Last summer, Natalie did something not many others do – at least not yet. She had her genome sequenced. It started simply, with a blood draw, about one-and-a-half teaspoons. It yielded, after extensive processing and analysis, the entire order of the compounds of acids, sugars and bases, known as nucleotides, that make up her DNA. Billions of these nucleotides, arranged in a sequence unique to Natalie, provided her hereditary blueprint.
For all the information processed, Natalie (not her real name) received a report of only a few pages from Illumina, the company that did the sequencing. But within the report were many nuggets of information that she is using to make important decisions about her health care and personal life.
For example, Natalie, who works on the Anschutz Medical Campus, now knows she has a genetic mutation that increases her risk ofhemochromatosis, a metabolic disorder that causes the body to retain too much iron from the diet. Without treatment to remove the excess iron from the blood, the condition can lead to cirrhosis and liver failure.