Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review

Abstract

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.

Genetic counseling for prion disease: Updates and best practices

“…59 A recent study in genetic prion disease echoes the broader finding that although having a genetic disease in the family is stressful, predictive testing does not increase this stress level above baseline. 60 There is some indication that predictive testing rates are gradually rising in genetic prion disease, 61 in keeping with increased rates of genetic testing in neurology clinics in general 62,63 and perhaps reflective of a greater openness to predictive testing among young adults. 64 Just as some individuals will approach testing with ambivalence, others will approach it with self-knowledge that they wish to access their genetic informationwhether to relieve unwanted ambiguity, assert personal control, begin planning for the future, or simply out of a "need to know."…”

Mapping the Diverse and Inclusive Future of Parkinson’s Disease Genetics and Its Widespread Impact

“…While there is strong evidence for a potential use of genetic testing for monogenic PD, not only for diagnostic purposes, but also for precision medicine decisions, there are still significant limitations including the existence of variants with variable penetrance, variants of uncertain significance, and the presence of other susceptibility genetic factors [52]. Given the complexity of PD, it is strongly recommended to discuss the benefits and limitations of genetic testing during pre-test counseling sessions, including the risk of privacy loss and discrimination [53]. Since direct-to -consumer testing for common variants of LRRK2 and GBA genes is currently available, care providers must be trained in genetic counseling to address consultants' concerns.…”

Psychological Impact of Predictive Genetic Testing for Inherited Alzheimer Disease and Frontotemporal Dementia

“…Gaining insight into the full psychological characteristics that can influence the decision to undergo the predictive genetic analysis and impact the outcome of testing is of utmost importance to implement the procedure in clinical practice. This need becomes even more critical with recent diffusion of next-generation sequencing in neurology clinics 11…”

“…This need becomes even more critical with recent diffusion of next-generation sequencing in neurology clinics. 11 In Italy, within the Italian Dominantly Inherited Alzheimer and Frontotemporal Network (IT-DIAfN) project, a network of research centers with expertise in hereditary dementia developed a consensus protocol for genetic counseling and testing of affected individuals and healthy at-risk relatives with familial AD or FTD. 12 Local protocols were surveyed and harmonized across the Italian participating centers, referring to the current guidelines on genetic counseling and testing for late-onset neurodegenerative diseases.…”

“…This need becomes even more critical with recent diffusion of next-generation sequencing in neurology clinics. 11 …”