Education Center
Explore our comprehensive educational resources to learn about genetic testing, hereditary conditions, and personalized medicine. All content is verified against authoritative sources including GeneReviews.
Learning Paths
Understanding Genetic Testing
Learn the basics of genetic testing, what it can tell you, and how to interpret results.
Cancer Genetics
Understand hereditary cancer syndromes and risk management options.
Reproductive Genetics
Learn about carrier screening and family planning options.
Pharmacogenomics
Discover how your genes affect drug responses.
Quick Topics
Key Concepts
Autosomal Dominant
Only one copy of the altered gene is needed to cause the condition. An affected parent has a 50% chance of passing it to each child.
Autosomal Recessive
Two copies of the altered gene are needed. Carriers (one copy) are typically unaffected. If both parents are carriers, each child has a 25% chance of being affected.
X-Linked
The gene is on the X chromosome. Males (XY) are typically more affected than females (XX), who may be carriers.
Multifactorial/Polygenic
Multiple genes and environmental factors contribute. Risk is expressed as a polygenic risk score rather than a single gene variant.
A polygenic risk score combines information from many genetic variants to estimate your genetic predisposition to a condition. Unlike single-gene disorders, PRS represents a spectrum of risk based on common variants.
- PRS is not a diagnosis - it estimates genetic predisposition
- Environmental and lifestyle factors also influence disease risk
- High PRS doesn't mean you will develop the condition
- Low PRS doesn't mean you're immune to the condition
Pharmacogenomics studies how your genes affect your response to medications. Genetic variants in drug-metabolizing enzymes can cause you to be a "poor metabolizer" (drug builds up, increased side effects) or "ultrarapid metabolizer" (drug cleared too fast, reduced effectiveness).
Explore Drug-Gene InteractionsCarrier screening identifies individuals who carry one copy of a gene mutation for a recessive condition. Carriers are typically healthy but can pass the mutation to their children. If both parents are carriers, each child has a 25% chance of being affected.
Common conditions screened include cystic fibrosis, sickle cell disease, Tay-Sachs disease, and spinal muscular atrophy.
Genetic Terms Glossary
One of two or more versions of a gene
Person with one copy of a recessive mutation
Your genetic makeup at a specific location
Observable characteristics resulting from genotype
A difference in DNA sequence from reference
A variant that causes disease
Authoritative Resources
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