Types of Genetic Testing:
- Diagnostic Testing: Used to diagnose a suspected genetic disorder or confirm a clinical diagnosis based on symptoms.
- Predictive Testing: Assesses an individual’s risk of developing a genetic condition or disease later in life, often in the absence of symptoms.
- Carrier Testing: Identifies individuals who carry a gene mutation associated with a recessive genetic disorder and are at risk of passing the mutation to their offspring.
- Prenatal Testing: Conducted during pregnancy to detect genetic abnormalities or disorders in the fetus.
- Pharmacogenetic Testing: Analyzes genetic variations that affect an individual’s response to medications, helping to guide drug selection and dosing.
- Nutrigenetic Testing: Examines genetic variations that influence an individual’s response to diet and nutrients, offering personalized dietary recommendations.
- Hereditary Cancer Panel: Comprehensive genetic testing panels that analyze multiple genes associated with hereditary cancer syndromes. These panels typically include genes associated with common hereditary cancer syndromes, such as BRCA1 and BRCA2 for hereditary breast and ovarian cancer syndrome, as well as genes associated with Lynch syndrome (hereditary nonpolyposis colorectal cancer) and other hereditary cancer syndromes.
- Single Gene Testing: Targeted testing of specific genes known to be associated with a particular cancer type or syndrome. For example, BRCA1 and BRCA2 testing for hereditary breast and ovarian cancer syndrome, or TP53 testing for Li-Fraumeni syndrome.
- Comprehensive Genetic Testing: Whole exome sequencing (WES) or whole genome sequencing (WGS) may be used for individuals with complex family histories or clinical presentations suggestive of an underlying genetic predisposition to cancer. These comprehensive tests analyze the entire exome (coding regions of genes) or genome (all DNA) to identify genetic variants associated with cancer risk.
- Cancer Risk Assessment: Genetic cancer testing is typically recommended for individuals with a personal or family history suggestive of hereditary cancer syndrome, including: Early-onset cancer (diagnosed at a young age), Multiple primary cancers in the same individual, Bilateral or multifocal cancers, Cancer in multiple close relatives (especially first-degree relatives), Rare cancer types or unusual presentations
Uses of Genetic Testing:
- Disease Risk Assessment: Identifying genetic factors associated with increased susceptibility to certain diseases, such as cancer, cardiovascular disorders, and neurodegenerative conditions.
- Inherited Disorders: Diagnosing genetic disorders caused by mutations in single genes (monogenic disorders) or chromosomal abnormalities (e.g., Down syndrome).
- Family Planning: Informing reproductive decisions, such as prenatal screening, preimplantation genetic diagnosis (PGD), and family planning for individuals at risk of hereditary conditions.
- Precision Medicine: Tailoring medical treatments and interventions based on an individual’s genetic makeup, such as targeted therapies for cancer and personalized drug prescriptions.
- Genetic Counseling: Providing education, support, and guidance to individuals and families about the implications of genetic testing results, inheritance patterns, and available options for medical management and risk reduction.