Parents’ decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project

Pereira, Stacey; Hsu, Rebecca L.; Uveges, Melissa Kurtz; Agrawal, Pankaj B.; Beggs, Alan H.; Betting, Wendi N.; Ceyhan‐Birsoy, Ozge; Christensen, Kurt D.; Dukhovny, Dmitry; Fayer, Shawn; Frankel, Leslie A.; Genetti, Casie A.; Graham, Chet; Green, Robert C.; Gutierrez, Amanda M.; Harden, Maegan; Holm, Ingrid A.; Krier, Joel B.; Lebo, Matthew; Lee, Kaitlyn B.; Levy, Harvey L.; Lu, Xingquan; Machini, Kalotina; McGuire, Amy L.; Murry, Jaclyn B.; Naik, Medha; Dolphyn, Tiffany T. Nguyen; Parad, Richard B.; Peoples, Hayley A.; Petersen, Devan; Ramamurthy, Uma; Ramanathan, Vivek; Rehm, Heidi L.; Roberts, Amy; Robinson, Jill O.; Roumiantsev, Sergei; Schwartz, Talia S.; Smith, Hadley Stevens; Truong, Tina; VanNoy, Grace E.; Waisbren, Susan E.; Yu, Timothy W.; Zawatsky, Carrie L. Blout; Zettler, Bethany

doi:10.1016/j.gim.2022.100002

Cited by 11 publications

(3 citation statements)

References 35 publications

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“…Since this disclosure could lead to risk-reducing and potentially life-saving preventative treatment in parents and other family members, it has been argued that there is a benefit to the child that their parents be informed of this genetic information as to maintain their health and ability to care for their child [36,37]. Indeed, empirical research supports that parents consider the potential benefit to the family when receiving secondary [38] and/or adultonset findings [39], though other studies have found that some parents reject the relational aspect of the child's best interests [40]. Likewise, some have argued that the potential family benefit of analyzing and disclosing adult-onset findings is not significant enough to outweigh the child's right to an open future and their autonomy to decide whether they would like to know their risk of disease as an adult [35].…”

Section: Discussionmentioning

confidence: 99%

Framing the Family: A Qualitative Exploration of Factors That Shape Family-Level Experience of Pediatric Genomic Sequencing

et al. 2023

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Families of children with rare and undiagnosed conditions face many psychosocial and logistical challenges that may affect their approach to decisions about their child’s care and their family’s well-being. As genomic sequencing (GS) is increasingly incorporated into pediatric diagnostic workups, assessing the family-level characteristics that shape the experience of pediatric GS is crucial to understanding how families approach decision-making about the test and how they incorporate the results into their family life. We conducted semi-structured interviews with parents and other primary caregivers of pediatric patients who were evaluated for a suspected genetic condition and who were recommended to have GS (n = 20) or who had recently completed GS (n = 21). We analyzed qualitative data using multiple rounds of thematic analysis. We organized our thematic findings into three domains of factors that influence the family-level experience of GS: (1) family structure and dynamics; (2) parental identity, relationships, and philosophies; and (3) social and cultural differences. Participants conceptualized their child’s family in various ways, ranging from nuclear biological family to support networks made up of friends and communities. Our findings can inform the design and interpretation of preference research to advance family-level value assessment of GS as well as genetic counseling for families.

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Section: Discussionmentioning

confidence: 99%

Framing the Family: A Qualitative Exploration of Factors That Shape Family-Level Experience of Pediatric Genomic Sequencing

et al. 2023

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“…Some work has been conducted using a variety of methodologies exploring parents’ and the public’s preferences and perspectives on gNBS in the US [ 20 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 ], Canada [ 42 , 43 , 44 ], the UK [ 45 , 46 ] and New Zealand [ 47 ]. Surveys have been conducted with Australian parents exploring their views [ 48 , 49 ]; however, to date, no in-depth qualitative work has been conducted with members of the Australian public.…”

Section: Introductionmentioning

confidence: 99%

Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation

Lynch,

Best,

Gaff

et al. 2024

IJNS

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Recent dramatic reductions in the timeframe in which genomic sequencing can deliver results means its application in time-sensitive screening programs such as newborn screening (NBS) is becoming a reality. As genomic NBS (gNBS) programs are developed around the world, there is an increasing need to address the ethical and social issues that such initiatives raise. This study therefore aimed to explore the Australian public’s perspectives and values regarding key gNBS characteristics and preferences for service delivery. We recruited English-speaking members of the Australian public over 18 years of age via social media; 75 people aged 23–72 participated in 1 of 15 focus groups. Participants were generally supportive of introducing genomic sequencing into newborn screening, with several stating that the adoption of such revolutionary and beneficial technology was a moral obligation. Participants consistently highlighted receiving an early diagnosis as the leading benefit, which was frequently linked to the potential for early treatment and intervention, or access to other forms of assistance, such as peer support. Informing parents about the test during pregnancy was considered important. This study provides insights into the Australian public’s views and preferences to inform the delivery of a gNBS program in the Australian context.

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“…Yet with gNBS, the potential to screen for more conditions means that these parameters are being questioned. Some work has been conducted using a variety of methodologies exploring parents' and the public's preferences and perspectives on gNBS in the US [21,[24][25][26][27][28][29][30][31][32][33][34][35][36], Canada [37][38][39], the UK [40,41] and New Zealand [42]. Surveys have been conducted with Australian parents exploring their views [43,44], however to date no in-depth qualitative work has been conducted with members of the Australian public.…”

Section: Introductionmentioning

confidence: 99%

Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits and Preferences for Implementation

Lynch,

Best,

Gaff

et al. 2023

Preprint

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Recent dramatic reductions in the timeframe in which genomic sequencing can deliver results means its application in time-sensitive screening programs such as newborn screening (NBS) is becoming a reality. As genomic NBS (gNBS) programs are developed around the world, there is an increasing need to address the ethical and social issues that such initiatives raise. This study therefore aimed to explore the Australian public’s perspectives and values regarding key gNBS characteristics and preferences for service delivery. We recruited English-speaking members of the Australian public over 18 years of age via social media; 75 people aged 23-72 participated in one of 15 focus groups. Participants were generally supportive of introducing genomic sequencing into newborn screening, with several stating that adoption of such revolutionary and beneficial technology was a moral obligation. Participants consistently highlighted receiving an early diagnosis as the leading benefit, which was frequently linked to the potential for early treatment and intervention, or access to other forms of assistance, such as peer support. Informing parents about the test during pregnancy was considered important. This study provides insights into the Australian public’s views and preferences to inform the delivery of a gNBS program in the Australian context.

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Parents’ decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project

Cited by 11 publications

References 35 publications

Framing the Family: A Qualitative Exploration of Factors That Shape Family-Level Experience of Pediatric Genomic Sequencing

Framing the Family: A Qualitative Exploration of Factors That Shape Family-Level Experience of Pediatric Genomic Sequencing

Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation

Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits and Preferences for Implementation

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