Eliciting parental preferences and values for the return of additional findings from genomic sequencing
Abstract Health economic evidence is needed to inform the design of high-value and cost-effective processes for returning genomic results from analyses for additional findings (AF). This study reports the results of a discrete-choice experiment designed to elicit preferences for the process of retur...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2024-02-01
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| Series: | npj Genomic Medicine |
| Online Access: | https://doi.org/10.1038/s41525-024-00399-8 |
| _version_ | 1827326619380875264 |
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| author | Ilias Goranitis Yan Meng Melissa Martyn Stephanie Best Sophie Bouffler Yvonne Bombard Clara Gaff Zornitza Stark |
| author_facet | Ilias Goranitis Yan Meng Melissa Martyn Stephanie Best Sophie Bouffler Yvonne Bombard Clara Gaff Zornitza Stark |
| author_sort | Ilias Goranitis |
| collection | DOAJ |
| description | Abstract Health economic evidence is needed to inform the design of high-value and cost-effective processes for returning genomic results from analyses for additional findings (AF). This study reports the results of a discrete-choice experiment designed to elicit preferences for the process of returning AF results from the perspective of parents of children with rare conditions and to estimate the value placed on AF analysis. Overall, 94 parents recruited within the Australian Genomics and Melbourne Genomics programmes participated in the survey, providing preferences in a total of 1128 choice scenarios. Statistically significant preferences were identified for the opportunity to change the choices made about AF; receiving positive AF in person from a genetic counsellor; timely access to a medical specialist and high-quality online resources; receiving automatic updates through a secure online portal if new information becomes available; and lower costs. For AF uptake rates ranging between 50–95%, the mean per person value from AF analysis was estimated at AU$450–$1700 (US$300–$1140). The findings enable the design of a value-maximising process of analysis for AF in rare-disease genomic sequencing. |
| first_indexed | 2024-03-07T14:48:14Z |
| format | Article |
| id | doaj.art-07de25330c6448419d2e1e59b50e1f2f |
| institution | Directory Open Access Journal |
| issn | 2056-7944 |
| language | English |
| last_indexed | 2024-03-07T14:48:14Z |
| publishDate | 2024-02-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | npj Genomic Medicine |
| spelling | doaj.art-07de25330c6448419d2e1e59b50e1f2f2024-03-05T19:50:07ZengNature Portfolionpj Genomic Medicine2056-79442024-02-01911710.1038/s41525-024-00399-8Eliciting parental preferences and values for the return of additional findings from genomic sequencingIlias Goranitis0Yan Meng1Melissa Martyn2Stephanie Best3Sophie Bouffler4Yvonne Bombard5Clara Gaff6Zornitza Stark7Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of MelbourneHealth Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of MelbourneMurdoch Children’s Research InstituteAustralian GenomicsAustralian GenomicsInstitute of Health Policy, Management and Evaluation, University of TorontoMurdoch Children’s Research InstituteAustralian GenomicsAbstract Health economic evidence is needed to inform the design of high-value and cost-effective processes for returning genomic results from analyses for additional findings (AF). This study reports the results of a discrete-choice experiment designed to elicit preferences for the process of returning AF results from the perspective of parents of children with rare conditions and to estimate the value placed on AF analysis. Overall, 94 parents recruited within the Australian Genomics and Melbourne Genomics programmes participated in the survey, providing preferences in a total of 1128 choice scenarios. Statistically significant preferences were identified for the opportunity to change the choices made about AF; receiving positive AF in person from a genetic counsellor; timely access to a medical specialist and high-quality online resources; receiving automatic updates through a secure online portal if new information becomes available; and lower costs. For AF uptake rates ranging between 50–95%, the mean per person value from AF analysis was estimated at AU$450–$1700 (US$300–$1140). The findings enable the design of a value-maximising process of analysis for AF in rare-disease genomic sequencing.https://doi.org/10.1038/s41525-024-00399-8 |
| spellingShingle | Ilias Goranitis Yan Meng Melissa Martyn Stephanie Best Sophie Bouffler Yvonne Bombard Clara Gaff Zornitza Stark Eliciting parental preferences and values for the return of additional findings from genomic sequencing npj Genomic Medicine |
| title | Eliciting parental preferences and values for the return of additional findings from genomic sequencing |
| title_full | Eliciting parental preferences and values for the return of additional findings from genomic sequencing |
| title_fullStr | Eliciting parental preferences and values for the return of additional findings from genomic sequencing |
| title_full_unstemmed | Eliciting parental preferences and values for the return of additional findings from genomic sequencing |
| title_short | Eliciting parental preferences and values for the return of additional findings from genomic sequencing |
| title_sort | eliciting parental preferences and values for the return of additional findings from genomic sequencing |
| url | https://doi.org/10.1038/s41525-024-00399-8 |
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