White paper on the study of birth defects
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Mustafa K Khokha1, Laura E Mitchell2, John B Wallingford3
1Program in Vertebrate Developmental Biology, Departments of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT.
Insights
Birth defects are a major cause of infant death. A new genomics initiative is needed to understand their genetic causes, enabling better treatments and prevention strategies for affected children.
Area of Science:
- Genetics
- Developmental Biology
- Public Health
Background:
- Birth defects are the leading cause of infant mortality and a significant burden on pediatric healthcare.
- Current understanding of birth defect etiology is limited, hindering effective treatment and prevention.
- Genomic sequencing technologies offer a powerful opportunity to identify genetic causes of birth defects.
Purpose of the Study:
- To outline the necessity for a birth defect genomics initiative.
- To identify challenges and propose solutions for understanding birth defect genetics.
- To advocate for a collaborative, trans-NIH approach.
Main Methods:
- Review of current challenges in birth defect research.
- Proposal for a new interdisciplinary research model.
- Leveraging advances in genomic sequencing technologies.
Main Results:
- Genomic approaches can significantly advance the understanding of birth defect etiology.
- Identifying genetic variants is crucial for diagnosis, prediction, and treatment.
- A coordinated, multidisciplinary effort is essential for progress.
Conclusions:
- A dedicated birth defect genomics initiative is critical.
- Interdisciplinary collaboration among clinicians, geneticists, epidemiologists, and biologists is required.
- Understanding the genetic basis of birth defects will improve patient outcomes and reduce public health burdens.
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.