Nearly every cell in the human body, from those in our fingernails to those deep inside the brain, contain genetic material. This genetic material includes operating instructions that influence everything from a personâ€™s hair colour to their susceptibility to disease.
For years, doctors have been able to test specific genes to detect the presence of variants associated with disorders such as cystic fibrosis and sickle cell disease. Scientists can now map out a person's entire genetic code, or genome, by sequencing all 20,000 or so genes.
Sequencing a gene is like reading a book one letter at a time to look for any spelling mistakes. To carry out this book analogy, whole genome sequencing (WGS) is the equivalent of running spellcheck on every volume in a library. We all have the same 20,000 genes, most of us have some spelling mistakes, some causing disease.
To sequence a person's genome, doctors need to collect less than a teaspoon of blood or saliva. The cell membranes are ruptured, allowing the genetic material to be released. Enzymes strip away surrounding proteins to isolate clumps of tiny, whitish strands of DNA. That genetic material is placed in sophisticated machines that "read" each of the 3 billion base pairs that make up a person's genetic code.
Genetic Alliance Australia's "Australian Patients' and Families' Perspectives on Genome Sequencing" project commenced September 2015 out of an expressed need by our members to clarify perceptions of genome sequencing and to better understand the impact on families. The results of this project have now been releasted