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Genetic Testing & How It Can Benefit You

Overview

Genetic testing, once relatively unknown, has become increasingly common in recent years after Angelina Jolie sparked interest in the topic following her revelation that she had undergone a double mastectomy to reduce her chances of developing breast cancer.


All of us (men and women) have a one in two risk of being diagnosed with a form of cancer in our lifetime. Proactive genetic testing enables you to learn about how your genes could potentially impact your health and allows you and your healthcare provider to create a personalised health plan designed to prevent or detect and treat cancers early.


Using just a sample of your saliva, we can now analyse for certain gene mutations that attribute to many common cancers and cardiac problems.

Genome Testing & Cancer

Today in the UK, women tend to be offered genetic testing for the corrupted gene if cancer runs in the family. By understanding their risk factor, women can be monitored more closely for cancer and if necessary, have preventative surgery.


It can also have a wider reaching impact and may be important information to share with your relatives. For example, if a man or woman carries a mutation in BRCA1 each of their parents (mother and father), siblings (brothers and sisters) and children (sons and daughters) have a 50% chance of carrying the same mutation.

 

What is the Faulty Gene?

Although most cancers are not usually inherited, some types – mainly breast, ovarian, colorectal and prostate cancer – can be strongly influenced by genes, and this can run in families. Inheriting the faulty genes can significantly raise your risk of developing cancer.

1). BRCA1 and BRCA2 are two genes that can raise your cancer risk if they become mutated as they can impair the body’s ability to repair damage to DNA in its cells.

Those with BRCA1 mutations are at significantly greater risk of developing certain cancers in their lifetime:

  • Chances of getting ovarian cancer range between 10% and 60%, compared to a 2% risk for those without the mutation.
  • Women have between a 45% and 90% risk of getting breast cancer, compared to 12.5% for those without the mutation.

2). The 30 Gene Panel Test analyses up to 30 genes associated with the most common hereditary cancers including breast, colorectal, melanoma, endometrial, prostrate, ovarian, stomach and uterine.

Genome Testing & Heart Disease

Heart disease in many cases is caused by a combination of lifestyle choices – being overweight, having an unhealthy diet, smoking and drinking all increase your risks of suffering from this disease. However, studies show that for one in 200 people it can have a genetic basis.

As research and technology advances we are beginning to identify more genetic mutations that cause these heart conditions. Knowing if you are at risk allows you take early action and can help you reduce your risk of developing this disease.

What is Inherited Heart Disease?

Inherited heart disease incorporates a range of conditions affecting the heart and circulatory system and can affect people of any age – it can be life-threatening. As there are many different types of inherited heart conditions, diagnosing the exact disease and gene mutation is key to providing effective treatment. The cardiac test covers 77 genes that are associated with an increased risk of the following types of heart disorders:

  • Arrhythmia
  • Arteriopathy
  • Cardiomyopathy
  • Genetic forms of high blood pressure and high cholesterol
  • Thrombophilia

Genetic testing in this area provides you the opportunity to determine if you have an increased risk of developing any of these conditions. The information gathered from your results can then be used in combination with family and personal health history to create a personalised health plan.

Why Take The Test

Understanding your genome structure provides many added benefits even if you don’t think there is a hereditary link. The tests we provide offer you the opportunity to have get a comprehensive view of your health risks and work with our consultants to build a proactive health plan for your future. Our tests provide:

  • Clear results about the presence or absence of any mutations that increase your risk for developing cancer
  • Detailed information on how your mutation status might affect relatives
  • Answers to common questions
  • Personalised reports tailored to your personal health and family cancer history.

What We Test

We offer three comprehensive genetic screening tests:

    • BRCA1/BRCA2 – breast and ovarian cancer.
    • 30 Gene Panel – breast, colorectal, melanoma, endometrial, prostrate, ovarian, stomach and uterine cancers.
    • 77 Cardiac Genes – for heart disorders such as arrhythmia, cardiomyopathy, arteriopathy, blood pressure.
    • Extended 30 Gene panel – which covers 30 Gene panel and cardiac profile

These tests will give you a full and comprehensive understanding of your body offering you the chance to make informed decisions about your health.

How Does Testing Work

The process for gathering a sample for your test is quick, simple and painless – all we need is a saliva sample. Below are the simple step-by-step instructions for completing your test.

STEP 1 – Request your kit: Contact our team and request a BRCA1 and BRCA2 test, 30 Gene Panel or Genetic Cardiac saliva test kit and we will post to you, or you can pick one up from the centre at your convenience.

STEP 2 – Payment: We can take payment over the phone or at the centre when you collect your test.

STEP 3 – Provide a saliva sample: Use the tube in your kit to provide a saliva sample and complete the request and consent form. You can do this at home or at our centre.

STEP 4 – Return the kit: You can either return the kit to our centre where we will be happy to post this for you, or you can post the sample pack free of charge at any post box.

STEP 5 – Results: Your sample with be sequenced and your genes analysed. Results are usually reported within 4-5 weeks after receipt in the laboratory.

Please be aware that these tests are only available to those aged 18 years or above.

Getting the Results

All patients will have a pre-test telephone medical review before any sample is taken. Once we’ve completed testing your sample, one of our trained medical team will contact you to discuss your results.

Clear results about the presence or absence of any mutations that increase your risk for developing cancer will be conveyed.

A positive result confirms that there is a mutation, or a genetic change in a specific gene has been identified. Your personal results will contain detailed risk information specific to the mutation identified in your genes, and or consultant will carefully talk you through this. This result does not mean that you have cancer or that you will definitely develop cancer in your lifetime.

There may also be implications for other family members and our consultants will be able to discuss this with you when explaining your result.

A negative result means that no mutations or genetic changes were identified in the genes that were analysed. This result does not eliminate your risk of developing cancer, and you may still be at an increased risk due to other factors, such as mutations not detected by current technology, or mutations in other genes.

Contact Us For A Test Today

Requesting a test is easy. Contact us using our contact form or call us directly to speak to one of our team who will arrange your telephone consultation, after which we will aim to post a test kit out to you within 24 hours of payment.

Don’t hesitate to get in touch to learn more about our genetic testing service.

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