Genetic testing in Neurology
Lefroy H., Harrison V., Németh AH.
© 2020 Genetic testing is now an integral part of most areas of medicine, including Neurology. This article aims to guide clinicians on the pathways for genetic testing, including ethical dilemmas that can arise in the care of families with a confirmed or suspected genetic condition. The new UK National Health Service Genomic Medicine Service will alter the way genomic services are offered across the country. As genetics becomes mainstream, it is increasingly important for non-geneticists to keep abreast of developments, and be aware of potential pitfalls and when to seek specialist advice. We explain patterns of inheritance, their complexities and the important distinctions between pre-symptomatic, diagnostic and carrier testing. We explore the ethical framework for testing, including confidentiality and consent, and testing in children and at-risk relatives. We outline the core technologies for genetic and genomic testing and the importance of liaison with clinical genetics services and medical genetics laboratories to remain up to date with the availability and appropriateness of any genetic test.