title: Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study.
abstract: Genetic counselling for presymptomatic testing is complex, bringing both ethical and practical questions. There are protocols for counselling but a scarcity of literature regarding quality assessment of such counselling practice. Generic quality assessment tools for genetic services are not specific to presymptomatic testing (PST). Therefore, the aim of this study was to identify aspects of effective counselling practice in PST for late-onset neurological disorders. We used the Delphi method to ascertain the views of relevant European experts in genetic counselling practice, ascertained via published literature and nomination by practitioners. Ethical approval was obtained. Questionnaires were sent electronically to a list of 45 experts, (Medical Doctors, Geneticists, Genetic Counsellors and Genetic Nurses), who each contributed to one to three rounds. In the first round, we provided a list of relevant indicators of quality of practice from a literature review. Experts were requested to evaluate topics in four domains: (a) professional standards; (b) service standards; (c) the consultant's perspective; and (d) protocol standards. We then removed items receiving less than 65% approval and added new issues suggested by experts. The second round was performed for the refinement of issues and the last round was aimed at achieving final consensus on high-standard indicators of quality, for inclusion in the assessment tool. The most relevant indicators were related to (1) consultant-centred practice and (2) advanced counselling and interpersonal skills of professionals. Defined high-standard indicators can be used for the development of a new tool for quality assessment of PST counselling practice.
authors.affiliation: Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.|Centre for Predictive and Preventive Genetics, IBMC-Instituto de Biologia Molecular e Celular, UnIGENe, University of Porto, Porto, Portugal.|ICBAS, Universidade do Porto, Porto, Portugal.|School of Nursing and Midwifery, Plymouth University, Plymouth, UK.
authors.forename: Milena
authors.identifier: http://orcid.org/0000-0002-6535-4315
authors.initials: M
authors.lastname: Paneque
authors.affiliation: Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.|Centre for Predictive and Preventive Genetics, IBMC-Instituto de Biologia Molecular e Celular, UnIGENe, University of Porto, Porto, Portugal.|ICBAS, Universidade do Porto, Porto, Portugal.
authors.forename: Jorge
authors.initials: J
authors.lastname: Sequeiros
authors.affiliation: School of Nursing and Midwifery, Plymouth University, Plymouth, UK.
authors.forename: Heather
authors.initials: H
authors.lastname: Skirton
mesh_terms: D003697:Delphi Technique; D005006:Ethnicity; D005060:Europe; D005817:Genetic Counseling / Q000941:ethics / Q000592:standards*; D005820:Genetic Testing / Q000941:ethics / Q000592:standards*; D006801:Humans; D010820:Physicians / Q000592:standards; D011795:Surveys and Questionnaires; D000078329:Workforce