Incorporating Cascade Effects of Genetic Testing in Economic Evaluation: A Scoping Review of Methodological Challenges.

Alexandra Cernat,Wendy J Ungar,Lisa A Prosser,Robin Z Hayeems

doi:10.3390/children8050346

Abstract

Cascade genetic testing is indicated for family members of individuals testing positive on a genetic test, and is particularly relevant for child health because of their vulnerability and the long-term health and economic implications. Cascade testing has patient- and health system-level implications; however cascade costs and health effects are not routinely considered in economic evaluation. The methodological challenges associated with incorporating cascade effects in economic evaluation require examination. The purpose of this scoping review was to identify published economic evaluations that considered cascade genetic testing. Citation databases were searched for English-language economic evaluations reporting on cascade genetic testing. Nineteen publications were included. In four, genetic testing was used to identify new index patients—cascade effects were also considered; thirteen assessed cascade genetic testing strategies for the identification of at-risk relatives; and two calculated the costs of cascade genetic testing as a secondary objective. Methodological challenges associated with incorporating cascade effects in economic evaluation are related to study design, costing, measurement and valuation of health outcomes, and modeling. As health economic studies may currently be underestimating both the cost and health benefits attributable to genetic technologies through omission of cascade effects, development of methods to address these difficulties is required.

Highlights

Genetic testing is a powerful diagnostic tool that can be applied to diseases affecting any organ system in the body [1,2,3,4]
Cascade testing may lead to initiation or cessation of periodic screening and surveillance, uncover the need for prevention measures (e.g., implantation of an implantable cardiac defibrillator to ameliorate the risk of sudden cardiac death in the case of cardiomyopathy (CMP)), trigger reproductive decision making, or trigger lifestyle modifications in family members [6]
Some economic evaluations focused on the relatives of index cases because they recognized that cascade costs and health effects can be substantial and have non-trivial implications for patient care and health systems decision making

Summary

Introduction

Genetic testing is a powerful diagnostic tool that can be applied to diseases affecting any organ system in the body [1,2,3,4]. These diseases may be hereditary, or mutations can arise de novo. Identifying a genetic diagnosis in a patient enables genetic testing or clinical screening of their family members to determine whether they may be at risk of developing the disease [3,5]. Cascade health service use is relevant for child health because children can both trigger health service cascades and be included in them

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Conclusion