E-mail ID : info@iamg.in |
Online Submission |
Click Here For Online Submission |
Instructions for authors |
Genetic Clinics |
Editorial board |
Get Our Newsletter |
Subscribe |
Send Your Feedback |
Feedback Form |
About Us |
IAMG |
Abstract
January to March 2020 | Vol. 13 | Issue 1 | 11-12 | |||
Coffee with Genome: Emerging Paradigms in Personalised Medicine | |||
Shagun Aggarwal | |||
Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad | |||
Address for Correspondence Email: shagun.genetics@gmail.com | |||
Abstract French et al. performed trio Whole Genome Sequencing in a cohort of 195 intensively ill children in the neonatal and pediatric intensive care units. A genetic diagnosis was achieved in 21% children, and in 90% of the cases, phenotypic descriptor was a poor predictor of the gene identified. In 65% cases overall, and in 83% neonates, the diagnosis significantly altered clinical management in terms of modification of treatment and care pathways or palliative care decision making. | |||
HTML Full Text | Download PDF |