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.

Genetic Counseling in Portugal: Education, Practice and a Developing Profession

“…Other needs identified were the continuous training in genetic counseling for all health care professionals and the lack of effective tools to enable practitioners to assess quality of their services and subsequently improve their practice and patient care (Paneque et al 2014a). This is in accordance with current efforts to set up quality standard indicators and harmonized assessment of genetic counseling practice at European level, in a Delphi study with experts of genetics services (Paneque et al 2014b). This can stimulate further research and set the stage for changes in practice, by affirming genetic counseling as an integral component of genetic healthcare in Portugal.…”

Mixed method systematic review: the relationship between breast cancer risk perception and health‐protective behaviour in women with family history of breast cancer

“…All eligible papers were assessed for quality using the appraisal tool developed by Kmet et al (2004). This tool enables the assessment of both quantitative and qualitative papers using separate but comparable systems and this has frequently been used for mixed methods systematic reviews on similar topics (Legare et al 2008, Cunningham et al 2015, Paneque et al 2015. Two authors performed independent appraisals before discussing the outcomes.…”

Proposta de Uma Escala Portuguesa para a Avaliação da Qualidade do Aconselhamento Genético: Uma Nova Ferramenta para os Profissionais da Saúde

“…Complementarmente, efetuámos a análise de estudos nacionais sobre a perceção dos profissionais e dos consultandos acerca dos critérios relevantes para uma prática com qualidade. 11,12,21,25 Estes estudos qualitativos prévios serviram como validação cultural dos indicadores de qualidade do aconselhamento genético na população portuguesa (aconselhadores e consultandos), emergindo assim do contexto atual dos cuidados de saúde em Portugal a primeira versão da escala.…”

“…15,23 A inexistência de escalas de avaliação fundamentadas concetualmente e validadas empiricamente impede uma adequada auditoria dos serviços, o estudo das suas limitações e potencialidades e a comparação dos distintos modelos de prestação de cuidados. 24,25 Por este motivo, a criação de ferramentas para os profissionais avaliarem a sua prática clínica e medirem os parâmetros de competência é per se um contributo para o melhoramento dos serviços. 14 Surgiu assim a necessidade de desenvolver uma escala para avaliação da prática do aconselhamento genético em Portugal, que emergisse do contexto atual dos cuidados de saúde e que fosse capaz de dar resposta às lacunas anteriormente expostas.…”