Special Issue "Ethical and Psychosocial Aspects of Genomics in the Neonatal Period"

A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).

Deadline for manuscript submissions: 30 September 2020.

Special Issue Editors

Dr. Lynn Wein Bush
Website1 Website2
Guest Editor
PhD MS MA, Department of Pediatrics, Division of Genetics and Genomics, Boston Children’s Hospital and Center for Bioethics, Harvard Medical School, Boston, MA 02115, USA
Interests: bioethics; rare diseases; ethical and psychosocial aspects of genomics; newborn screening; newborn sequencing; prenatal diagnosis and screening; pediatric innovative therapies; fetal therapies; inborn errors of metabolism; neurodevelopmental disorders; pediatric clinical genomics; clinical ethics; research ethics
Dr. Olaf Bodamer
Website
Guest Editor
MD PhD FACMG FAAP, Associate Professor of Pediatrics, Park Gerald Chair of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA
Interests: Kabuki syndrome; lysosomal storage disorders; personalized medicine; newborn screening
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Special Issue Information

Dear Colleagues,

As the application of genomics in the neonatal period accelerates, it is important for the global community to critically examine the ethical and psychosocial implications —potential benefits and potential harms — shaped in large part by the current scientific and resource allocation landscape. Genome-based technologies, ranging from large targeted panel screens to comprehensive whole genome sequencing to innovative therapies, pose contextually nuanced opportunities and challenges, with differing calculus when utilized in a neonatal intensive care unit as compared with a mandated public health screening program. Consideration for the complexities of the decision-making process and counseling are essential whether for ill or healthy neonates, and especially if faced with a high level of variability, uncertainty, or access limitations.

We welcome scholarly submissions with diverse perspectives related to these and other ethical and psychosocial aspects of integrating genomics in the neonatal period. The scope of inquiry for this Special Issue is broad, with substantive empirical research (quantitative, qualitative, or mixed methodologies), reports of developing novel approaches to better evaluate or minimize psychological distress, updated reviews of the literature, and brief commentaries with an ethical analysis amongst those being encouraged.

While not an exhaustive list of topics, suggested themes of interest involving genomics in the NBS and/or NICU setting include the following:

  • International, regional, cultural, and comparative perspectives
  • Newborn population-based for neurological, auditory, or visual conditions not currently screened for, with some not manifesting until later in childhood
  • Implications of secondary and incidental findings
  • Impact of variable phenotypes and uncertain prognosis, including age of onset
  • Uncertain or unknown genotype-phenotype correlation
  • Disclosure of adult-onset conditions
  • Balancing the best interests of the child with the interests and perspectives of the family and society
  • Identifying and disclosing carrier status, including distinctions between true carriers and individuals with variant risk alleles (1 or 2)
  • Financial/reimbursement issues with universal health care systems versus non-government run programs
  • Informed consent issues for public health initiative
  • Identification of risk when the diversity of the population is not yet adequately reflected in the variant databases, including ascertainment bias
  • Criteria decision-point to expand conditions using newborn genome panels
  • Blurring the distinction between health, illness, disability, normalcy, and rarity
  • Diagnostic odyssey
  • Genomic information to eventually shift diagnosis or therapy to the prenatal period
  • Sequencing to inform management, including new genetic therapies

Dr. Lynn Wein Bush
Dr. Olaf Bodamer
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 500 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • neonatal sequencing
  • neonatal genomics
  • newborn sequencing
  • newborn genomics
  • newborn screening
  • incidental findings
  • secondary findings
  • carrier status
  • best interest of the child
  • adult onset
  • uncertainty
  • variable phenotype

Published Papers

This special issue is now open for submission.
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