The human race has a huge diversity in many features – skin colour, size, intellectual and athletic abilities, to name just a few. This variation has arisen largely due to:
- changes in the DNA determining these features
- changes to and interactions with the environment.
Any change in our genes or DNA is called a
mutation. All genetic variation has arisen from mutations. The different forms of a
gene that arise through mutation are called
alleles.
While we most often associate mutations with genetic diseases, much of the variation has led to a highly complex body that works extremely well in our environment.
Some mutations may change the gene so that it codes for a
protein that works just as well, or maybe even better than, the protein coded for by the original gene.
Unfortunately, however, some gene changes result in the production of a different protein that does not work as efficiently, or in the same manner, as the one usually coded for by that gene. In some cases, no functional protein is produced at all. In such cases, the mutation or gene change may cause a genetic condition or disease, such as
cystic fibrosis or
Huntington's disease.
Approximately 3% of Australian babies may be born with a genetic condition where one or more genes that played an important role have been mutated.
Genetic testing:
Genetic tests look at a person's genetic material:
genes or
DNA. Such tests can compare the
base sequences in sections of DNA, look at the results of a change or
mutation that is present in the DNA, or examine the shape and structure of
chromosomes.
DNA is usually taken from a blood sample, but other body fluids or tissues may be used. The tests may look for predisposition to disease, or confirm a genetic mutation in an individual or family. As well as studying changes to chromosomes or genes, genetic testing also includes biochemical tests for certain proteins that indicate disease-causing gene variations.
Carrier testing can determine if a couple is ‘carrying’ a particular gene mutation for an inherited disorder (such as cystic fibrosis) that they may pass on to their children.
Predictive genetic testing focuses on tests that identify if someone will develop a disease before any symptoms appear. These tests can be useful for early detection, diagnosis, prognosis and treatment (if available).
Genetic testing is also used to identify people with an increased
risk or predisposition of developing a particular condition, such as certain cancers. This information may be useful in helping to prevent, treat or manage the disease, but it also raises many issues for our community.
Newborn screening:
In Australia, all newborn children are screened for several diseases, including:
All or some of the symptoms of these disorders can be prevented, or their severity reduced, if the condition is diagnosed and treated early in life. Newborn screening programs use a blood sample obtained by a heelprick from babies about three days after birth.
These blood samples are stored on a special pre-printed filter paper called a Guthrie card. Different chemicals and proteins are measured in this sample to determine whether the baby may have a particular disease. If these tests indicate that the baby may have a genetic condition such as cystic fibrosis, then their
DNA may be tested to see if they carry a
gene variant causing this.
This provides information to the parents if they are hoping to have more children. Guthrie cards are stored by the laboratory doing the testing. Some people have expressed concerns about how the DNA in the blood of these cards may be used in the future.