Medicina Molecular e Genética

Exome Study in Clinical Diagnosis at a Tertiary Care Hospital in South India

Abstract

Amith Kumar IV

Aim: To understand the genetic disease spectrum in a hospital setting using exome analysis by NGS technology.

Methods: We have applied clinical exome studies in our patient groups who presented for a year from 1^st April 2017 to 31^st March 2018. The data were from all patients from the hospital records irrespective of age and sex from any background who were either referred to or had a direct OPD walk in to the genetic clinic. Those patients who had a suspected family history of a genetic disease were included for testing. The test was applied only in cases if there was a definitive phenotypic evidence of the condition. The patients were included irrespective of a specialty of referral.

Results: Among a total of 171 families who sought clinical consultation, exome analysis were indicated in 33 patients. In that, 25 patients had a molecular positivity for the suspected condition and 8 members had been ruled out of the disease. Genetic counselling was given to all 171 patients and in many cases; an extended family screening and counselling were given. The genotype-based prognostication was added to the phenotype prognostication in these patients for the first-time adding value to the patient care not only in diagnosis but also in making management decisions incorporating the new knowledge.

Conclusion: This study is now our basic framework for genotype-based follow-up in our patient groups and an impetus to practice clinical genomic medicine at a hospital level. This is the first time we have incorporated diagnostic sequencing in South India at a hospital setting.