TY - JOUR

T1 - Rare disease prevention and treatment

T2 - The need for a level playing field

AU - Hughes, Dyfrig

AU - Plumpton, Catrin

N1 - DAH received funding from the Medical Research Council North West Hub in Trial Methodological Research (NWHTMR) (MR/K025635/1), and is recipient of a Health and Care Research Wales Senior Research Leader award

PY - 2018/2

Y1 - 2018/2

N2 - Pharmacogenetics 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 pharmacogenetics 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 the preference placed on prevention over treatment.

AB - Pharmacogenetics 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 pharmacogenetics 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 the preference placed on prevention over treatment.

U2 - 10.2217/pgs-2017-0300

DO - 10.2217/pgs-2017-0300

M3 - Article

VL - 19

SP - 243

EP - 247

JO - Pharmacogenomics

JF - Pharmacogenomics

SN - 1462-2416

IS - 3

ER -