When a newborn presents with unexplained symptoms or a complex medical condition that is difficult to diagnose, genetic testing, such as Whole Exome Sequencing (WES), can play a pivotal role in identifying the underlying cause. At the Newborn Care Centre (NBCC) in Rajendra Nagar, Patna, Dr. Shrawan Kumar utilizes advanced genetic testing as part of his diagnostic toolkit to ensure precise and timely treatment for newborns.
Whole Exome Sequencing is a powerful genetic test that analyzes all the protein-coding regions of the genome, known as exons. These regions contain most of the known disease-causing genetic variations. Dr. Kumar recommends WES in cases where standard diagnostic methods fail to provide answers, especially for newborns with rare genetic disorders, developmental delays, or unexplained metabolic abnormalities.
Dr. Kumar’s process begins with a detailed clinical evaluation and discussion with the family to determine if WES is appropriate. Once the test is conducted, he carefully reviews the results, which often include a vast amount of complex genetic data. Dr. Kumar collaborates with genetic counselors and specialists to interpret the findings, identifying specific mutations or variations that could explain the baby’s condition.
Using the insights from the WES report, Dr. Kumar formulates a targeted treatment plan. For some conditions, the genetic information helps confirm a diagnosis, guiding specific medical or surgical interventions. In other cases, it assists in predicting the course of the disease and planning long-term care. Dr. Kumar also uses the findings to counsel families about recurrence risks and potential implications for future pregnancies.
At NBCC, Dr. Shrawan Kumar’s expertise in evaluating WES reports ensures that even the most complex cases receive a clear diagnosis and personalized care. His commitment to leveraging advanced genetic tools underscores his dedication to providing the highest standard of neonatal care.