Genetics Health Professionals’ Views on Quality of Genetic Counseling Service Provision for Presymptomatic Testing in Late‐Onset Neurological Diseases in Portugal: Core Components, Specific Challenges and the Need for Assessment Tools

Abstract

<jats:title>Abstract</jats:title><jats:p>Quality assessment of genetic counseling practice for improving healthcare is a challenge for genetic services worldwide; however, there is scarce literature regarding quality issues in genetic counseling in the context of presymptomatic testing for late‐onset neurological diseases (Paneque et al. <jats:ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="#CR30">2012</jats:ext-link>) The aims of this qualitative study were to: (1) explore the views of professionals’ who provide genetic counseling services for presymptomatic testing for late‐onset neurological diseases regarding relevant quality indicators for counseling practice; and (2) examine current assessment of such counseling practice for Portuguese genetic services. Quality indicators are a means of measuring either the process or outcomes of patient services, with the aim of evaluating and improving quality of care (Mainz <jats:ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="#CR23">2003</jats:ext-link>). In this study, we defined quality indicators as measurable outcomes of the counseling process that may reflect good professional practice and desirable end‐term effects. We undertook interviews with 18 genetic health professionals (85 % of all genetic counseling professionals involved) from the major genetic services in Portugal. Results indicate that professionals valued some core components of genetic counseling, including providing information and decision‐making support, informing the consultand about the genetic counseling protocol, as well as exploring motivations, expectations for test results, consequent anticipated life changes, psychosocial adjustment, and personal and familial experience with the disease. Professionals were not, however, able to clearly elucidate quality indicators for effective practice and some reported they had not reflected on that topic before. Professionals also reported specific challenges in their practice, such as ambiguity of the health/illness status and affirming consultands’ autonomy. Results of the study have revealed a lack of knowledge about quality indicators and tools to assess counseling practice. A credible set of quality indicators for presymptomatic testing is required as a foundation for the development of specific tools.</jats:p>