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Abstract

April to June 2020 | Vol. 13 | Issue 2 | 05-10
Exome Sequencing: Knowledge, Attitude, and Perspectives of Non-geneticist Clinicians in India
Meenakshi Lallar, Shubha R Phadke
Department of Medical Genetics, Sanjay Gandhi postgraduate Institute of Medical Sciences, Lucknow, India
Address for Correspondence Email: shubharaophadke@gmail.com
 
Abstract
In India, due to the large population, high prevalence of consanguinity and decreasing trend for infectious and nutritional diseases, genetic diseases account for significant mortality and morbidity. However, trained genetic professionals are very few, hence, non-geneticist clinicians i.e. clinicians without formal training in medical genetics, are often involved in the diagnosis and management of genetic diseases. In recent years, exome sequencing (ES) has become more accessible in clinics due to lower costs and is being promoted for diagnostic and screening purposes. We designed this questionnaire-based study to know about the knowledge and perspectives of non-geneticist clinicians towards exome sequencing. In March 2018, a questionnaire containing 25 questions about prior knowledge, usage of exome sequencing in various settings like diagnostic, predisposition, preconceptional, etc. was filled by one hundred clinicians who did not have prior training in medical genetics. Only half (53%) of these doctors had ever heard of exome sequencing. Though 84% of participants felt that exome sequencing is a useful technique, only 31% felt that they were ready to order the test. This study shows that knowledge about exome sequencing is less and needs to be imparted to doctors, the majority of whom are eager to learn and consider exome sequencing a significant diagnostic technique in their clinical practice.
 
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