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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Publications

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: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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