Genetic testing involves looking at an individual’s genes to determine whether there is a risk of a future health condition.
It can also be used invitro to tell if a baby may be susceptible to Down’s syndrome, for instance. Parents can also be screened pre-conception to see if there is the danger of passing on hereditary genes for a particular health condition.
The testing itself usually involves taking a sample of blood, saliva or some other tissue.
Also called DNA analysis, genetic testing looks at genes found in chromosomes inside the cells of the body.
Different types of genetic tests
There are three main types of genetic tests currently available. These are:
- Diagnostic tests. These can be useful in helping to determine the cause of a particular disease.
- Predictive tests. These can let doctors know if an individual has metabolic characteristics that may in future lead to being susceptible to a particular disease under particular circumstances ie if they get too much UV light it could lead to skin cancer.
- Prognostic tests. These help doctors predict how likely an individual is to get a particular disease as they age. They can also indicate the likelihood of it being passed on to a parent’s offspring.
Multiple types of genetic panels are available. These can be taken individually or combined, depending on your personal requirements. The most sought after genetic testing panels include:
Genetic Testing for Cancer
Genetic testing can identify mutations in genes that are associated with an increased risk of certain types of cancer. This information can help individuals make informed decisions about their health and preventive measures, such as more frequent screenings or preventive surgeries.
Genetic Testing for Metabolic Disorders
These tests can detect inherited metabolic disorders that affect the body’s ability to convert food into energy. Early detection can lead to timely interventions and management strategies to prevent serious health problems.
Genetic Testing for Fertility
Genetic tests can help identify genetic causes of infertility in both men and women. This can guide treatment options and provide insights into the likelihood of successful conception and potential genetic risks to offspring.
Genetic Testing for Cardiomyopathy
Genetic testing can identify mutations that cause cardiomyopathy, a disease of the heart muscle that can lead to heart failure. This information can help in early diagnosis, family screening, and management of the disease to prevent severe complications.
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What is whole genome sequencing?
Whole genome sequencing is a comprehensive method for analyzing the entire genetic makeup of a person.
To make genetic testing easier to understand, some doctors liken genes to sentences in an instruction manual that tell the body how to function. Genes help produce molecules called proteins, which, in turn, help create cells, tissues, and organs in the body. They also help maintain them and ensure they function as they should.
Genes make up around two percent of the body’s genome (or DNA). This portion of the genome is called the exome and is traditionally used for genetic testing. These days, however, Whole Genome Sequencing (WGS) is possible. It works by analyzing all three billion DNA base pairs of an individual’s genome. This means many variant types and a lot of genes are tested at the same time – all those that doctors have identified ‘on the testing panel.’ In other words, the entire genome is analyzed, not just selected parts.
Once used primarily for finding rare diseases, WGS is now also used for detecting cancer.
Cost of genetic testing
The cost of genetic testing ranges from as little as £300 for a single panel to over £2000 for whole genome sequencing. The price varies based on the complexity of the test, the type of genetic panel, and whether more than one family member is undergoing screening.
Prices have decreased in recent years due to the increased number of clinics offering these services. Additionally, many people, particularly those with the BRCA1 and BRCA2 genes, are seeking testing to identify their risk of developing cancer.
Public healthcare options, such as the NHS, sometimes offer genetic testing for free if the individual meets certain criteria, such as having a strong family history of a particular disease.
Private genetic testing clinics in London
Genetic testing is possible on the NHS via a GP or Consultant referral. But many people today are opting to cut waiting lists and go privately. The following all provide forms of genetic testing:
We provide access to private genetic profile tests in central London at our partner diagnostic facility located on Baker Street. All major types of genetic profile tests are available. Get in touch for a quotation.
Provides a fully-integrated genetic testing service which works with multi-disciplinary teams in both fertility and oncology. Tests at the London clinic include Next Generation Sequencing (NGS) analysis, as well as rapid turnaround analysis.
HSHC staff use a simple blood test to analyse genes and will then provide results by telephone or via a doctor (if a consultation was held previously). It’s possible to book a test for the clinic online.
Staff prefer to take a blood test (as there is less risk of contamination) but on occasion will also use saliva or tissue. Lab results are sent to the patient’s doctor. Offers testing for cardiomyopathy, cancer and metabolic disorders. Also fertility, rare genetic conditions and parent screening.
Based in Portland Street, London, as well as providing gene test results, the IGC also offers pre-pregnancy planning, genetic wellbeing, personalised genetics, diagnostic testing and pre-natal examination.
Guy’s and St Thomas’s Specialist Care
This clinic, based at the Royal Brompton Hospital in London, offers genetic tests for individuals and families at possible risk of contracting inherited cardiac respiratory or cardiac disease.
One of London’s outstanding hospitals, the Royal Marsden provides a private genetic screening clinic for individuals concerned about hereditary cancer. Staff use blood or saliva to carry out a genetic panel test.
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