Whole Genome Sequencing

Whole genome sequencing is a new test that doctors are starting to use in the care of patients. This whole genome sequencing test at the clinic is designed to determine the entire genetic makeup of an individual by sequencing all of their DNA. Armed with this information, physicians can make diagnoses and better choose treatments for patients. This test is ushering in the era of personalized medicine in which understanding genetic makeup will help physicians provide care.

A primer on genomic sequencing: Cells are the building blocks of our bodies and are specialized based on where they are and what they do. Within each cell, a structure called the nucleus holds information vital to that cell’s growth, development, and function. This information is known as DNA, or genetic code. An individual’s complete genetic code is referred to as a genome.

The basic building blocks of DNA are nucleotides. There are 4 kinds of nucleotides—A, G, T, C.  These are the 4 letters of the genetic code. Genome sequencing is a type of genetic test that allows physicians to sequence, or spell out, each of the 3 billion letters of an individual’s genome.  Certain changes, or variants, in this sequence of letters can have an impact on health, so detecting these variations can be beneficial in the diagnosis and treatment of disease.