Genomic newborn screening: public health policy considerations and recommendations

Abstract

BackgroundThe use of genome-wide (whole genome or exome) sequencing for population-based newborn screening presents an opportunity to detect and treat or prevent many more serious early-onset health conditions than is possible today.MethodsThe Paediatric Task Team of the Global Alliance for Genomics and Health’s Regulatory and Ethics Working Group reviewed current understanding and concerns regarding the use of genomic technologies for population-based newborn screening and developed, by consensus, eight recommendations for clinicians, clinical laboratory scientists, and policy makers.ResultsBefore genome-wide sequencing can be implemented in newborn screening programs, its clinical utility and cost-effectiveness must be demonstrated, and the ability to distinguish disease-causing and benign variants of all genes screened must be established. In addition, each jurisdiction needs to resolve ethical and policy issues regarding the disclosure of incidental or secondary findings to families and ownership, appropriate storage and sharing of genomic data.ConclusionThe best interests of children should be the basis for all decisions regarding the implementation of genomic newborn screening.

A New Era, New Strategies: Education and Communication Strategies to Manage Greater Access to Genomic Information

“…Parents have valid concerns about the possible acquisition and storage of genome sequencing data by state newborn screening programs and about the inclusion of sequencing information in their child’s medical record. 18–20 These concerns could deter parents from accepting offers of sequencing, thereby stymieing research and practice in this area. Policy changes are needed to protect families who need or desire to learn genomic information from privacy violations and discrimination.…”

Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions

“…At the present time, interpretive challenges of sequence data as well as the limited data on clinical usefulness and cost effectiveness make genome-wide population screening applications, especially in newborns, difficult, leading some organizations to recommend against use for now. 49,50 To address some of the challenges, however, 4 investigator groups in the Newborn Sequencing In Genomic medicine and public HealTh (NSIGHT) program are currently exploring the implications, challenges, and opportunities associated with the possible use of genomic sequence information in the newborn period. 51 Groups are also attempting to answer questions about broader sequencing in an adult population and in preconception carrier screening.…”

Genetics and genomic medicine in Argentina

“…Traditionally based on biochemical studies, evolution of NBS has boosted in the genomic era, nowadays being able, in principle, to cover—or detect—hundreds of conditions for which early detection and treatment modify the outcome (Friedman et al., 2017). In Latin America, NBS began in the early 70s with the Cuban experience, quickly followed by Argentina and other countries.…”