The Effect of BabySeq on Pediatric and Genomic Research—More Than Baby Steps

Tarini, Beth A.

doi:10.1001/jamapediatrics.2021.2826

Cited by 3 publications

(2 citation statements)

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“…Despite its potential, nGS raises both ethical concerns and implementation challenges that would need to be addressed before the integration of GS into existing NBS programs could be seriously considered ( Pereira et al, 2021 ; Tarini 2021 ). In order to define and understand all relevant features of implementation, policy makers must consider input from many stakeholders, including parents.…”

Section: Introductionmentioning

confidence: 99%

Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study

et al. 2022

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Introduction: With increasing utility and decreasing cost of genomic sequencing, augmentation of standard newborn screening (NBS) programs with newborn genomic sequencing (nGS) has been proposed. Before nGS can be integrated into newborn screening, parents’ perspectives must be better understood.Objective: Using data from surveys administered to parents of healthy newborns who were enrolled in the BabySeq Project, a randomized clinical trial of nGS alongside NBS, this paper reports parents’ attitudes regarding population-based NBS and nGS assessed 3 months after results disclosure.Methods: Parental attitudes regarding whether all newborns should receive, and whether informed consent should be required for, NBS and nGS, as well as whether nGS should be mandated were assessed using 5-point scales from strongly disagree (=1) to strongly agree (=5). Parents’ interest in receiving types of results from nGS was assessed on a 5-point scale from not at all interested (=1) to very interested (=5). Survey responses were analyzed using Fisher’s exact tests, paired t-tests, and repeated measures ANOVA.Results: At 3 months post-disclosure, 248 parents of 174 healthy newborns submitted a survey. Support for every newborn receiving standard NBS (mean 4.67) was higher than that for every newborn receiving nGS (mean 3.60; p < 0.001). Support for required informed consent for NBS (mean 3.44) was lower than that for nGS (mean 4.27, p < 0.001). Parents’ attitudes toward NBS and nGS were not significantly associated with self-reported political orientation. If hypothetically receiving nGS outside of the BabySeq Project, most parents reported being very interested in receiving information on their baby’s risk of developing a disease in childhood that can be prevented, treated, or cured (86.8%) and their risk of developing a disease during adulthood that can be prevented, treated, or cured (84.6%).Discussion: Parents’ opinions are crucial to inform design and delivery of public health programs, as the success of the program hinges on parents’ trust and participation. To accommodate parents’ preferences without affecting the current high participation rates in NBS, an optional add-on consent to nGS in addition to NBS may be a feasible approach. Trial Registration ClinicalTrials.gov Identifier: NCT02422511.

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Section: Introductionmentioning

confidence: 99%

Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study

et al. 2022

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“…The BabySeq Project explored the psychosocial impact of newborn genomic sequencing on families through a randomized clinical trial of return of newborn genomic sequencing results vs. standard NBS results plus a family history report, and found that there were no persistent negative effects on families, even those that received a monogenic disease risk finding (Pereira et al, 2021). However, the recruitment rates for the study were low (concerns about privacy and insurance discrimination as well as the burden of participation were cited as reasons for declining) and skewed toward parents with a higher educational level that were not representative of the general U.S. population (Tarini, 2021). In addition, the team struggled with the return of a result of an adult‐onset‐only condition (a pathogenic BRCA2 variant in a newborn that predisposed adult family members to breast and/or ovarian cancer), which raised issues related to informed consent, the child's best interests vs. those of the extended family, and the potential need for cascade testing of other at‐risk family members (Holm et al, 2019).…”

Section: Genomic Sequencing In Newborns: the Nsight Program Developed...mentioning

confidence: 99%

Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics

Minear

Phillips

Kau

et al. 2022

American J of Med Genetics Pt C

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Newborn screening (NBS) is a successful public health initiative that effectively identifies pre-symptomatic neonates so that treatment can be initiated before the onset of irreversible morbidity and mortality. Legislation passed in 2008 has supported a system of state screening programs, educational resources, and an evidence-based review process to add conditions to a recommended universal newborn screening panel (RUSP). The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, has promoted NBS research to advance legislative goals by supporting research that will uncover fundamental mechanisms of disease, develop treatments for NBS disorders, and promote pilot studies to test implementation of new conditions. NICHD's partnerships with other federal agencies have contributed to activities that support nominations of new conditions to the RUSP. The NIH's Newborn Sequencing In Genomic Medicine and Public Health (NSIGHT) initiative funded research projects that considered how genomic sequencing could be integrated into NBS and its ethical ramifications. Recently, the workshop, "Gene Targeted Therapies: Early Diagnosis and Equitable Delivery," has explored the possibility of expanding NBS to include genetic diagnosis and precision, gene-based therapies. Although hurdles remain to realize such a vision, broad engagement of multiple stakeholders is essential to advance genomic medicine within NBS.

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Prenatal and postnatal genetic testing toward personalized care: The non-invasive perinatal testing

Botos,

Szatmári,

Nagy

2023

Molecular and Cellular Probes

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The Effect of BabySeq on Pediatric and Genomic Research—More Than Baby Steps

Cited by 3 publications

References 10 publications

Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study

Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study

Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics

Prenatal and postnatal genetic testing toward personalized care: The non-invasive perinatal testing

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