Defining the genome:

To understand what genomic testing is, we must first understand what we are testing.

What is the genome?

Our genome is all of our genetic material, our DNA.

Most of us have heard of DNA, but what is it?

DNA is like an instruction book. It contains the instructions for living things to develop, grow, and function. Our DNA is made of sequences of letters called bases (ATGC). Genes are segments of these sequences of bases. Think of them like sections of a string. The order of the bases in these gene segments instructs the body on how to produce the proteins that produce our traits, like our eye or hair colour. Our genes can also influence our health outcomes and likelihood of developing disease.

All of our DNA, including our genes, is split into and stored in 46 chromosomes. 23 of our chromosomes come from our mother and 23 from our father. These 46 chromosomes are our entire genome. A copy of our genome exists in nearly every cell in our body.

What do we test?

99.8% of our genome is identical to every other human, but the remaining 0.2% variation is unique to us. This is what researchers and healthcare professionals are interested in testing.

Genomic testing tests this part of the genome and identifies variations in the sequences that may influence your disease progression. Testing for variations in the genome can help us predict, prevent, diagnose, and treat diseases.