Uncertain futures and unsolicited findings in pediatric genomic sequencing: guidelines for return of results in cases of developmental delay
Abstract Background Massively parallel sequencing techniques, such as whole exome sequencing (WES) and whole genome sequencing (WGS), may reveal unsolicited findings (UFs) unrelated to the diagnostic aim. Such techniques are frequently used for diagnostic purposes in pediatric cases of developmental...
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| Format: | Article |
| Language: | English |
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BMC
2023-11-01
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| Series: | BMC Medical Ethics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12910-023-00977-y |
| _version_ | 1797629962665066496 |
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| author | Candice Cornelis Wybo Dondorp Ineke Bolt Guido de Wert Marieke van Summeren Eva Brilstra Nine Knoers Annelien L. Bredenoord |
| author_facet | Candice Cornelis Wybo Dondorp Ineke Bolt Guido de Wert Marieke van Summeren Eva Brilstra Nine Knoers Annelien L. Bredenoord |
| author_sort | Candice Cornelis |
| collection | DOAJ |
| description | Abstract Background Massively parallel sequencing techniques, such as whole exome sequencing (WES) and whole genome sequencing (WGS), may reveal unsolicited findings (UFs) unrelated to the diagnostic aim. Such techniques are frequently used for diagnostic purposes in pediatric cases of developmental delay (DD). Yet policy guidelines for informed consent and return of UFs are not well equipped to address specific moral challenges that may arise in these children’s situations. Discussion In previous empirical studies conducted by our research group, we found that it is sometimes uncertain how children with a DD will develop and whether they could come to possess capacities for autonomous decision-making in the future. Parents sometimes felt this brought them into a Catch-22 like situation when confronted with choices about UFs before undergoing WES in trio-analysis (both the parents’ and child’s DNA are sequenced). An important reason for choosing to consent to WES was to gain more insight into how their child might develop. However, to make responsible choices about receiving or declining knowledge of UFs, some idea of their child’s future development of autonomous capacities is needed. This undesirable Catch-22 situation was created by the specific policy configuration in which parents were required to make choices about UFs before being sequencing (trio-analysis). We argue that this finding is relevant for reconfiguring current policies for return of UFs for WES/WGS and propose guidelines that encompass two features. First, the informed consent process ought to be staged. Second, differing guidelines are required for withholding/disclosing a UF in cases of DD appropriate to the level of confidence there is about the child’s future developmental of autonomous capacities. Conclusion When combined with a dynamic consent procedure, these two features of our guidelines could help overcome significant moral challenges that present themselves in the situations of children undergoing genomic sequencing for clarifying a DD. |
| first_indexed | 2024-03-11T11:01:13Z |
| format | Article |
| id | doaj.art-843f7c6154354ed3bfe5c559a259431c |
| institution | Directory Open Access Journal |
| issn | 1472-6939 |
| language | English |
| last_indexed | 2024-03-11T11:01:13Z |
| publishDate | 2023-11-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Ethics |
| spelling | doaj.art-843f7c6154354ed3bfe5c559a259431c2023-11-12T12:29:24ZengBMCBMC Medical Ethics1472-69392023-11-0124111010.1186/s12910-023-00977-yUncertain futures and unsolicited findings in pediatric genomic sequencing: guidelines for return of results in cases of developmental delayCandice Cornelis0Wybo Dondorp1Ineke Bolt2Guido de Wert3Marieke van Summeren4Eva Brilstra5Nine Knoers6Annelien L. Bredenoord7Department of Genetics, University Medical Center UtrechtDepartment of Health, Ethics & Society, Maastricht UniversityDepartment of Medical Ethics, Philosophy and History of Medicine, Erasmus Medical CenterDepartment of Health, Ethics & Society, Maastricht UniversityDepartment of General Pediatrics, University Medical Center UtrechtDepartment of Genetics, University Medical Center UtrechtDepartment of Genetics, University Medical Center UtrechtJulius Center, Department of Medical Humanities, University Medical Center UtrechtAbstract Background Massively parallel sequencing techniques, such as whole exome sequencing (WES) and whole genome sequencing (WGS), may reveal unsolicited findings (UFs) unrelated to the diagnostic aim. Such techniques are frequently used for diagnostic purposes in pediatric cases of developmental delay (DD). Yet policy guidelines for informed consent and return of UFs are not well equipped to address specific moral challenges that may arise in these children’s situations. Discussion In previous empirical studies conducted by our research group, we found that it is sometimes uncertain how children with a DD will develop and whether they could come to possess capacities for autonomous decision-making in the future. Parents sometimes felt this brought them into a Catch-22 like situation when confronted with choices about UFs before undergoing WES in trio-analysis (both the parents’ and child’s DNA are sequenced). An important reason for choosing to consent to WES was to gain more insight into how their child might develop. However, to make responsible choices about receiving or declining knowledge of UFs, some idea of their child’s future development of autonomous capacities is needed. This undesirable Catch-22 situation was created by the specific policy configuration in which parents were required to make choices about UFs before being sequencing (trio-analysis). We argue that this finding is relevant for reconfiguring current policies for return of UFs for WES/WGS and propose guidelines that encompass two features. First, the informed consent process ought to be staged. Second, differing guidelines are required for withholding/disclosing a UF in cases of DD appropriate to the level of confidence there is about the child’s future developmental of autonomous capacities. Conclusion When combined with a dynamic consent procedure, these two features of our guidelines could help overcome significant moral challenges that present themselves in the situations of children undergoing genomic sequencing for clarifying a DD.https://doi.org/10.1186/s12910-023-00977-yUnsolicited findingsGenomic sequencingChildrenReturn of resultsFuture autonomy |
| spellingShingle | Candice Cornelis Wybo Dondorp Ineke Bolt Guido de Wert Marieke van Summeren Eva Brilstra Nine Knoers Annelien L. Bredenoord Uncertain futures and unsolicited findings in pediatric genomic sequencing: guidelines for return of results in cases of developmental delay BMC Medical Ethics Unsolicited findings Genomic sequencing Children Return of results Future autonomy |
| title | Uncertain futures and unsolicited findings in pediatric genomic sequencing: guidelines for return of results in cases of developmental delay |
| title_full | Uncertain futures and unsolicited findings in pediatric genomic sequencing: guidelines for return of results in cases of developmental delay |
| title_fullStr | Uncertain futures and unsolicited findings in pediatric genomic sequencing: guidelines for return of results in cases of developmental delay |
| title_full_unstemmed | Uncertain futures and unsolicited findings in pediatric genomic sequencing: guidelines for return of results in cases of developmental delay |
| title_short | Uncertain futures and unsolicited findings in pediatric genomic sequencing: guidelines for return of results in cases of developmental delay |
| title_sort | uncertain futures and unsolicited findings in pediatric genomic sequencing guidelines for return of results in cases of developmental delay |
| topic | Unsolicited findings Genomic sequencing Children Return of results Future autonomy |
| url | https://doi.org/10.1186/s12910-023-00977-y |
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