Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing

Timmins, George Thomas; Wynn, Julia; Saami, Akilan M.; Espinal, Aileen; Chung, Wendy K.

doi:10.1159/000526382

Cited by 7 publications

(9 citation statements)

References 37 publications

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“…Because each clinical area included a different number of genes, we also tabulated the percentage of gene-disease pairs per area endorsed by experts. The highest percentage of genes that reached 80% or higher concordance were related to metabolic disorders (25…”

Section: Expert Concordance For Gene-disease Associationsmentioning

confidence: 99%

“…Lack of data regarding downstream medical, psychosocial, and economic effects of NBSeq, however, has contributed to concerns regarding its feasibility, cost, clinical utility, and associations with patient autonomy, privacy, and distress. 6,8,[13][14][15][16][17][18][19][20][21] Studies have indicated that a high proportion of individuals, particularly parents, are interested in expanding the number of disorders included in newborn screening, [22][23][24][25] including through NBSeq. [26][27][28][29][30] Surveys of pediatricians 31 and genetic counselors 32 have revealed more nuanced perspectives but still largely positive attitudes toward NBSeq.…”

Section: Introductionmentioning

confidence: 99%

“…Studies have indicated that a high proportion of individuals, particularly parents, are interested in expanding the number of disorders included in newborn screening, 22 , 23 , 24 , 25 including through NBSeq. 26 , 27 , 28 , 29 , 30 Surveys of pediatricians 31 and genetic counselors 32 have revealed more nuanced perspectives but still largely positive attitudes toward NBSeq.…”

Section: Introductionmentioning

confidence: 99%

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Perspectives of Rare Disease Experts on Newborn Genome Sequencing

et al. 2023

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ImportanceNewborn genome sequencing (NBSeq) can detect infants at risk for treatable disorders currently undetected by conventional newborn screening. Despite broad stakeholder support for NBSeq, the perspectives of rare disease experts regarding which diseases should be screened have not been ascertained.ObjectiveTo query rare disease experts about their perspectives on NBSeq and which gene-disease pairs they consider appropriate to evaluate in apparently healthy newborns.Design, Setting, and ParticipantsThis survey study, designed between November 2, 2021, and February 11, 2022, assessed experts’ perspectives on 6 statements related to NBSeq. Experts were also asked to indicate whether they would recommend including each of 649 gene-disease pairs associated with potentially treatable conditions in NBSeq. The survey was administered between February 11 and September 23, 2022, to 386 experts, including all 144 directors of accredited medical and laboratory genetics training programs in the US.ExposuresExpert perspectives on newborn screening using genome sequencing.Main Outcomes and MeasuresThe proportion of experts indicating agreement or disagreement with each survey statement and those who selected inclusion of each gene-disease pair were tabulated. Exploratory analyses of responses by gender and age were conducted using t and χ2 tests.ResultsOf 386 experts invited, 238 (61.7%) responded (mean [SD] age, 52.6 [12.8] years [range 27-93 years]; 126 [52.9%] women and 112 [47.1%] men). Among the experts who responded, 161 (87.9%) agreed that NBSeq for monogenic treatable disorders should be made available to all newborns; 107 (58.5%) agreed that NBSeq should include genes associated with treatable disorders, even if those conditions were low penetrance; 68 (37.2%) agreed that actionable adult-onset conditions should be sequenced in newborns to facilitate cascade testing in parents, and 51 (27.9%) agreed that NBSeq should include screening for conditions with no established therapies or management guidelines. The following 25 genes were recommended by 85% or more of the experts: OTC, G6PC, SLC37A4, CYP11B1, ARSB, F8, F9, SLC2A1, CYP17A1, RB1, IDS, GUSB, DMD, GLUD1, CYP11A1, GALNS, CPS1, PLPBP, ALDH7A1, SLC26A3, SLC25A15, SMPD1, GATM, SLC7A7, and NAGS. Including these, 42 gene-disease pairs were endorsed by at least 80% of experts, and 432 genes were endorsed by at least 50% of experts.Conclusions and RelevanceIn this survey study, rare disease experts broadly supported NBSeq for treatable conditions and demonstrated substantial concordance regarding the inclusion of a specific subset of genes in NBSeq.

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Section: Expert Concordance For Gene-disease Associationsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Perspectives of Rare Disease Experts on Newborn Genome Sequencing

et al. 2023

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“…At least 34 groups worldwide are exploring genomic sequencing as a way to expand newborn screening and identify children at high risk for hundreds of actionable genetic disorders. 1 Stakeholders, including diverse groups of parents, 2,3 rare disease specialists, 4 primary care physicians, 5 genetic counselors, 4,6 and the public 7 support the implementation of genomic newborn screening for at least some genetic disorders. However, many clinical, ethical, and technological barriers to implementation remain.…”

Section: Introductionmentioning

confidence: 99%

Data-driven prioritization of genetic disorders for global genomic newborn screening programs

Minten,

Gold,

Bick

et al. 2024

Preprint

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Over 30 international research studies and commercial laboratories are exploring the use of genomic sequencing to screen apparently healthy newborns for genetic disorders. These programs have individualized processes for determining which genes and genetic disorders are queried and reported in newborns. We compared lists of genes from 26 research and commercial newborn screening programs and found substantial heterogeneity among the genes included. A total of 1,750 genes were included in at least one newborn genome sequencing program, but only 74 genes were included on >80% of gene lists, 16 of which are not associated with conditions on the Recommended Uniform Screening Panel. We used a linear regression model to explore factors related to the inclusion of individual genes across programs, finding that a high evidence base as well as treatment efficacy were two of the most important factors for inclusion. We applied a machine learning model to predict how suitable a gene is for newborn sequencing. As knowledge about and treatments for genetic disorders expand, this model provides a dynamic tool to reassess genes for newborn screening implementation. This study highlights the complex landscape of gene list curation among genomic newborn screening programs and proposes an empirical path forward for determining the genes and disorders of highest priority for newborn screening programs.

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“…Whilst some of these issues have been explored in health systems with large private health insurance funding models, namely in North America (25)(26)(27), there is paucity of research on stakeholder perspectives of genomic NBS within health domains that are predominantly publicly funded, cover wide geographical expanses characteristic of the Australasian region, and encompass socio-demographically heterogenous (including Indigenous) populations. In Australia, while there has been a degree of systematic synthesis of information on genomic NBS from the perspective of the lay public (26,28), and from rare disease medical experts (29,30), the attitudes of parents of children with heterogenous genetic conditions (diagnosed with and without NBS) have not been analysed, nor have the unique challenges faced by policy makers when considering whether and how to incorporate genomics into NBS (31).…”

Section: Introductionmentioning

confidence: 99%

Genetic newborn screening stakeholder perspectives

Kariyawasam,

Scarfe,

Meagher

et al. 2024

Preprint

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Background Newborn bloodspot screening is a well-established population health initiative that detects serious, childhood-onset, treatable conditions to improve health outcomes. With genomic technologies advancing rapidly, many countries are actively discussing the introduction of genomic assays into newborn screening programs. While adding genomic testing to Australia’s newborn screening program could improve outcomes for infants and families, it must be considered against potential harms, ethical, legal, equity and social implications, and economic and health system impacts. We must ask not only ‘can’ we use genomics to screen newborns?’ but ‘should we’?’ and ‘how much should health systems invest in genomic newborn screening?’. Methods This study will use qualitative methods to explore understanding, priorities, concerns and expectations of genomic newborn screening among parents/carers, health professionals/scientists, and health policy makers across Australia. In-depth, semi-structured interviews will be held with 30-40 parents/carers recruited via hospital and community settings, 15-20 health professionals/scientists, and 10-15 health policy makers. Data will be analysed using inductive content analysis. The Sydney Children’s Hospital Network Human Research Ethics Committee approved this study protocol [2023/ETH02371]. The Standards for Reporting Qualitative Research will guide study planning, conduct and reporting. Discussion Few studies have engaged a diverse range of stakeholders to explore the implications of genomics in newborn screening in a culturally and genetically diverse population, nor in a health system underpinned by universal health care. As the first study within a multi-part research program, findings will be used to generate new knowledge on the risks and benefits and importance of ethical, legal, social and equity implications of genomic newborn screening from the perspective of key stakeholders. As such it will be the foundation on which child and family centered criteria can be developed to inform health technology assessments and drive efficient and effective policy decision-making on the implementation of genomics in newborn screening.

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Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing

Cited by 7 publications

References 37 publications

Perspectives of Rare Disease Experts on Newborn Genome Sequencing

Perspectives of Rare Disease Experts on Newborn Genome Sequencing

Data-driven prioritization of genetic disorders for global genomic newborn screening programs

Genetic newborn screening stakeholder perspectives

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