Hughes Dyfrig A, Plumpton Catrin O
Centre for Health Economics & Medicines Evaluation, Ardudwy, Normal Site, Bangor University, Holyhead Road, Bangor, Gwynedd, LL57 2PZ, Wales, UK.
Pharmacogenomics. 2018 Feb;19(3):243-247. doi: 10.2217/pgs-2017-0300. Epub 2018 Jan 12.
Pharmacogenetic tests are being used increasingly to prevent rare and potentially life-threatening adverse drug reactions. For many tests, however, cost-effectiveness is hard to demonstrate, and with the exception of a few cases, widespread implementation remains a distant prospect. Many orphan drugs for rare diseases are also not cost effective but are nonetheless normally reimbursed. In this article, we argue that the health technology assessment of pharmacogenetic tests aimed to prevent rare but severe adverse drug reactions should be on a level playing field with orphan drugs. This is supported by a number of arguments, concerning the severity, rarity and iatrogenic nature of adverse drug reactions, the distribution of benefits and costs and societal preference towards prevention over treatment.
药物遗传学检测正越来越多地用于预防罕见且可能危及生命的药物不良反应。然而，对于许多检测而言，成本效益难以证明，除了少数情况外，广泛应用仍前景渺茫。许多治疗罕见病的孤儿药也不具有成本效益，但通常仍可报销。在本文中，我们认为，旨在预防罕见但严重药物不良反应的药物遗传学检测的卫生技术评估应与孤儿药处于公平竞争环境。这得到了一些论据的支持，这些论据涉及药物不良反应的严重性、罕见性和医源性本质、收益和成本的分配以及社会对预防而非治疗的偏好。
