Interpretation of Genomic Sequence Variations
By: Dr. Madhuri Hegde
Theme: Genomic Data for Precision Medicine
Global perspective on the role of genomics in health care
A Symposium on Prenatal, Perinatal & Neonatal Genetics
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh -226014
Sanjay Gandhi Postgraduate Institute of Medical Sciences
Genomic technologies have thrown up new challenges. Size of data, data processing, data sharing, data privacy, data protection are a few to name. In addition, global efforts to provide the genomic data for public use is still far away from the need, specifically for the Indians. GnomAD, 1000Genomes, ClinVar, HGMD and other databases still have poor representation of our local population. Massive efforts and collaborations are the need of the hour to bridge this gap and gear up the world for precision medicine. Variable response to drugs and genomic architecture of cancers have already indicated where personalized therapeutic approaches are headed. In this context, we aim to bring in experts in the field to discuss how genomic data can be stored, shared and used in an acceptable manner for Indian population.
Indian health care is changing with public funded healthcare and increased funding for rare diseases. Many hospitals have shifted to electronic health records. NGS based testing for genetic disorders is already incorporated into the clinical practice. With the availability of large amount of genomic and clinical data there is an urgent need of establishing databases and systems for patient care in India. The proposed conference with experts from various countries will provide an opportunity to brainstorm on data storage and its public use with due consideration to autonomy and privacy globally and in India. We anticipate that several collaborations will emerge from this meeting.
11th December 2022
Invasive and non-invasive techniques are providing a lot of information about the babies in the womb. A fetus was considered to be a part of mother and was under the care of the obstetrician. Now, the ultrasonographers, fetal medicine specialists and geneticists are closely involved in the diagnosis and management of the fetus. Most of the fetal disorders have genetic etiologies and genetic diagnosis and counselling are very important components of fetal medicine. Moreover, the transition of fetal care from obstetricians to neonatologists and pediatricians needs to overlap for optimum outcomes.Read More Register for Symposium