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White paper on the study of birth defects.
- Source :
-
Birth defects research [Birth Defects Res] 2017 Jan 30; Vol. 109 (2), pp. 180-185. Date of Electronic Publication: 2017 Jan 27. - Publication Year :
- 2017
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Abstract
- Birth defects are the leading cause of infant death in the United States and among the top causes of pediatric death and hospitalization. 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. Birth Defects Research 109:180-185, 2017. © 2017 Wiley Periodicals, Inc.<br /> (© 2017 Wiley Periodicals, Inc.)
- Subjects :
- Child
Congenital Abnormalities diagnosis
Congenital Abnormalities prevention & control
Congenital Abnormalities therapy
Genetic Counseling economics
Genetic Counseling organization & administration
High-Throughput Nucleotide Sequencing economics
Humans
Infant
Interdisciplinary Research education
Intersectoral Collaboration
United States
Congenital Abnormalities genetics
Fund Raising organization & administration
Health Policy legislation & jurisprudence
Interdisciplinary Research economics
Subjects
Details
- Language :
- English
- ISSN :
- 2472-1727
- Volume :
- 109
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Birth defects research
- Publication Type :
- Academic Journal
- Accession number :
- 28398650
- Full Text :
- https://doi.org/10.1002/bdra.23590