Читать книгу Neurology - Charles H. Clarke - Страница 69

When considering genetic testing it is important to understand the practicalities, cost and the advertising pressures placed upon patients and their families.

A three‐tier approach is usual:

 Initial low cost screening for common defects

 Screening of rarer genes using a gene panel approach

 Diagnostic exome sequencing.

Predictive genetic testing is frequently offered to individuals at risk, such as in late‐onset autosomal dominant inherited conditions. Most experience of predictive testing comes from Huntington’s disease.

Important considerations:

 Do all involved understand the implications – work, insurance, plans, disclosure and confidentiality issues? In the past there has been a tendency to suggest that those potentially at risk have a duty to be tested. This pressure is now less common ‐ and there are situations where individuals prefer not to be tested.

 Does the individual – rather than another family member – really wish to be tested and give informed consent?