Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review
- 1 March 2021
- journal article
- review article
- Published by Springer Science and Business Media LLC in Zeitschrift für Neurologie
- Vol. 269 (2), 676-692
- https://doi.org/10.1007/s00415-021-10461-5
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.Funding Information
- University of Technology Sydney (PhD stipend scholarship)
This publication has 105 references indexed in Scilit:
- Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in JapanJournal of Human Genetics, 2013
- Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the NetherlandsClinical Genetics, 2012
- Developing a comprehensive, effective patient-friendly website to enhance decision making in predictive testing for Huntington diseaseGenetics in Medicine, 2012
- The genetics and neuropathology of frontotemporal lobar degenerationActa Neuropathologica, 2012
- Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centresEuropean Journal of Human Genetics, 2011
- EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) – revised report of an EFNS task forceEuropean Journal of Neurology, 2011
- Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic CounselorsGenetics in Medicine, 2011
- Healthcare experiences of families affected by Huntington disease: need for improved careChronic Illness, 2011
- Misunderstandings Concerning Genetics Among Patients Confronting Genetic DiseaseJournal of Genetic Counseling, 2010
- A Decade of Genetic Counseling in Frontotemporal Dementia Affected Families: Few Counseling Requests and much Familial Opposition to TestingJournal of Genetic Counseling, 2009