Nearly every cell in the human body - from the ones in the fingernails to the ones deep inside the brainâ€”contains a complete set of DNA, the operating instructions that influence everything from a personâ€™s hair color to susceptibility to disease.
For years, doctors have been able to test specific genes to detect the presence of mutations associated with disorders such as cystic fibrosis and sickle cell disease. But only recently have scientists been able to map out a person's entire genetic code, or genome, by sequencing all 20,000 or so genes in one fell swoop.
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, but we all have some spelling mistakes compared to one another.
To sequence a person's genome, doctors need to collect less than a teaspoon of blood or saliva. Then chemicals are used on this sample to break open the cell membranes and gather the DNA that had been housed inside them. Enzymes strip away surrounding proteins to isolate a clump 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