Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 190, Issue 2, Pages 243-256Publisher
WILEY
DOI: 10.1002/ajmg.c.32005
Keywords
genetic disease; management guidance; molecular diagnosis; newborn screening; orphan drug; rapid whole genome sequencing
Categories
Funding
- Eunice Kennedy Shriver National Institute of Child Health and Human Development
- National Center for Advancing Translational Sciences
- Alexion Pharmaceuticals
- Ultragenyx Pharmaceutical
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This article discusses the urgent need for expanded newborn screening through genomic sequencing and introduces an international cooperative project for implementing newborn genome sequencing. The project aims to address genetic diseases through diagnosis and treatment and accelerate orphan drug development. The authors invite researchers and stakeholders worldwide to participate in the prospective clinical trial of the project.
In this Dispatch from Biotech, we briefly review the urgent need for extensive expansion of newborn screening (NBS) by genomic sequencing, and the reasons why early attempts had limited success. During the next decade transformative developments will continue in society and in the pharmaceutical, biotechnology, informatics, and medical sectors that enable prompt addition of genetic disorders to NBS by rapid whole genome sequencing (rWGS) upon introduction of new therapies that qualify them according to the Wilson and Jungner criteria (Wilson, J. M. G., & Jungner, G., World Health Organization. (1968). Principles and Practice of Screening for Disease. World Health Organization. Retrieved from ). Herein we describe plans, progress, and clinical trial designs for BeginNGS (Newborn Genome Sequencing to end the diagnostic and therapeutic odyssey), a new international, pre-competitive, public-private consortium that proposes to implement a self-learning healthcare delivery system for screening all newborns for over 400 hundred genetic diseases, diagnostic confirmation, implementation of effective treatment, and acceleration of orphan drug development. We invite investigators and stakeholders worldwide to join the consortium in a prospective, multi-center, international trial of the clinical utility and cost effectiveness of BeginNGS.
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