In collaboration with our leading genetic experts, research partners and internationally accredited laboratories, we provide clinical-grade tests, services and support that empower you to make informed and proactive health choices for you and your family.
What is genetic testing?
Genetic testing is a type of test that identifies changes in genes, chromosomes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder.
More than 77,000 genetic tests are currently in use, and more tests come on the research and commercial market everyday.
Genetic testing involves looking for changes in:
Gene Panels test DNA sequences to identify variations (mutations) in genes that can cause or increase the risk of a genetic disorder. Gene tests can be narrow (just one gene) or large in scope (up to 1000 genes). Analysis can include looking at a single DNA building block (nucleotide), one or more genes, or all of a person’s DNA (which is known as their genome).
At Eugene, we offer proactive genetic testing. The greatest benefits are seen when testing healthy people to help predict or identify individuals who carry genetic variations that will increase their chances of developing a genetic-related condition. We utilise large egentic panels which look for sequence variations in many genes. The exact number varies depending on the specific test you chose to do. If you have a specific family history - it is very important to tell your Eugene genetic counsellor about this to ensure that you understand the likely outcomes and potential limitations of our tests.
Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition.
Biochemical genetic tests study the amount or activity level of proteins or enzymes; abnormalities in either can indicate changes to the DNA that result in a genetic disorder.
No one likes needles and everyone likes the convenience of at-home care. So saliva is the obvious answer. What makes it even better is that the DNA in saliva comes from cells that are shed from the inner linings of the mouth, cheek and white blood cells. These DNA-containing cells are collected in saliva, and the DNA can be extracted to be analysed in genetic testing.Research has revealed that DNA from saliva is equivalent in quantity and purity to DNA obtained from blood, and that, when collected using the proper technique, it can be stable for years at room temperature. That means, you can collect your sample from the privacy and comfort of home and once you pop it in the post, we ensure that it safely and securely makes its way to the lab, so that you can get your results.
Carrier testing made easy for you and your patients.
Single variant tests look for a specific variant in one gene. The selected variant is known to cause a disorder (for example, the specific variant in the HBB gene that causes sickle cell disease). This type of test is often used to test family members of someone who is known to have a particular variant, to determine whether they have a familial condition.
Single gene tests look for any genetic changes in one gene. These tests are typically used to confirm (or rule out) a specific diagnosis, particularly when there are many variants in the gene that can cause the suspected condition. This test is typically used to provide a genetic diagnosis to someone who has presented with specific clinical features.
This is currently the only type of testing at Eugene.
Panel tests look for variants in more than one gene. This type of test is often used to pinpoint a diagnosis when a person has symptoms that may fit a wide array of conditions, or when the suspected condition can be caused by variants in many genes. (For example, there are hundreds of genetic causes of epilepsy.) Panels can also be used to test healthy individuals for a broad range of conditions. At Eugene, we are passionate about empowering you with proactive health information. Having information at the right time is essential to enable you to make information health choices. That is why we divide our tests into groups that impact specific areas of health.
Whole exome sequencing / whole genome sequencing
These tests analyse the bulk of an individual’s DNA to find genetic variations. Whole exome or whole genome sequencing is typically used when single gene or panel testing has not provided a diagnosis, or when the suspected condition or genetic cause is unclear. Whole exome or whole genome sequencing is often more cost- and time-effective than performing multiple single gene or panel tests.
Clinical-grade genetic testing takes time with specific expertise required and quality assurance processes at our world class laboratory.
There are many many ways to look at, analyse and interpret genetic information - not all genetic tests provide diagnostic grade information which means you should only make medical decisions when results are produced by a certified laboratory. Eugene only works with internationally accredited laboratories that are CLIA and CAP certified. That means your results can help inform your medical management and can be used directly to facilitate further testing that may be required as part of your healthcare choices.
Genetic tests are designed to fulfill specific purposes - that is why genetic counselling is an essential part of choosing to have any genetic test. Genetic counselling is an opportunity for our clinical experts to understand your motivations for testing and your personal medical history and allows us to explore the potential outcomes, benefits and limitations of testing with you.
What is bioinformatics?
Bioinformatics, is a scientific subdiscipline used to find meaning behind genetic and genomic data. Bioinformatics involves using computer technology to collect, store, analyze and share biological data and information, such as DNA. The technology that underlies bioinformatics is what helps to understand sequence variations. Scientists and clinicians use international research and clinical databases that organize and index such biological information to increase our understanding of health and disease and, in certain cases, as part of medical care.
Because the field of genomics is relatively new, scientists understand of genetic variation changes over time. This is why your results may change over time too. Not because your DNA changes, rather because scientists understanding of what your unique genetic variations mean for your health.
Why don't all people with the same genetic variations have the same symptoms?
Genomic variation is just the beginning of understanding how our genes influence our health, growth and development. While genomics involves the study of heritable or acquired alterations in the DNA sequence, epigenetics is the study of heritable changes in a genes activity caused by mechanisms other than the DNA sequence itself.The concept of variable penetrance is clearly seen when multiple members of the same family have the same conditions caused by the same gene variation - yet their symptoms may appear at different stages of life and vary in severity. It is also possible that someone with a gene variation may never develop symptoms of the condition.