Ask Questions before you are tested
Is the testing reliable?
The company should be able to provide you reliable, secure, accurate results followed by genetic counselling services for you to decide on your next options.
What impact will the test have on me and my family?
- How do I feel about having a test?
- What can the test tell me? What is the purpose?
- What would happen if the results are positive?
- Will the test provide me information on genetic counselling, lifestylechanges, preventive treatment and reproductive options?
Am I given a consent form prior to the test?
Informed consent provided to you should cover the following:
- The purpose of the genetic test
- The reason for offering the test to you and/or other family members
- The type and nature of the genetic condition being tested for
- Test accuracy
Pros and cons of testing (including the limits of what the results might tell you)
- Other testing options you could use
- Treatment options that might be available depending on the test results (if this applies to you)
- Further decisions that may need to be made once the results are back
- The possible consent to use the results for research purposes after the test
- Availability of counseling and support services
- Your right to refuse testing
Credence Tumor / Predictive Testing
What is Credence Tumor?
Credence Tumour tests for 50 genes that drive cancer and are pharmacogenomic targets for tailoring cancer therapy.
What causes cancer?
Cancer is the result of changes (mutations) in genes that control cell growth and death. In normal adult tissues, the rate at which new cells are made (cell growth) and old cells die is in balance. Genes inside each cell maintain this balance by controlling how the cell behaves.
There are many different types of genes that control cell behaviour. Cancer is the result of faults (mutations) in genes that control cell growth and death, and that repair mistakes in our DNA. Cells with these mutations may begin to grow in an uncontrolled way, forming tumours. Usually, several gene mutations must happen in a group of cells before cancer develops. This can take many years, which is why cancer is more common in older people.
Who is offered genetic testing?
Genetics tests can only be done for people who may have the cancer susceptibility genes that have been identified. If anyone of your first degree relative is diagnosed (parent, sibling, offspring) with a cancer, then you are usually offered for the predisposition or your likelihood of developing a cancer during the lifetime. T his is because if there is a cancer susceptibility gene in a family, you won’t definitely have inherited it. If a person has a faulty gene, there is a 50% (1 in 2) chance that they will pass it on to their child. So someone in your family who has been diagnosed with cancer is tested first to find out whether they have genetic cancer susceptibility.
What is the process of genetic testing?
Genetic testing involves checking a blood sample for gene faults (mutations) that are known to increase the risk of cancer.
Type 1- Mutation search
First, the laboratory looks for the particular gene fault (mutation) that may run in your family by testing a member of your family who has been diagnosed with cancer. This step is called the mutation search.
Type 2- Predictive Testing
If a gene fault known to increase the risk of cancer is identified in your family, you and other family members who may be at risk can be offered a test. This is called genetic screening, or predictive or predispositional testing.
Results of genetic testing may show that:
- The person affected by cancer who was tested wasn’t shown to have a mutation in a known cancer susceptibility gene – this is known as an inconclusive result.
- There is a gene mutation in the family, but you haven’t inherited it.
- There is a gene mutation in the family and you have inherited it.
What is newborn screening and why does my baby need it?
Newborn screening is the practice of testing all babies for certain hereditary and metabolic disorders and conditions that can hinder their normal development. Babies with these conditions appear healthy at birth but can develop serious medical problems later in infancy or childhood. Early detection and treatment can help prevent intellectual and physical disabilities and life-threatening illnesses.
Most babies are healthy when they are born. Babies are screened because a few babies may look healthy but may have a rare health problem. When problems are found early, serious health problems like mental retardation and even death can often be prevented.
How will my baby be tested?
Newborn screening usually begins with a blood test 24 to 48 hours after the baby is born. The test is performed by pricking the baby’s heel to collect a few drops of blood. Sometimes a repeat blood test is required; particularly if the first test was done before the baby was 24 hours old. If the results of the test are abnormal, additional testing is required to confirm the result. Parents are notified within a few days of the first test if retesting is necessary. The blood test should be repeated as soon as possible.
How will I get the results of the test?
Your paediatrician will be notified of screening test results. They will in turn discuss the results with the parents. If additional tests are needed, the parents will be told. A follow-up coordinator from the screening program will monitor to be sure that any further testing is conducted in a timely way so that treatment or management of a condition can be started quickly if needed.
What are the options available for me if my baby’s screening test shows a problem?
You will be contacted if your baby requires additional testing for further confirmation of the disease state. If it is a hereditary condition, you will be provided with the guidance of a genetic counsellor who will help you in deciding your baby’s lifestyle/ treatment options.
What is CredenceCarrier?
CredenceCarrier is a genetic diagnostic test designed by Credence Genomics that will help the healthcare providers and doctors to simultaneously sequence a multiple genes as opposed to single gene testing. This test aims to screen young couples for their risk of hereditary diseases before they embark on a pregnancy. CredenceCarrier will help you in deciding your best reproductive option if you are found to be carrying a faulty copy of a gene which can be passed to your offspring.
CredenceCarrier based on next generation sequencing, enables simultaneous testing of 325 genes responsible for 853 inherited disorders.
Why is carrier screening important?
Carrier screening is well- recognized over the world for the many advantages it has to offer in the prevention, management and treatment of disease. Among the many uses, carrier screening presents you an opportunity to become informed about your genetic predisposition to disease, and for you and your partner to be aware of the possible genetic characteristics of your unborn children.
Carrier screening will be followed by genetic counselling to provide you support and information you require in;
- Interpretation of genetics tests to medical data,
- Conducting physical examination of yourself and other family members when indicated
- Providing guidance to help you make a decision about testing
- Explaining possible treatments or preventive measures
- Discussing available reproductive options.
Who should undergo carrier screening?
You should opt for carrier screening if any one of the following is applicable to you-
- If a family member of either yours or your partners is diagnosed with a hereditary genetic condition, disorder, birth defect or developmental delay
- If you or your partner has been previously diagnosed to be a carrier of a specific genetic condition
- If you are a woman who
– Is 35 or older on your due date.
– Had a stillbirth, three or more miscarriages of unknown cause, or a baby who died in infancy.
– Had chemotherapy or have a medical condition, such as epilepsy or diabetes, that could directly affect your baby’s health or require you to take medications that could affect his health.
– Was to substances that may cause birth defects, such as radiation or toxic chemicals or had certain infections (such as rubella, chicken pox, or cytomegalovirus) during your pregnancy.
– Had positive result on the nuchal translucency screening or first trimester combined screening, or on your multiple marker screen.
- If the foetus has been en diagnosed with a genetic disorder through prenatal testing such as amniocentesis or chorionic villus sampling.