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Abstract

April to June 2020 | Vol. 13 | Issue 2 | 11-12
Secondary Findings in Genomic Testing
Vivekanand Bhat, Divya Udyawar, Katta M Girisha, Dhanya Lakshmi N
Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education, Manipal, India
Address for Correspondence Email: dhanya.lakshmi@manipal.edu
 
Abstract
Next generation sequencing (NGS) has changed the landscape of genetic diagnoses with shorter time to diagnosis, discovery of novel disease-causing variants/genes and newer insights into molecular mechanisms of disease. But one of the challenges with this powerful technology is the discovery of secondary findings in addition to primary results (which are pathogenic variants relevant to the disease, for which the test is ordered). Secondary findings (SF) (previously termed ‘incidental findings’) are defined as findings, which are unrelated to the primary purpose of testing, but can be of clinical significance to an individual (Green et al., 2013). These findings are proposed to have a significant effect on an individual’s health outcomes, but its disclosure can pose challenges to the healthcare professionals, patients and their families. This review briefly discusses the current debate on SF in the era of next generation sequencing and explores the benefits and challenges associated with SF. We also discuss the recommendations from professional bodies around the world regarding disclosure of SF.
 
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