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Abstract

January - March 2024 | Vol. 17 | Issue 1 | 09-12
Phenotype First or Genotype First: The Conundrum
Dr Divya Agarwal
1 Apollo Indraprastha Hospitals, New Delhi, India 2 Prime Diagnostics and Prenatal Imaging, Chandigarh, India & MedGenome Labs, Bengaluru, India 3 Bharati Hospital, KEM Hospital, Surya Hospital and Aditya Birla Memorial Hospital, Pune, India 4 Deenanath Mangeshkar Hospital and Research Center, Pune, India
Address for Correspondence Email: dr.divya2512@gmail.com
 
Abstract
Evaluation of patients with suspected genetic disorders as well as gene disease research has predominantly relied on studying the signs and symptoms (phenotyping) of patients or research cohort, followed by doing appropriate genetic tests (genotyping) to diagnose the genetic condition or characterize the causative gene. As the costs of gene sequencing are going down, clinicians and researchers are evaluating the diagnostic yield, cost-benefit ratio, advantages and limitations of this approach versus genotyping all individuals without any phenotypic biases and correlating the genetic results with clinical features as a secondary step. In this article we put forward the debate on the traditional, tried and tested ‘Phenotype first’ approach versus the contrasting new hypothesis of ‘Genotype first’ approach for patient care and genomic research.
 
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