Background: Alpers disease is commonly associated with polymerase ␥ deficiency and usually affects infants or young children. Objective: To report a juvenile case of Alpers disease due to mutations in the polymerase ␥ gene (POLG1).

Objective To understand contemporary genetic counseling and testing practices for late-onset neurodegenerative diseases (LONDs), and identify whether practices address the internationally accepted goals of genetic counseling: interpretation, counseling, education, and support. Methods Four databases were systematically searched for articles published from 2009 to 2020. Peer-reviewed research articles in English that reported research and clinical genetic counseling and testing practices for LONDs were included. A narrative synthesis was conducted to describe different practices and map genetic counseling activities to the goals. Risk of bias was assessed using the Qualsyst tool. The protocol was registered with PROSPERO (CRD42019121421). Results Sixty-one studies from 68 papers were included. Most papers focused on predictive testing (58/68) and Huntington’s disease (41/68). There was variation between papers in study design, study population, outcomes, interventions, and settings. Although there were commonalities, novel and inconsistent genetic counseling practices were identified. Eighteen papers addressed all four goals of genetic counseling. Conclusion Contemporary genetic counseling and testing practices for LONDs are varied and informed by regional differences and the presence of different health providers. A flexible, multidisciplinary, client- and family-centered care continues to emerge. As genetic testing becomes a routine part of care for patients (and their relatives), health providers must balance their limited time and resources with ensuring clients are safely and effectively counseled, and all four genetic counseling goals are addressed. Areas of further research include diagnostic and reproductive genetic counseling/testing practices, evaluations of novel approaches to care, and the role and use of different health providers in practice. Supplementary Information The online version contains supplementary material available at 10.1007/s00415-021-10461-5.

The development of standards for training and certification is essential to the credibility and integrity of a developing profession. Training and certification of genetic counselors in Australasia has undergone a detailed review during the past few years, resulting in changes to the way certification is obtained. This paper presents an overview of the process of developing a robust training and certification program which reflects the social and cultural environment of genetic counselors working in Australasia. A brief history of the development of the profession in Australasia is provided, followed by a detailed discussion of the recent development of Masters programs and a portfolio of work required for certification. The importance of consultation within the profession and with our colleagues in the field of human genetics is considered, and we provide a discussion of defining moments that occurred during the review. This paper is intended to provide a detailed description of genetic counselor training and certification in Australasia. We anticipate that our insights into the process of redevelopment of training and certification guidelines may be helpful for genetic counselors working in countries where certification requirements are being developed.

Purpose: Widespread, quality genomics education for health professionals is required to create a competent genomic workforce. A lack of standards for reporting genomics education and evaluation limits the evidence base for replication and comparison. We therefore undertook a consensus process with the aim of developing a recommended minimum set of information to support consistent reporting of the design, development, delivery and evaluation of genomics education interventions.Methods: Draft standards were derived from the literature (25 items from 21 publications).Thirty-six international experts were purposively recruited and completed three rounds of a modified Delphi process to reach consensus on relevance, clarity, comprehensiveness, utility and design. Results:The final standards include 18 items relating to development and delivery of genomics education interventions, 12 relating to evaluation, and one on stakeholder engagement. Conclusion:These reporting item standards for education and evaluation of genomics (RISE2 Genomics) are intended to be widely applicable across settings and health professions. Their use by those involved in reporting genomics education interventions and evaluation, as well as their adoption by journals and policy makers as the expected standard, will support greater transparency, consistency and comprehensiveness of reporting.Consequently, the evidence base of genomics education will be more robust, enabling highquality genomics education and evaluation across a range of settings.

Genetic testing and counseling is an emerging part of care for patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and their families. This scoping review aimed to map patients’ and relatives’ experiences of genetic testing and counseling for familial ALS and FTD and the factors influencing their decision to proceed with testing or counseling. Informed by the Joanna Briggs Institute methodology, 5 databases were systematically searched. Thirty studies from 39 references were included. A descriptive numerical summary analysis and narrative synthesis was conducted. Mostly positive diagnostic testing experiences were reported, but issues arose due to progressive disease and discordant results. Predictive testing impacted at-risk relatives, regardless of the result received, and psychosocial sequelae ranged from relief to guilt, worry or contemplating suicide. Four reproductive testing experiences were reported. Personal, familial and practical factors, and the lived experience of disease, informed decision-making. Greater uncertainty and complexity may be faced in familial ALS/FTD than in other late-onset neurodegenerative diseases due to clinical and genetic heterogeneity, and testing limitations. Genetic counseling models of care should consider this difference to ensure that individuals with, or at risk of, ALS/FTD are effectively managed. Implications for research and practice are discussed.