How can genetics affect health
When the genes that instruct the making of proteins have mutations and do not work properly, whole systems in the body can have problems. These upsets can be caused in a number of ways. A new copy of your genes is made in every new cell that your body creates throughout your life.
If those copies have mistakes, this can cause problems. For example, some gene changes can make you more likely to get cancer. Your environment can also directly cause changes to DNA inside your cells. For example, the sun damages DNA in the cells that are exposed to it, and if the damage goes unrepaired, these gene changes will be copied as your body creates new cells. This is not quite right. When we describe genes that cause disease, we are really talking about a gene that has a genetic mutation.
The gene should help create a normal, healthy state, but a mutation of that gene can cause problems. Even when your genes are not copied perfectly, they will usually still function correctly, or at least well enough that you will not notice a problem. Only a small number of mutations cause a genetic disorder. Sometimes, your body can repair the gene to help protect itself from disease. Mutations can sometimes even have a positive effect, such as resistance against disease, although this is rare.
We have already seen that some genes can be copied incorrectly—that is one form of mutation. We can also have different numbers of genes. In general, we all have two copies of each gene. We get one from each parent. In some cases, people are born with one, three, or more copies of a particular gene. It is also possible for the gene to be entirely missing. This type of genetic difference is called a copy number variation CNV. Think of it like having too many people in a small space, trying to do the same job.
Humans have 23 pairs of chromosomes, for a total of Some people have an extra copy of a chromosome , or are missing one. Sometimes a chromosome gets broken, and an extra piece can end up in one cell and be missing from another cell. This is similar to having an extra or missing copy of a gene, but it happens with big groups of genes.
This type of change can cause problems with growth, development, and function of your body systems. All users should seek advice from a qualified healthcare professional for a diagnosis and answers to their medical questions. Skip to navigation Skip to main content Site map Accessibility Contact us. Search this site Search all sites Search. Go to whole of WA Government Search.
Open search bar Open navigation Submit search. Health conditions. Facebook Youtube Twitter. Home Health conditions Genetic conditions. Genetic conditions What is a genetic condition? Examples of genetic conditions include: some cancers cystic fibrosis high cholesterol haemophilia muscular dystrophy birth defects for example, spina bifida or a cleft lip.
What are genes? They determine most of your physical characteristics, including: whether you are male or female blood type eye colour height.
Many health conditions and diseases are also carried in our genes. How your genes affect your health Almost all known conditions have a genetic basis. Social changes, such as women having children later in life, are also associated with: an increased number of pregnancies at risk of genetic conditions and birth defects increased need for pregnancy screening and diagnostic tests.
There are more than 3, conditions caused directly or indirectly by unexpected changes in genes. There are a range of world-class state-of-the-art genetic services offered by accredited health professionals available to Victorians.
These services can help people with or at risk of developing genetic conditions to help make informed decisions about their health care and plan for their future. They often help doctors and other health professionals to diagnose conditions early and can guide treatment in a way that's more tailored to their patient's individual needs. Once a genetic condition is diagnosed, genetic tests can be offered to family members who would like to know their chance of being affected or of being a carrier of that condition.
You might want to access genetic services because a blood relative has been diagnosed with a genetic condition, and you're concerned about your or your children's chance of developing that condition.
You may see a genetic counselor who can provide you with information and support about genetic health conditions, help you explore what tests may be right for you, and help you understand your test results and what they mean for you or your family.
The tests themselves usually involve taking a sample of saliva, blood, or tissue. This is then sent off to a laboratory for analysis. Once analysed, the results of the tests are sent back to your doctor or the genetic Health Service. It's important that your genetic tests are only ordered from accredited labs. Do-it-yourself tests like the ones you find online may not be assessed for quality so you can't be sure your results are accurate. Not all genetic conditions can be tested for, and sometimes tests may not come back with an answer.
But genetics is a science that is rapidly evolving. New advances in technology have greatly improved our understanding of the way inheritance affects health and disease. Carrier screening can tell you whether you and your partner carry a genetic change for the same specific condition, for example cystic fibrosis. If both parents are carriers, they do not have the condition but their children are at higher risk of inheriting that condition. Prenatal screening tests estimate the chance of your baby having a higher risk of being affected by a chromosomal condition such as Down syndrome.
Examples of these tests include non-invasive prenatal testing or NIPT, and first trimester maternal serum screening. Diagnostic testing can identify or rule out a specific genetic condition.