Sammanfattning
BACKGROUND: Genetic testing can provide a molecular level diagnosis in 70 % of cases of familial amyotrophic lateral sclerosis (ALS) and 10 % of sporadic cases. A molecular diagnosis may allow participation in clinical trials, but does not otherwise affect treatment. The significance in terms of the disease risk in relatives can be uncertain and the psychological burden is substantial. Testing thus poses ethical challenges. We have examined whether clinical practice conforms to international recommendations, which discourage genetic testing in typical cases of the sporadic variant.
MATERIAL AND METHOD: The medical records of all patients with amyotrophic lateral sclerosis at Akershus University Hospital during the period 2004–14 were reviewed.
RESULTS: Of 115 patients, family history was absent from the medical records of 44 (38 %). Diagnostic genetic testing was performed in five out of seven patients with familial amyotrophic lateral sclerosis as well as three with the sporadic form, either because disease progression was atypical or upon recommendation of a specialist in medical genetics who had examined the patient’s relatives. A further 11 patients with a proven mutation were referred from other hospitals. Of these, five were either recruited onto an external treatment study or subsequently enrolled in a research project on disease mechanisms linked to the department. Testing was limited almost exclusively to the SOD1 gene.
INTERPRETATION: The study revealed that genetic testing practice was restrictive, in line with recommendations, and that newly discovered ALS genes were rarely analysed. Patient autonomy and the requirement for a molecular diagnosis to participate in trials challenge such practice.