Ose L, Vollebaek L E, Tonstad S
Medisinsk avdeling A Rikshospitalet, Oslo.
Tidsskr Nor Laegeforen. 1998 Apr 20;118(10):1578-81.
Familial hypercholesterolemia causes premature cardiovascular disease. Genetic screening of patients' relatives who have already been diagnosed has proved to be more efficient than screening in a general population. Privacy laws in Norway forbid physicians to directly contact persons with genetic disorders who are not their own patients. We examined attitudes towards this type of screening in a representative sample of the Norwegian population and a group of patients with familial hypercholesterolaemia. In both groups the majority showed a positive attitude towards physicians contacting relatives directly to detect individuals with familial hypercholesterolaemia. In both groups the majority wanted to know whether, based on the diagnosis of relatives, they might also be affected. Both groups wanted this information regardless of the risk of their being affected. We conclude that the privacy laws should be amended to conform with the attitudes of the population and the patients, thus enabling physicians to contact relatives directly.
家族性高胆固醇血症会导致心血管疾病过早发生。事实证明，对已确诊患者的亲属进行基因筛查比在普通人群中进行筛查更有效。挪威的隐私法禁止医生直接联系非自己患者的患有遗传疾病的人。我们在挪威人群的代表性样本和一组家族性高胆固醇血症患者中调查了对这种筛查方式的态度。在这两组中，大多数人对医生直接联系亲属以检测家族性高胆固醇血症患者持积极态度。在这两组中，大多数人都想知道基于亲属的诊断，自己是否也可能患病。无论自身患病风险如何，两组都希望获得此信息。我们得出结论，隐私法应进行修订，以符合民众和患者的态度，从而使医生能够直接联系亲属。
