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Genetic testing is becoming more commonplace in general and specialist health care, and should always be accompanied by genetic counselling, according to legislation in many European countries and recommendations by professional bodies. Personal and professional competence is necessary to provide safe and effective genetic counselling. Clinical and counselling supervision of genetics healthcare practitioners plays a key role in quality assurance, providing a safe environment not only for patients but for professionals too. However, in many European countries, genetic counsellors are still an emerging professional group and counselling supervision is not routinely offered and there are no enough evidences on the impact of these insufficiencies. This study aimed to explore the current status of genetic counselling supervision provision across Europe and to ascertain factors that might be relevant for the successful implementation of counselling supervision. A total of 100 practitioners responded to an online survey; respondents were from 18 countries, with the majority working in France (27%) and Spain (17%). Only 34 participants reported having access to genetic counselling supervision. Country of origin, the existence of a regulation system and years of experience were factors identified as relevant, influencing access and characteristics of counselling supervision. Although there is a growing number of genetic counsellors trained at European level, just a few countries have implemented and required as mandatory the access to genetic counselling supervision. Nevertheless, this is essential to ensure a safe and effective genetic counselling and should be regulated at the European genetic healthcare services., Competing Interests: Declaration of competing interest All authors declare that they have no conflicts of interest., (Copyright © 2023 The Authors. Published by Elsevier Masson SAS.. All rights reserved.)

Introduction: The national protocol of genetic counselling and pre-symptomatic testing for late-onset neurological diseases began in Portugal in 1995. Initially, it was accessible only to adults at-risk for Machado-Joseph disease, but was later extended to other hereditary ataxias, to Huntington's disease and to familial amyloid polyneuropathy caused by Val30Met mutation at the transthyretin gene. The aim of this study was to describe the profile of the population seeking pre-symptomatic testing, while also reflecting on the experience of conducting the protocol of multidisciplinary sessions since 1996., Material and Methods: We conducted a retrospective study and collected data from clinical records of consultands who requested pre-symptomatic testing at our centre in Porto (Portugal) during the first twenty years of practice (1996 - 2015)., Results: A total of 1446 records were reviewed. The most common reason for testing was to reduce uncertainty (41.7%). The rate of withdrawals before results disclosure was lower (16%) than reported in other international experiences with pre-symptomatic testing, while 45% of the consultands dropped out the protocol after learning the test results (73.5% of them were non-carriers). As far as the mutation carriers were concerned, 29.6% adhered to the protocol a year after test disclosure. Consultands that had learned about presymptomatic testing through healthcare professionals tended to adhere more to pre-symptomatic testing consultations., Discussion: The profile of Portuguese consultands at risk for late-onset neurological diseases is similar to those reported in other international programs. The largest group in this data set was the one comprising the subjects at risk for familial amyloid polyneuropathy caused by Val30Met mutation at the transthyretin gene, and it is likely that therapeutic options for this condition may have influenced this result. Adherence to pre-symptomatic testing may change in the future since effective therapies are available (or given the fact that people think effective treatments are imminent)., Conclusion: This study reflects the first comprehensive description of a Portuguese experience with pre-symptomatic testing for late onset neurological diseases. The development of innovative approaches to improve the consultands' experience with pre-symptomatic testing and their engagement in genetic departments is still a challenge in Portuguese genetics healthcare departments. A better coordination among primary care and genetics healthcare services is needed.

Introduction: The lack of tools for quality assessment of genetic counselling is recognized in national and international studies. The correlation of quality of healthcare practice with greater satisfaction of patients and affected families is also well established. The present study describes the development and validation of the first Portuguese scale for quality assessment of genetic counselling practice. It encompasses a proposal of a new tool for the evaluation of the process by professionals., Material and Methods: The definition of an initial pool of items and their organization was based on a literature review and identification of the main genetic counselling dimensions as well as the theoretical dimensions of the Reciprocal Engagement Model. After a pre-test validation the scale was submitted to psychometric validation using a sample of 30 participants who evaluated 81 genetic counselling sessions., Results: Based on statistical and empirical criteria the best items were selected. The final 50 items- version comprises five dimensions: education, counselees' characteristics and decision-making, therapeutic relationship, effects of the process on the counselees and services organization., Discussion: Results showed consistent psychometric properties of the scale supported on theoretical and practice concepts of genetic counseling. The reduced number of participants involved in psychometric validation is a limitation of the study, which reflected the reduced number of professionals in genetic healthcare services., Conclusion: The scale proposed at this study is a novel and multidimensional instrument that aimed to contribute to the improvement of genetic counselling practice in Portugal.

Presymptomatic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba started five years ago. We have now investigated the psychological impact of test results on 150 individuals at 50% risk for SCA2. In a prospective study, psychological instruments were used to evaluate depression, anxiety and family functioning (1) before testing and (2) one year after disclosure of the test result. One year after, anxiety and depression levels decreased both in carriers and non-carriers, but anxiety decreased significantly more in carriers. Pathological levels of anxiety were seen mostly in members of dysfunctional families, but decreased more in them than in other consultands. Presymptomatic testing thus seems to have been especially beneficial for these testees, possibly due to a greater gain from the psychosocial support received. It would be pertinent to evaluate now the impact of other psychosocial variables and perform longer-term longitudinal studies.

Background Early-onset (=40 years) and later-onset (=50 years) cases of familial amyloid polyneuropathy (FAP) ATTRV30M are not different entities, often coexisting in the same family, and showing anticipation (earlier age-at-onset (AO) in younger generations, usually associated with more severe phenotype). Historically, anticipation has been ascribed to ascertainment biases. Our aim was to study anticipation in a very large number of FAP kindreds, removing possible biases, and gain further insight into parent-of-origin effects. Methods We analysed 926 parent-offspring pairs (from the Unidade Clínica de Paramiloidose roster, collected in 70 years), both clinically observed and had well-established AO, correcting for intrafamilial correlations. Results Women had a significantly higher AO, either for daughters (mean: 33.70, SD: 6.84) vs sons (29.43, 6.08); or mothers (39.57, 11.75) vs fathers (35.62, 11.62). Also, 291 pairs showed marked anticipation (=10 years); the transmitting parent was the mother in 203 pairs. Motherson pairs showed larger anticipation (10.43, 9.34), while father-daughter pairs showed only a residual anticipation (1.23, 9.77). Gender of offspring and parents was highly significant (with no interaction). To remove possible biases, we repeated analyses: (1) excluding the proband; (2) removing pairs with simultaneous onset; and (3) excluding offspring born after 1960. Anticipation was found in all subsamples, with the same trend for a parent-of-origin effect. Noteworthy, parents with AO =40 years never had offspring with AO =50. Conclusions These findings confirm anticipation as a true biological phenomenon, also in FAP ATTRV30M. Acknowledgment of anticipation may have important clinical implications in genetic counselling of offspring and in follow-up of mutation carriers. [ABSTRACT FROM AUTHOR]