Glossary

glossary-interiorDNA β€“ DNA stands for deoxyribonucleic acid. DNA is a molecule made up of four building blocks, represented by the letters A, T, G and C. These building blocks repeat in a meaningful code. The code is about 3 billion letters long and provides all of the instructions (genes) for how our body works.

Gene – Genes, made of DNA, are the instructions for how our bodies work. We inherit our genes from our parents.

Genetic Variant – A genetic variant is a change or "typo" in the genetic code. The most common type of genetic variant is called a Single Nucleotide Polymorphism, or SNP (pronounced "snip"), in which one "letter" in the DNA is changed to another. Genetic variation is what makes each person unique. For example, you may have a "T" in the gene for eye color whereas other people have a "G" at the same spot in the genetic code. This change may result in blue eyes instead of brown eyes. Some genetic variations, such as this eye color example, have no major health consequences. However, other variants can impact health. For example, genetic variants can contribute to an elevated risk for breast cancer or cause adverse reactions to certain medications.

Personalized Medicine – Personalized medicine is medical care based on specific information about the individual, such as genetic information or family history, rather than general healthcare guidelines applied to everyone in a population. For example, offering early colon cancer screening to individuals with a family history of colon cancer or a specific risk variant is personalized medicine, compared to the standard of offering everyone in the population colon cancer screening at age 50.

Pharmacogenomics – The study of the influence of genetic variants on how well medications work and whether or not a medication may cause toxic side effects. Pharmacogenomics is often abbreviated as PGx.

CLIA Certification – CLIA stands for Clinical Laboratory Improvement Amendments. This federal law ensures the accuracy and reliability of all medical laboratory testing. Although CLIA certification is not required for research laboratories, the CPMC decided to pursue this certification so that results from the CPMC could be returned to participants and physicians and potentially used as an additional tool in medical care.