Genetic testing involves analyzing a person's DNA, chromosomes, or proteins to identify changes (mutations or variants) associated with inherited medical conditions or disease risks.
Key Aspects & Recent Updates:
Purpose:
Diagnostic: Confirming a condition in a person with symptoms (e.g., Cystic Fibrosis).
Predictive/Presymptomatic: Identifying a genetic risk for a disease before symptoms appear (e.g., inherited cancer risk like BRCA1/2).
Carrier Screening: Determining if parents can pass a condition to their children.
Pharmacogenetics: Predicting a patient's response to specific medications.
Types of Tests: Ranging from looking at a single gene or gene panel to comprehensive Whole Exome Sequencing (genes that code for proteins) and Whole Genome Sequencing (WGS) (nearly all of a person's DNA).
Recent Trend/Update:
Rise of Whole Genome Sequencing (WGS): WGS is becoming more affordable and accessible. In a major consumer genomics update, at least one major direct-to-consumer company is now adopting WGS as the standard for its at-home DNA tests, replacing older, less comprehensive methods.
"Google for DNA": New computational tools like MetaGraph are being developed to rapidly search and analyze petabytes of public genetic data, which will accelerate research into pathogens, drug targets, and rare genetic conditions.
Focus on Genetic Counseling: Due to the complexity of results (including "Variants of Uncertain Significance" or VUS), the role of genetic counselors in interpreting results and discussing the emotional/ethical implications remains critical.
Can you please share your contact details