Hot Keywords
rare disease orphan drug

Topic: Newborn Screening III- Policy and Ethics

A special issue of Rare Disease and Orphan Drugs Journal

ISSN 2771-2893 (Online)

Submission deadline: 30 Jun 2023

Guest Editor(s)

  • Prof. David A Pearce

    Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, SD, United States.

    Website | E-mail

Special Issue Introduction

Newborn screening (NBS) is a public health measure. By conducting screening tests on newborns, it aims to achieve early diagnosis of severe but treatable genetic diseases that may not have obvious symptoms at the early stage, thereby reducing morbidity and mortality. Different NBS programs have been practiced in many countries since the 1960s. However, access to screening at birth remains unequal in many countries, and many even do have comprehensive newborn screening and follow-up. The International Rare Diseases Research Consortium (IRDiRC), as a global organization, is ideally suitable to present papers on the application of NBS, patient perspectives, and the different approaches adopted around the world. Apparently, NBS is a huge topic, so RDODJ put together three topics and proposed this special issue covering three general areas. Some topics of interest include:
● Real World Applications and Technologies
● Patients Perspectives on NBS
● Policy and Ethics

This special issue will be devoted to policy and ethics on NBS.

NBS includes the collection and delivery of specimens, laboratory testing, re-examination of suspected positive results, diagnosis and treatment, and follow-up. As the first step in the implementation of screening, informed consent is essential in respecting the autonomous rights of infants and their parents. Informed choices and decisions of infants are exercised on their behalf by their parents or guardians. Guidelines from the World Health Organization recognize the importance of prioritizing screening over parental consent, stating that "if early diagnosis and treatment benefit newborns, screening for neonatal diseases should be mandatory and free". Treatment is the ultimate goal of screening, and ignoring treatment after screening will result in a waste of social resources, which is not in line with ethical principles. In addition, the application of orphan drugs, including their commercial development value, market pricing, patient purchasing power, and national public investment interests, should be fully considered. Indeed, given the jurisdictional differences in NBS agreement practice, it is important to explore the rationale behind screening policy decisions to identify areas of commonality and difference. The exclusion of those involved in policy development may reflect a view that they are too far out of touch with the clinic. However, if policy decisions are inconsistent with clinical practice, parents may suffer from inconsistent practices. This special issue will focus on:
1. How do different stakeholders such as patients, providers, and regulators view this?
2. What are the implications of NBS for rare diseases with limited treatment options?
3. How should NBS be overseen or regulated?

Submission Deadline

30 Jun 2023

Submission Information

For Author Instructions, please refer to
For Online Submission, please login at
Submission Deadline: 30 Jun 2023
Contacts: Yuna Ding, Assistant Editor,

Published Articles

© 2016-2022 OAE Publishing Inc., except certain content provided by third parties