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Genetic Testing

Genetic Testing

We are excited to announce, we are introducing a new genetic testing service to help you identify whether you are at risk of developing common hereditary cancers or heart conditions.

Genetic Testing

What is genetic testing?

Genetic testing can be used to identify whether an individual is at risk of developing common hereditary diseases or conditions. This enables you to take control of your healthcare to detect, understand and manage any problems at an early stage, when they are most treatable.


How does genetic testing work?

Through the analysis of your DNA, by using a sample of your saliva, it is possible to establish if you have any specific genetic mutations which are associated with an increased risk of developing conditions such as heart disease or certain forms of cancer.

What are the benefits of genetic testing?

Genetic testing provides your clinician with a level and depth of knowledge they can't get from any other individual test or scan. Armed with this knowledge, you can work with your healthcare provider to create a personalised screening and prevention plan, designed to help reduce your risk of developing a disease or condition. Genetic testing allows for:

  • Earlier and more frequent screenings - For example, if you have an increased risk for breast cancer, your healthcare provider might recommend mammograms at an earlier age.
  • Preventive measures - Your healthcare provider may suggest preventive measures, such as certain medications that can reduce your cancer risk.
  • Proactive care for your family - As hereditary health disorders run in families, your results can help your loved ones understand their familial cancer risk.

Although a negative result doesn't guarantee that you won't develop any of these disorders in your lifetime, it can reduce unnecessary worrying and enable you to make informed decisions about your future healthcare.

How are genetic tests performed?

Before any samples are taken, patients must undergo compulsory pre-test counselling with a trained doctor to help them understand the implications of any result.

After the doctor has completed the consultation, the patient is sent the genetic testing kit via post.

The test is performed via a saliva sample that is collected by the patient in their own home. This is a non-invasive way to collect DNA samples for testing. The only stipulation is that patients are advised not to eat, drink, chew gum or smoke for at least 30 minutes prior to taking their sample.

When the test sample has been collected, it needs to be posted to the Laboratory in the pre-paid envelope provided with the test kit.

The sample is then analysed; and tests results are sent directly to a trained clinician for interpretation, usually within 3 - 4 weeks of receipt of the sample at the laboratory.


How are the genetic test results delivered to the patient?

In the event of a negative result, the patient will be contacted by a clinician and informed accordingly.

The receipt of a positive result will result in the input of a consultant who will further interpret the result and advise the patient of the most appropriate next steps.

Patients with a positive result can be referred into the NHS. This may be done via the consultant who will discuss the next steps for the individual with regard to screening and/or onward referral.

Genetic Cardiac Testing

The genetic cardiac test analyses 77 genes related to inherited cardiovascular conditions that, if detected early, may have effective interventions and preventive measures. This can identify conditions such as high cholesterol, that may be evaluated and treated differently from conditions without a genetic cause.

The Genetic Cardiac test covers:

  • Cardiomyopathies - Disease of the heart muscle
  • Arrhythmias - Disease of the heart rhythm
  • Aortopathies - Disease of the aorta
  • Familial Hypercholesterolemia - Inherited high cholesterol disorder
  • Thrombophilia - Abnormal tendency to develop blood clots

View Genes Tested

Who should considder Cardiac Testing?

Genetic cardiac testing may be appropriate if you have a known or suspected diagnosis of one or more of the following:

  • Unexplained arrhythmia
  • Cardiomyopathy
  • Sudden and unexplained cardiac arrest
  • Conditions that affect the aorta
  • Hypercholesterolemia
  • Pulmonary hypertension
  • Congenital heart disease
  • A family member with one of the above conditions whose genetic cause is already known

Heart Genetic Test Kit

Genetic Cancer Testing

The genetic cancer test covers 30 genes known to increase the risk of cancers including:

  • Breast Cancer
  • Ovarian Cancer
  • Uterine Cancer
  • Colorectal Cancer
  • Melanoma
  • Stomach Cancer
  • Pancreatic Cancer
  • Prostate Cancer

View Genes Tested

Detecting cancer early improves the odds of survival; and knowing your risk can help you take action.

Hereditary cancer is caused by an inherited genetic mutation. It is typical to see a recurring pattern of cancer across two to three generations. In fact, 10-15% of most cancers are due to inherited genetic mutations.

The 5-year survival rates for the cancers covered by the hereditary cancer test increase dramatically if they are caught at an earlier and more treatable stage.

A mutation can greatly increase a woman’s risk for developing hereditary cancer.

For example, a BRCA1 mutation can increase the chances of breast cancer up to 81% and ovarian cancer up to 54% by age 80.

A mutation can greatly increase a man’s risk for developing hereditary cancer.

For example, an APC mutation can increase the chances of colorectal cancer up to 70-100% by age 80 if untreated.


Cancer Genetic Test Kit

Combined Cancer and Cardiac Testing

The Combined Test tests for the most common genes associated Cardiac conditions and Cancer, but also includes:

Cancer features

BRCA1 & BRCA2

2 Genes that significantly impact breast and ovarian cancer risk. Recognised by the CDC as important for public health.

Lynch Syndrome

5 genes that impact colon and uterine cancer risk, among others. Recognised by the CDC as important for public health.

23 Additional genes that give a thorough understanding of risk for breast, ovarian, uterine, colon, prostate, melanoma and pancreatic cancers.

Heart Test Features

Hereditary High Cholesterol (FH)

3 Genes linked to a genetic form of high cholesterol. Recognised by the CDC as important for public health.

27 additional genes associated inherited heart conditions. Recognised by American College of Medical Genetics and Genomics as having actionable treatment plans.

The test also identifies 2 genes that can influence how your body processes certain medications for mental health conditions. Knowing one’s genotype can help reduce adverse drug reactions or therapeutic failure and get them started on the best drug for them sooner.

Medications Covered:

  • Amitriptyline
  • Citalopram
  • Clomipramine
  • Desipramine
  • Doxepin
  • Duloxetine
  • Escitalopram
  • Fluvoxamine
  • Imipramine
  • Nortriptyline
  • Paroxetine
  • Sertraline
  • Trimipramine

View Genes Tested

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The Independent General Practice