Author: Katlin Annyana De La Rosa Poueriet
About this article
This article discusses the complexity of identifying genetic variants through molecular technologies like sequencing or array-based methods. The process involves protocols, quality controls, and technical expertise. However, identifying a genomic variant is just the beginning; molecular geneticists and clinicians must interpret the findings, considering factors like epidemiology, statistics, and research methodology. Interpretation requires continuous review of available literature, utilizing resources such as variant databases, and understanding the population frequency of the variant, especially in clinical contexts.
It also introduces three clinical cases: Allan-Herndon-Dudley Syndrome, familial hypercholesterolemia, and Pitt-Hopkins Syndrome. These cases demonstrate different approaches and methodologies used in the region for molecular diagnostics. Additionally, an article explores the genetic basis of pain perception, highlighting the role of genetics, epigenetics, and environmental factors in individual pain responses.
The authors emphasizes regional efforts in molecular diagnostics and precision medicine, showcasing the progress made in the field of Genetics and Clinical Genomics. It appreciates the readers’ support and invites them to engage in future academic discussions.
This publication serves as a valuable resource, shedding light on the intricate world of molecular diagnostics and emphasizing the crucial role it plays in advancing healthcare. By understanding the complexities involved in genetic variant identification and interpretation, readers gain profound insights into the future of personalized medicine, making it essential reading for anyone passionate about the forefront of medical science and patient care.