Dataset Information

Newborn Sequencing in Genomic Medicine and Public Health.

ABSTRACT: The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genome-scale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice. This article provides an overview of the Newborn Sequencing in Genomic Medicine and Public Health Consortium, which is investigating the application of genome-scale sequencing in newborns for both diagnosis and screening.

SUBMITTER: Berg JS

PROVIDER: S-EPMC5260149 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature

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Newborn Sequencing in Genomic Medicine and Public Health.

Berg Jonathan S JS Agrawal Pankaj B PB Bailey Donald B DB Beggs Alan H AH Brenner Steven E SE Brower Amy M AM Cakici Julie A JA Ceyhan-Birsoy Ozge O Chan Kee K Chen Flavia F Currier Robert J RJ Dukhovny Dmitry D Green Robert C RC Harris-Wai Julie J Holm Ingrid A IA Iglesias Brenda B Joseph Galen G Kingsmore Stephen F SF Koenig Barbara A BA Kwok Pui-Yan PY Lantos John J Leeder Steven J SJ Lewis Megan A MA McGuire Amy L AL Milko Laura V LV Mooney Sean D SD Parad Richard B RB Pereira Stacey S Petrikin Joshua J Powell Bradford C BC Powell Cynthia M CM Puck Jennifer M JM Rehm Heidi L HL Risch Neil N Roche Myra M Shieh Joseph T JT Veeraraghavan Narayanan N Watson Michael S MS Willig Laurel L Yu Timothy W TW Urv Tiina T Wise Anastasia L AL

Pediatrics 20170117 2

The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genome-scale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed bef ...[more]

PMID: 28096516

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Project description: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.

Project description:South Africa (SA) is reforming its health system in preparation for an anticipated national health insurance (NHI) scheme that aims to improve the delivery of affordable, equitable, accessible health care. Public health (PH) language is explicit in the policy and skilled PH professionals would be expected to play a key role in its implementation. In South Africa, training of doctors as Public Health Medicine (PHM) specialists is funded by the state, yet there are few positions for PHM specialists in the health services. We explored stakeholders' perspectives about this absence, and their views on PHM specialist' roles and contribution in an era of health reform. A qualitative study was conducted in 2012-13, using in-depth interviews with thematic analysis, which elicited perspectives of 31 key stakeholders nationally reflecting diverse employer and institutional backgrounds. While some were surprised by the absence of PH professionals in SA's health system, most agreed the reason was due to factors internal to the profession, such as its low profile and uncertain identity. External factors such as legislation and political preferences for health managers impacted on the employment of PH professionals. However, given the competencies required to implement an ambitious restructuring of the health sector, all believed that PH and PHM personnel were vital. In view of the health system's dominant curative orientation, embedding PH personnel in the services should ensure that health protection, promotion and prevention strategies will inform health priorities. This study, the first known from a low and middle-income country, contributes to the international literature about the identity and roles of PHM physicians, who are versatile professionals with broad skills-sets. In SA, through consultation with health sector employers about potential roles, curricular redesign and trainee recruitment, PHM can graduate fit-for-purpose specialists to work in a range of institutions to address health system reform.

Dataset Information

Newborn Sequencing in Genomic Medicine and Public Health.

Publications

Newborn Sequencing in Genomic Medicine and Public Health.

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