Genetic Testing

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Your body is made up of millions of tiny cells. Different types of cells form the different structures of the body - skin, muscles, nerves, organs, etc. Proteins are large, complex molecules that play many important roles in your body. They do most of the work in cells and are required for the structure, function and regulation of your body’s tissues and organs.

DNA stands for deoxyribonucleic acid. DNA forms your genetic material. Genes, which are made up of DNA, act as instructions to make proteins. In humans, genes vary in size from a few hundred DNA bases to more than 2 million bases.

In the centre (nucleus) of most cells in your body, the DNA molecule is packaged into thread-like structures called chromosomes. You have 46 chromosomes arranged in 23 pairs. These are made up of 22 pairs of autosomes (numbered 1 to 22) and also one pair of sex chromosomes (either XX for females and XY for males). One chromosome from each pair comes from your mother and one from your father.

A gene is the basic unit of your genetic material. It is made up of a sequence (or piece) of DNA and sits at a particular place on a chromosome. So, a gene is a small section of a chromosome. Each gene controls a particular feature or has a particular function in your body. For example, dictating your eye colour or hair colour, making all the various proteins in your body, etc. Each gene is part of a pair. One gene from each pair is inherited from your mother, the other from your father. Each chromosome carries hundreds of genes.

Humans have between 20,000 and 25,000 genes altogether. The total of all your genes is called your genome.

As our cells are multiplying all the time, our genetic information needs to stay the same. Normally, there are excellent mechanisms in place to make sure each cell gets the exact same copy of DNA, the material that makes up our genes. However, sometimes the copying mechanism makes mistakes or other problems can occur with your genetic material. Problems and abnormalities in genes can lead to genetic diseases.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes or proteins. Gene tests look for abnormalities in DNA taken from a person's blood, body fluids or tissues. The tests can look for large mistakes such as a gene that has a section missing or added. Other tests look for small changes within the DNA. Other mistakes that can be found include genes that are too active, genes that are turned off, or those that are lost entirely.

Genetic tests examine a person's DNA in a variety of ways. They are all designed to identify differences between the gene being tested and what would be considered to be a normal version of the same gene.

There are different types of genetic testing which include:

Molecular genetic tests (or gene tests)

These look at single genes or short lengths of DNA taken from a person's blood or other body fluids (for example, saliva) to identify large changes, such as a gene that has part of it missing or a section added, or small changes, such as a missing, added or altered part within the DNA strand. An example of a condition that is tested in this way is cystic fibrosis.

However, there are limitations to genetic testing, as it is only useful if it is known that a specific genetic mutation causes a certain condition. A mutation is a permanent change in the DNA sequence that makes up a gene. For example, a specific gene mutation is known to cause Huntington's disease. It is therefore possible to test a blood sample for the presence or absence of this gene mutation. For many conditions - for example, diabetes - there may be any one of hundreds or even thousands of different possible mutations in a particular gene, which means genetic testing for those conditions is virtually impossible.

Chromosomal genetic tests

These look at the features of a person's chromosomes, including their structure, number and arrangement. Parts of a chromosme can be missing, be extra or even be moved to a different part on another chromosome.

There are different ways in which chromosome tests can be undertaken. These include:

  • Karyotyping - this test results in a picture of all of a person's chromosomes. It can identify changes in the number of chromosomes (for example, Down's syndrome in which there is an extra chromosome number 21).
  • Fluorescent in situ hybridisation (FISH) analysis - this test looks at certain parts of the chromosomes and can detect very small pieces of chromosomes that are either missing or extra (for example, Duchenne muscular dystrophy).

Biochemical tests

Biochemical tests look at the amounts or activities of key proteins. As genes contain the DNA code for making proteins, abnormal amounts or activities of proteins can signal genes that are not working normally. These types of tests are often used for newborn screening. For example, biochemical screening can detect infants who have metabolic conditions such as phenylketonuria.

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 1,000 genetic tests are currently in use, and more are being developed all the time.

Genetic testing is performed in different ways including:

Newborn screening

Newborn screening is used just after birth to identify genetic disorders that can be treated early in life. For example every baby in the UK is tested for cystic fibrosis as part of the heel prick test.

Diagnostic testing

Diagnostic testing is used to identify or rule out a specific genetic condition if a baby or person has symptoms to suggest a certain genetic condition (for example, Down's syndrome).

Carrier testing

Carrier testing is used to identify people who carry one copy of a gene mutation (a genetic change) that, when present in two copies, causes a genetic disorder (for example, sickle cell disease). This type of test can be useful to provide information about a couple’s risk of having a child with a genetic condition.

Prenatal testing

Before birth (prenatal) testing is used to detect changes in an unborn baby's genes. This type of testing is offered during pregnancy if there is an increased risk that the baby will have a genetic or chromosomal disorder. It cannot identify all possible inherited disorders and birth defects, however.

Pre-implantation testing

Pre-implantation testing is also called preimplantation genetic diagnosis (PGD). It is used to detect genetic changes in embryos that have been created using techniques such as in-vitro fertilisation (IVF). In this technique, egg cells are removed from a woman's ovaries and then fertilised with sperm cells outside the body. To perform pre-implantation testing, a small number of cells are taken from these embryos and tested for certain genetic changes. Only embryos without these changes are put into the womb (uterus) in the hope of achieving a pregnancy.

Predictive testing

Predictive testing is used to detect genetic mutations associated with disorders that appear after birth, often later in life. These tests can be helpful to people who have a family member with a genetic disorder, but who have no features of the disorder themselves at the time of testing (for example, breast cancer associated with the BRAC1 gene). Predictive testing can identify mutations that increase a person’s risk of developing disorders with a genetic basis, such as certain types of cancer.

Testing can also determine whether a person will develop a genetic disorder, such as haemochromatosis, before any signs or symptoms appear. People in families at high risk for a genetic disease have to live with uncertainty about their future and their children's future. A genetic test result showing a known gene mutation responsible for a certain disease as not being present in a person can provide a sense of relief.

Forensic testing

Forensic testing uses DNA sequences to identify a person for legal purposes. Unlike the tests described above, forensic testing is not used to detect gene mutations associated with disease. This type of testing can also be used to work out the paternity of a child. Forensic testing can also be used for identifying a human remains when identification is not possible by other means eg after a natural disaster such as a fire or tsunami.

Genetic testing usually involves taking a sample of blood or tissue. In adults and children this usually involves taking a blood sample from a vein. Some genetic tests can be done from samples of saliva or from taking a swab from the inside of your mouth.

In pregnancy, a sample may be taken from the baby by amniocentesis or chorionic villus sampling. In amniocentesis a sample of the liquid (amniotic fluid) that surrounds a baby is taken. It is done by putting a needle though the tummy (abdomen) into the womb (uterus). In chorionic villus testing a sample of part of the placenta is taken. This is either done by inserting a needle into the abdomen like in amniocentesis or by putting a thin tube into the neck of the womb (cervix). Both tests involve a very small risk that you may suffer a miscarriage as a result of having the test. If you are offered these tests, doctors will discuss the risks involved to help you to make a choice about whether to have the test or not.

In newborns, routine screening for genetic conditions such as phenylketonuria happens as part of a baby's heel prick test when they around five days old.

After the sample has been taken it is sent to the laboratory for testing. It may take some time for the results of all the tests to come back. Your doctor should advise you how long the results will be.

A variety of genetic tests can be bought individually, many now over the Internet, which usually involve scaping the inside of your cheek to obtain some cells for testing. These are not recommended by doctors. Many test for conditions for which there is no treatment so they can heighten anxieties if you test positive for one of these conditions. They may also test for diseases that you may never actually get in the future if you do not have other risk factors. For example, testing positive for the BRAC1 gene does not mean that you will definitely develop breast cancer in the future.

Before you undergo any of these tests, it may be worth asking yourself if you are prepared to make changes in your lifestyle, based on the test results. If you are not willing to take actions like stopping smoking or exercising more, such tests may not be of much benefit to you.

Many of these tests are also unreliable and can lead to very misleading results. If you would like to be tested for a genetic condition then you should talk to your doctor about this in more detail.

The information obtained from genetic testing can have a profound impact on your life. Genetic counselling is available to anyone undergoing, or thinking of undergoing, any form of genetic testing. Genetic counselling is not a psychological therapy. It aims to provide you with all the information you need to make a decision about whether you should have a genetic test.

Genetic counselling may include information about:

  • The implications of testing positive for the condition, including the psychological impact and other consequences.
  • Whether to inform relatives of your intention to test, or not to test.
  • The usual pattern of progression of the disease you are being tested for and its potential treatments.

The information is given in a non-directive manner, as it is important that the family reaches its own decisions.

As they consider the options available to them, people are influenced by:

  • The risk of transmitting a disorder.
  • The severity of a disorder.
  • The availability of diagnosis before birth (prenatally).
  • Moral, social and religious convictions.

Post-test counselling is also available to help you deal with the results of the test.

Note: the information above is a general guide only. The arrangements, and the way tests are performed, may vary between different hospitals. Always follow the instructions given by your doctor or local hospital.

Further help & information

Original Author:
Dr Rachel Hoad-Robson
Current Version:
Peer Reviewer:
Prof Cathy Jackson
Document ID:
12711 (v4)
Last Checked:
Next Review:
The Information Standard - certified member
Now read about Prenatal Diagnosis

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