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Genomics in Pediatric Surgery


Devendra Gupta

Professor and Head, Dept. of Pediatric Surgery

All India Institute of Medical Sciences, New Delhi, India


Neetu Singh

Advanced Molecular Science Research Centre

King George’s Medical University, Lucknow, India


Approximately 2% babies are born with major and minor malformations resulting in significant morbidity and mortality. Despite all advances, we do not know the etiologies of even 10% of these. Hereditary, consanguinity, genetic defects, pesticides, air and water pollution, food adulteration and contamination are becoming responsible for some of the congenital defects and cancers seen in the pediatric age group.

Like other diseases, genes and genomics are also related to the babies and their health. The genetic profiling will help to identify, diagnose, treat and predict congenital disorders or birth defects. Under, a medical condition that suspects genetic origin or with a strong family history of genetic disease can be screened for rare variants.

Through recent development of sequencing, technologies and array-based platforms, we can identify both copy number variants (CNVs) as well as single nucleotide variants that may be most likely the cause and heterogeneity of the disease. The CNVs are more common in normal individuals; hence, challenge is to identify functional significance of the rare variants with disease. Although, continuously developing public-databases catalogues genetic abnormalities with phenotypic data are available but they are not comprehensive in relation to functional significance, particularly for rare variants/smaller genomic lesions.

However, rapid increase of large datasets associated with functional significance through high end technologies will provide evidence based guide to clinicians involved in diagnosis, management and care of these patients and their families.

Babies with birth defect need special attentionso that the birth defects could be studied in detail and help the physicians and the future parents.

At present, unfortunately, there are only a few centers in the world that offer research opportunities in the field of genomics along the sides of clinical service and teaching. The scope is immense and interesting. Need is to create awareness on the role of genomics identifying the specific abnormalities and its importance and implications in diagnosis, counseling and prevention.