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Genetic Testing in London: Your Questions Answered

Essential guide to genetic testing

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Genetic testing is becoming an increasingly common tool in medicine’s arsenal to understand the human body and how our DNA affects our overall health. This article explains why genetic testing is so helpful and how it works.

What is gene testing and why is it becoming popular?

Genetic testing, also known as genomic testing, is usually used to find certain cancers and inherited health conditions, such as Huntington’s, that may prove debilitating later on. Babies can be tested for Down’s syndrome and cystic fibrosis, for example.

It can let would-be parents know whether or not they risk passing on a genetic condition to a child should they decide to become pregnant. Genetic testing can also inform a young adult if they are more at risk of developing a serious health condition, such as particular forms of cancer.

The testing looks for alterations in an individual’s DNA. Genetic testing can look at genes, chromosomes and proteins. In terms of genes, it can be basic, such as looking at a DNA building block, or it can be more extensive by testing several genes simultaneously. The most thorough type of gene test involves looking at an individual’s entire DNA, known as Whole Genome Sequencing (WGS).

When analysing chromosomes, the tester will look at an entire chromosome or a length of DNA. With proteins, the test examines how many there are and their performance. The test looks for abnormalities in the usual sequencing of both chromosomes and proteins.

Difference between hereditary genes and somatic genes

Gene variants indicate a permanent change in the DNA sequence of a gene. These variants can be inherited from our parents or developed over our lifetime (known as a somatic variant). Both should be tested.

Inherited variants are also referred to as germline variants. That’s because we receive them via the DNA in our mother’s egg or father’s sperm cells. They tend to be present in all our cells.

Non-inherited variants happen during our lifetime and cannot be passed on to our children. They tend to occur as a result of environmental pollution or UV radiation. The result is cancer cells; somatic testing is usually performed on tumours.

Germline testing, on the other hand, is used to find out if a genetic test has occurred in all the cells in the body. 

What are BRCA1 and BRCA2 genes for cancer? 

Both BRCA1 and BRCA2 genes produce proteins that will repair DNA if it is damaged. Every human has both genes because they were inherited from either parent. If the genes mutate, they can often result in cancer, particularly breast and ovarian cancer. Children who have inherited a mutated variant of the BRCA1 or BRCA2 gene are very likely to go on and develop cancer.

What is the Genetic Methylation test?

Methylation is a vital chemical process occurring billions of times per second in every cell of the body. Genetic methylation tests, made popular by Human Biologist Gary Brecka, screen for abnormal DNA methylation patterns in specific genes. These are one-time tests providing crucial informaitno on gene variants that are essential for long term health.

The Gary Brecka DNA test covers genes such as COMT, AHCY, MTRR, MTR, and MTHFR, making it a preferred choice among professional athletes, fitness enthusiasts and biohackers who focus on training, recovery and achieving peak human performance.

How does the process for genetic testing work?

Genetic testing is carried out on an individual’s blood, skin, hair or another type of tissue. In the case of testing a baby for Down syndrome, this is done when the baby is still in the womb by taking a sample of the amniotic fluid.

Testing is achieved by collecting a sample of the cells on the inside of an individual’s cheek via a brush or swab. This is then sent on to a laboratory where it is examined for changes in DNA, proteins or chromosomes, depending on what is being tested for. The test results are then sent to a doctor or the patient.

In the case of a baby, a doctor takes a blood sample from the heel via a pinprick. If the test proves positive, further tests are carried out to determine if a genetic disorder exists.

If the test indicates that a severe disease is present, then a genetic counsellor can often help an individual attempt to come to terms with the news. In many cases, it’s a good idea to chat with a genetic counsellor beforehand to determine how, if the condition may be inherited, you can – or should – inform other family members so that they too can be tested.

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