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What is pharmacogenetic testing?

Pharmacogenetics, or pharmacogenomics, is the study of how genes (DNA) affect the body’s response to certain medication. The genes carry information that determines how safe and effective a particular drug could be for you. Genes can be the reason why the same medication at the same dose will affect people in very different ways. Genes may also be the reason some people have bad side effects to certain medication, while others have none. Pharmacogenetic testing looks at specific genes to help figure out the types of medication and dosages that may be right for you.

What is required for the test?

Testing is done by means of cheek (buccal) swabs. Buccal swab kits can be
requested from our laboratory or go to one of the clicks clinics we work with. There is
very little to no risk involved in taking a buccal swab.

Limitations of Pharmacogenetics

Not all medication is covered in the gene test offered. However, the DNA test
we offer cover 74 markers on your DNA and is informative for a range of
medication related to cardiovascular disease treatment, antipsychotics and
antidepressants, oncology and pain medication.

Advantages of Pharmacogenetic testing?

  • To determine whether certain medication could be effective for you and to assist medical practitioners in determining your treatment (personalised treatment)
  • Determine the best dosage for you to minimise unpleasant or fatal side effects, which will contribute to your quality of life

FAQs

frequently asked questions related to Pharmacogenetics

WHAT IS THE DIFFERENCE BETWEEN GENETICS AND GENOMICS?

Genetics is the study of DNA and their genes and the influence thereof on health and disease.

Genetics explains the way characteristics are passed down from one generation to another. Genes carry the instructions for making proteins, which in turn, direct the activities of cells and functions of the body that influence traits such as hair and eye colour.

Genomics is a term that describes the study of all the genes in an individual, as well as interactions of those genes with each other and their environment (e.g diet).

Advances in genomics enables screening for genetic mutations to identify a potential disease before symptoms appear.

HOW DOES GENOMICS INFLUENCE MY HEALTH?

Genomics plays a part in most of the leading causes of death. The study of genomics helps us find out why some people get sick from certain infections, environmental factors, and behaviors, while others do not. By understanding the interactions between gene, behaviour and the environment, we can find better ways to improve health and prevent diseases.

WHAT IS GENETIC TESTING?

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins and is used to find changes that are associated with inherited disorders. 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. Several hundred genetic tests are currently in use, and more are being developed.

Genetic testing is voluntary and has many benefits but there are limitations as well.

WHAT IF I ALREADY KNOW I HAVE A FAMILY HISTORY OF A DISEASE LIKE CANCER?

Genetic testing for hereditary diseases helps you and your doctor understand your true risk so you can make the best choices for preventative medical care. Knowing your family history is a very important first step, but genetic testing provides a more accurate assessment of your inherited risk.

IF GENETIC TESTING IS SO VALUABLE, WHY HAVEN’T I HEARD OF IT?

There is no question that genetic testing is the most accurate way of determining a patient’s risk of developing an inherited disease. However, many doctors, especially those who see patients for a wide range of conditions, may not yet have information on the very latest genetic testing options for their patients. You or your doctor can contact us for more information.

ARE THE GENETIC TESTS OFFERED BY GENEDIAGNOSTICS COVERED BY MEDICAL AID?

Some tests are covered by medical aid and the list is expanding. Please contact us for information on any specific test.

WHAT HAPPENS TO MY GENETIC TEST RESULTS?

Genetic test results are strictly confidential. GENEDiagnostics only release test results to the individual or doctor who ordered the test. Even when insurance plans pay for testing, the medical aid does not receive the results. Under no circumstances will GENEDiagnostics give patient results to any other party without the written consent of the patient.

WHAT ARE THE CHANCES THAT MY CHILDREN AND/OR FAMILY MEMBERS HAVE THE CONDITION?

If someone in a family has a disease the other members have a higher chance of carrying that gene relative to the normal population risk. Diseases are generally not just a result of one factor but rather the result of interactions of genes with your lifestyle (diet, exercise, smoking and drinking) that can be changed.

Some diseases result because a single gene is altered or missing (including hemophilia, cystic fibrosis, muscular dystrophy, and Huntington ‘s disease) and are called “single gene disorders. In this case genes play an extremely important role in determining whether or not a family member will also have the condition.

In these cases, family inheritance plays a much greater role in determining whether or not the condition is passed on. In these cases, behavioral and environmental factors don’t have a big effect on the disease but may improve someone’s quality of life. Speaking with your doctor or one of our preferred genetic counsellors is the best way to learn about your condition and its effect on your relatives.

ARE TESTS CONVENIENT?

Samples are stable for up to one week provided the swab was dried properly at room temperature and exposure was kept between 20°C and 37°C.

HOW ACCURATE IS THE TEST?

We have over 20 years experience in the industry and our laboratory is ISO compliant. Results are checked and rechecked to ensure that you can have absolute faith in the end product.

ARE TESTS PRIVATE?

Genetic results are governed by extremely strict laws and treated with strict confidentiality. Results are not given to any other third party.

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