Incorporating Cascade Effects of Genetic Testing in Economic Evaluation: A Scoping Review of Methodological Challenges
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 implication...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2021-04-01
|
| Series: | Children |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2227-9067/8/5/346 |
| _version_ | 1797536051716161536 |
|---|---|
| author | Alexandra Cernat Robin Z. Hayeems Lisa A. Prosser Wendy J. Ungar |
| author_facet | Alexandra Cernat Robin Z. Hayeems Lisa A. Prosser Wendy J. Ungar |
| author_sort | Alexandra Cernat |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T11:54:07Z |
| format | Article |
| id | doaj.art-6b3e4031e78f40a0b561a1b8b8703817 |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-10T11:54:07Z |
| publishDate | 2021-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj.art-6b3e4031e78f40a0b561a1b8b87038172023-11-21T17:28:01ZengMDPI AGChildren2227-90672021-04-018534610.3390/children8050346Incorporating Cascade Effects of Genetic Testing in Economic Evaluation: A Scoping Review of Methodological ChallengesAlexandra Cernat0Robin Z. Hayeems1Lisa A. Prosser2Wendy J. Ungar3Child Health Evaluative Sciences, Hospital for Sick Children, Toronto, ON M5G 0A4, CanadaChild Health Evaluative Sciences, Hospital for Sick Children, Toronto, ON M5G 0A4, CanadaSusan B. Meister Child Health Evaluation and Research Center, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109, USAChild Health Evaluative Sciences, Hospital for Sick Children, Toronto, ON M5G 0A4, CanadaCascade 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.https://www.mdpi.com/2227-9067/8/5/346cascade testinggenetic testingeconomic evaluationmethodologyscoping review |
| spellingShingle | Alexandra Cernat Robin Z. Hayeems Lisa A. Prosser Wendy J. Ungar Incorporating Cascade Effects of Genetic Testing in Economic Evaluation: A Scoping Review of Methodological Challenges Children cascade testing genetic testing economic evaluation methodology scoping review |
| title | Incorporating Cascade Effects of Genetic Testing in Economic Evaluation: A Scoping Review of Methodological Challenges |
| title_full | Incorporating Cascade Effects of Genetic Testing in Economic Evaluation: A Scoping Review of Methodological Challenges |
| title_fullStr | Incorporating Cascade Effects of Genetic Testing in Economic Evaluation: A Scoping Review of Methodological Challenges |
| title_full_unstemmed | Incorporating Cascade Effects of Genetic Testing in Economic Evaluation: A Scoping Review of Methodological Challenges |
| title_short | Incorporating Cascade Effects of Genetic Testing in Economic Evaluation: A Scoping Review of Methodological Challenges |
| title_sort | incorporating cascade effects of genetic testing in economic evaluation a scoping review of methodological challenges |
| topic | cascade testing genetic testing economic evaluation methodology scoping review |
| url | https://www.mdpi.com/2227-9067/8/5/346 |
| work_keys_str_mv | AT alexandracernat incorporatingcascadeeffectsofgenetictestingineconomicevaluationascopingreviewofmethodologicalchallenges AT robinzhayeems incorporatingcascadeeffectsofgenetictestingineconomicevaluationascopingreviewofmethodologicalchallenges AT lisaaprosser incorporatingcascadeeffectsofgenetictestingineconomicevaluationascopingreviewofmethodologicalchallenges AT wendyjungar incorporatingcascadeeffectsofgenetictestingineconomicevaluationascopingreviewofmethodologicalchallenges |