: H
authors.lastname: Skirton
mesh_terms: D017668:Age of Onset; D000465:Algorithms; D058070:Asymptomatic Diseases / Q000628:therapy; D042241:Early Diagnosis; D005817:Genetic Counseling / Q000592:standards*; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods* / Q000592:standards; D006801:Humans; D017410:Practice Guidelines as Topic; D011785:Quality Assurance, Health Care