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 June 2021.

Special Issue Editors

Dr. Lynn Wein Bush
E-Mail 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
E-Mail Website
Guest Editor
Park Gerald Chair of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, 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 800 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 (3 papers)

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Open AccessCommentary
Expanded Newborn Screening and Genomic Sequencing in Latin America and the Resulting Social Justice and Ethical Considerations
Int. J. Neonatal Screen. 2021, 7(1), 6; https://doi.org/10.3390/ijns7010006 - 21 Jan 2021
Viewed by 493
Abstract
Newborn screening (NBS) has widely been utilized in developed countries as a cost-effective public health strategy that reduces morbidity and mortality. Developing countries, however, are new to the NBS scene and have their own unique challenges, both in instituting the program as well [...] Read more.
Newborn screening (NBS) has widely been utilized in developed countries as a cost-effective public health strategy that reduces morbidity and mortality. Developing countries, however, are new to the NBS scene and have their own unique challenges, both in instituting the program as well as effectively acting on the results. NBS offers numerous ethical issues on a global scale, however, here we argue that there are unique ethical issues surrounding the development and expansion of newborn screening in Latin America given its highly heterogenous population. Once a NBS program is effectively instated, ethical considerations continue when pursuing expansion of screening to include further conditions. While Latin America grapples with the ethics of expanded newborn screening (ENBS), some developed countries discuss utility of genomic sequencing technologies in the newborn population. When the ability to detect further pathology is expanded, one must know what to do with this information. As rare diseases are identified either on ENBS or via genome sequencing, access to treatments for these rare diseases can be a real challenge. If we consider newborn screening as a global initiative, then we need more than a deontology approach to analyze these challenges; we need an approach that considers the unique characteristics of each territory and tremendous heterogeneity that exists prior to the implementation of these programs. As genomic technology advances further in the developed world, while some developing countries still lack even basic newborn screening, there is a further widening of the gap in global health disparities. The question is posed as to who has responsibility for these newborns’ lives on an international level. Without an approach towards newborn screening that accounts for the diverse global population, we believe optimal outcomes for newborns and families across the world will not be achieved. Full article
(This article belongs to the Special Issue Ethical and Psychosocial Aspects of Genomics in the Neonatal Period)
Open AccessCommentary
Ethical Issues Surrounding Newborn Screening
Int. J. Neonatal Screen. 2021, 7(1), 3; https://doi.org/10.3390/ijns7010003 - 09 Jan 2021
Viewed by 799
Abstract
It would be difficult to overestimate the importance of persistent, thoughtful parents and their importance in the development of treatments for their children’s rare disorders. Almost a century ago in Norway, observant parents led a brilliant young physician-scientist to his discovery of the [...] Read more.
It would be difficult to overestimate the importance of persistent, thoughtful parents and their importance in the development of treatments for their children’s rare disorders. Almost a century ago in Norway, observant parents led a brilliant young physician-scientist to his discovery of the underlying cause of their children’s profound developmental delay—i.e., phenylketonuria, or PKU. Decades later, in a recovering war-ravaged Britain, an equally persistent mother pressed the scientists at Birmingham Children’s Hospital to find a way to treat her seriously damaged daughter, Sheila, who suffered from PKU. Living on the financial edge, this mother insisted that Bickel and colleagues develop such a diet, and she volunteered Sheila to be the patient in the trial. The scientists concluded that the low phenylalanine diet helped but needed to be started very early—so, newborn screening was born to permit the implementation of this. Many steps brought us to where we are today, but these courageous parents made it all begin. Full article
(This article belongs to the Special Issue Ethical and Psychosocial Aspects of Genomics in the Neonatal Period)
Open AccessCommentary
Ethical and Psychosocial Implications of Genomic Newborn Screening
Int. J. Neonatal Screen. 2021, 7(1), 2; https://doi.org/10.3390/ijns7010002 - 09 Jan 2021
Viewed by 799
Abstract
The potential for genomic screening of the newborn, specifically adding genomic screening to current newborn screening (NBS), raises very significant ethical issues. Regardless of whether NBS of this type would include entire genomes or only the coding region of the genome (exome screening) [...] Read more.
The potential for genomic screening of the newborn, specifically adding genomic screening to current newborn screening (NBS), raises very significant ethical issues. Regardless of whether NBS of this type would include entire genomes or only the coding region of the genome (exome screening) or even sequencing specific genes, the ethical issues raised would be enormous. These issues include the limitations of bioinformatic interpretation of identified variants in terms of pathogenicity and accurate prognosis, the potential for substantial uncertainty about appropriate diagnosis, therapy, and follow-up, the possibility of much anxiety among providers and parents, the potential for unnecessary treatment and “medicalizing” normal children, the possibility of adding large medical costs for otherwise unnecessary follow-up and testing, the potential for negatively impacting medical and life insurance, and the almost impossible task of obtaining truly-informed consent. Moreover, the potentially-negative consequences of adding genomic sequencing to NBS might jeopardize all of NBS which has been and continues to be so beneficial for thousands of children and their families throughout the world. Full article
(This article belongs to the Special Issue Ethical and Psychosocial Aspects of Genomics in the Neonatal Period)
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