The Teratology Society was recently asked to endorse a White Paper on the Study of Birth Defects. The purpose of the White Paper is to emphasize the need for a birth defect genomics initiative, the challenges to overcome and a pathway to solutions. The Paper concludes that to understand birth defects and make significant progress will require a trans-NIH effort involving interdisciplinary teams including clinicians, geneticists, genomicists, epidemiologists, biostatisticians, basic cellular and developmental biologists and funding opportunity announcements to support research.
As a Society, we have long understood and encouraged the ‘bench to bedside’ approach for understanding and ultimately treating and preventing birth defects. The White Paper was reviewed by the Science Committee who recommended to Council that the Teratology Society endorse the White Paper, and at its mid-year meeting, the Teratology Society Council voted to endorse the White Paper.
Authors of the White Paper were Mustafa K. Khokha, MD, Yale University School of Medicine, John Wallingford, PhD, University of Texas, and Laura E. Mitchell, PhD, University of Texas School of Public Health. Other signatories include Presidents of the American Pediatric Society, the Society for Developmental Biology, and Councils of Society for Pediatric Research, and the American Society for Human Genetics, and of course, the Teratology Society.
The Executive Summary of the White Paper on the Study of Birth Defects is below. The full White Paper and signatories list may be found at the following link: http://connection.teratology.org/p/do/sd/sid=688&fid=2076&req=direct
White Paper on the Study of Birth Defects
Birth defects are the leading cause of infant death in the United States. They are also among the top ten causes of death and hospitalization among children of all ages. Despite the devastating impact of birth defects, we understand little of their etiology impeding progress towards treatment and prevention. Moreover, while surgical interventions have improved survival for many children to beyond their first year, our inability to accurately predict, diagnose and treat the common sequelae of birth defects leaves the economic, social and public health burden of birth defects unacceptably high.
An estimated one third of all pediatric hospital beds are occupied by a child with a genetic diagnosis, and emerging genomic sequencing technologies provide an unprecedented opportunity to identify the genetic variants, including those that cause birth defects. It is essential that we leverage these advances to enhance our understanding of birth defects. Such an effort will lead to new avenues for treatment and provide benefits to families, including improved understanding of the cause of a child’s condition and the risks to any future children.
Understanding the genetics of human birth defects presents many challenges, some shared with other pathologies and some unique. This White Paper outlines the need for a birth defect genomics initiative, the challenges to overcome, and suggested solutions. Ultimately, we conclude that understanding birth defects must be a trans-NIH effort and involve the development of a new type of interdisciplinary team comprised of clinicians, geneticists, genomicists, epidemiologists, biostatisticians and basic cellular and developmental biologists working together in all aspects of the enterprise.