Genetic Screening

At REMEDI HEALTH in Winchester, we have a wide range of genetic tests which can help reveal information about your current and future health.

Tests include genetic screening for pharmacogenomics (how we process medicines), hereditary cancer (prostate, colorectal, breast, gynaecological and melanoma), hereditary conditions such as familial hyperlipidaemia and haemachromatosis, DNA nutrition test and gender testing in pregnancy.

Complete with consultations before and after, these tests can be especially helpful for those wanting to know more about their future health and/or for those who do not have information about their family risks.

 

Book a Genetic Test

This consultation is booked with a member of the REMEDI HEALTH team.

Choose whether it’s better for you to have this in our clinic or remotely (phone or video consultation), then select a date and time from the calendar, enter your details and confirm what your consultation is for.

We take a full history to better understand your health background and what you want to achieve with your test.

To book this consultation and get underway, please click the button below to book a health consultation.

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Safe, private clinic

Our beautiful award-winning clinic is in the centre of Winchester and we look forward to welcoming you. Keeping you and others safe is our priority and so if you are unwell, please let us know in advance and we will make appropriate arrangements.

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Trained clinicians

Your appointment will be with a trained clinician in one of our private consultation rooms at our clinic in Winchester, or remotely. We can perform your genetic test in the clinic or post to you with full instructions.

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Specialist support

We work with specialist labs to ensure you get support before and after your genetic screen. If necessary, we can also make referrals for further investigations and/or refer on to your NHS doctor for regular screening.

About this service

Genetic screening is the process of testing for a genetic disease in order to identify people that either have the disease or the potential to pass it on to their offspring.
DNA is analysed by specialist partner labs and finds changes in genes that can cause health problems. It’s mainly used to diagnose rare and inherited health conditions and some cancers.
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About Genetic Screening

Genetic testing – sometimes called genomic testing – finds changes in genes that can cause health problems. It’s mainly used to diagnose rare and inherited health conditions and some cancers.

Why have a genetic test?

You may request a genetic test because:

  • a blood test has raised the possibility of a health condition which is caused by a change to 1 or more of your genes e.g. familial hypercholesterolaemia, haemachromatosis
  • someone in your family has a health condition that’s caused by changes to genes and you may want to know if you are at risk
  • some of your close relatives have had a particular type of cancer that could be inherited, and by knowing you can have more regular screening to detect potential early changes
  • you or your partner have a health condition that could be passed on to your children.
The impact on your family

You may want to consider how the results of a genetic test may affect you and others in your family.

If the genetic test shows there are changes to your genes that cause a health condition, this may mean that other members of your family also have it. In this situation, it may be recommended that other members of your family also have a genetic test.

There’s also a chance that the test gives you information about your relatives that you or they may not have known before. For example, it may show that you were adopted or that your biological father is not who you thought they were.

This is because the test can show that you do not share genes with your family members.

Find out more information from Genetic Alliance UK about the risks and benefits of genetic testing.

Having a genetic test

A genetic test is usually done using a sample of your blood or saliva.

The sample of blood or saliva is sent to one of our partner genetic testing laboratory to be analysed.

Results can take several weeks to come back.

Pharmacogenomics

Discover how your DNA influences your response to many prescribed and over-the-counter medications.

Identify how you respond to a medication and your risk of unwanted side-effects.

Identify medications that you should avoid completely.

Avoid the usual trial and error approach to treatment.

Improve quality of life.

Almost 99% of us carry at least one modification in our DNA that affects our response to many prescribed and over the counter medications, resulting in either unnecessary side-effects or it not working properly. Selection and dose of medications should NOT be a ‘one size fits all’ approach.

Specific genes in our DNA code for specialised enzymes that metabolise our medications or that change how the medication reaches a specific part of the body. Variations in these genes can cause significant differences in enzyme performance resulting in a drug not working in quite the same way in one person as it does in another.

You may metabolise the drug too quickly meaning that it might all be gone before it has its intended effect and therefore the standard dose is not enough for you. Or, you may metabolise the drug too slowly, and it hangs around for too long, building up beyond safe levels in your body, leading to side effects. A medication that is safe for someone else may be dangerous for you, even at the same dose, and should be avoided.

Hereditary Cancer Panel Test

Genetic testing for cancer risk.

31 genes tested for breast, gynaecological, prostate, bowel (colorectal), pancreatic and melanoma cancers.

Non-invasive pain-free saliva test.

NHS Genomics Medicine Service approved panel.

Testing, analysis and interpretation performed in UKAS accredited ISO15189 Genomics Laboratory.

Report interpreted by HCPC registered Clinical Scientists.

Results in 15-20 working days.

The 31 gene Comprehensive Hereditary Cancer Panel is the leading panel for the Forensic Genomics Innovation Hub. If cancer runs in your family and you’re worried about your risk of developing it then this clinically approved genetic test is worth the investment. Our hereditary cancer clinical genetics service will identify if you are genetically at an increased risk of developing one or more of the following cancers; breast, ovarian, uterine, prostate, bowel, pancreatic and melanoma (skin) cancer in a single test.

This non-invasive pain free saliva test is easy to take at home and can detect the genetic variants associated with a susceptibility to hereditary cancers. It has been expertly designed using current literature and UK national testing guidelines to ensure you receive maximum clinical value, whilst minimising uncertainty.

Your final report will provide genetic variant interpretation, and information around the implications of the results, plus any recommended actions. Full genetic counselling is available if a variant is detected to explain test results, the associated implications, identification of risk management and screening programmes, and to provide you with relevant support networks, thus reducing the risk of developing the associated cancer and aid in early cancer detection.

Prostate Cancer Genetic Testing

Prostate cancer is the most common cancer in men.

More than 52,000 men are diagnosed with prostate cancer every year.

58% of prostate cancers are caused by underlying genetic causes.

Of all the major cancers, prostate cancer is the most heritable. Men who have a close relative with prostate cancer may be twice as likely to develop the disease, while those with 2 or more relatives may be nearly 4 times as likely to be diagnosed.

Our Hereditary Prostate Cancer Panel screens the genes most commonly linked with genetic prostate cancer. The aim of screening these genes is to detect your risk of prostate cancer, get access to screening programmes and potentially catch a cancer in its early stages when it is still confined to the prostate and is potentially curable.

The panel has been designed based on solid clinical evidence, ensuring that the genes tested can provide meaningful, actionable results. Only high impact clinically actionable risk variants are reported.

Your final report will provide genetic variant interpretation, the implications of the results, and any recommended actions. Full genetic counselling is available for you if a variant is detected to explain test results, the associated implications, identification of risk management and prostate screening programmes, and to provide you with relevant support networks, thus reducing the risk of developing prostate cancer and aid in early cancer detection.

Breast and Gynaecological Cancer Genetic Testing

1 in 7 women will be diagnosed with breast cancer and 1 in 50 with ovarian cancer.

23% of breast cancer cases are preventable.

~70% of women with a faulty BRCA1 gene will develop breast cancer and 36% – 53% will develop ovarian cancer.

Breast cancer is the 4th most common cause of cancer death in women in the UK, with around 11,500 breast cancer deaths in the UK every year. There is a good chance of recovery if it’s detected at an early stage. If an immediate female family relative (mother, sister or daughter) is diagnosed with breast cancer then your risk doubles of developing breast cancer. This risk is even higher when more close relatives have breast cancer, or if a relative developed breast cancer under the age of 50.

Some types of ovarian cancer are more likely to have a genetic cause than others. It is also a cancer that is often diagnosed late as symptoms only develop late. Our Hereditary Breast & Gynaecological Cancer Panel screens the genes most commonly linked with genetic breast & gynaecological cancers. The aim of screening these genes is to detect your risk of developing these cancers, get access to screening programmes and potentially catch a cancer in its early stages when it is still confined and potentially curable.

The panel has been designed based on solid clinical evidence, ensuring that the genes tested can provide meaningful, actionable results. Only high impact clinically actionable risk variants are reported.

Your final report will provide genetic variant interpretation, the implications of the results, and any recommended actions. Full genetic counselling is available for you if a variant is detected to explain test results, the associated implications, identification of risk management and screening programmes, and to provide you with relevant support networks, thus reducing the risk of developing the associated cancer and aid in early cancer detection.

Colorectal Cancer Genetic Testing

Colorectal cancer affects the large bowel or rectum of 1 in 16 people annually.

Over 2,600 new cases are diagnosed each year in people under the age of 50.

15% to 30% of colorectal cancers are thought to be due to inherited genetic factors.

Genetic testing in CRC cancer families can significantly reduce the risk of a late diagnosis. Even though the majority of colorectal cancers are believed to be caused by dietary and environmental factors there are well documented conditions that are strongly associated with colorectal cancers. Identifying if you are a carrier of one of these genetic conditions can provide you and other affected family members with access to screening programmes, which can identify a cancer in its early stages when it is still confined and potentially curable, reducing the risk of a late diagnosis.

Lynch Syndrome (LS), Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) are caused by variants in particular genes which greatly increases the risk of developing Colorectal cancer. People with LS do not have any symptoms so do not know they have it. FAP sufferers have a large number of growths (polyps) in the lining of the bowel, which can become cancerous if ignored.

The panel has been designed based on solid clinical evidence, ensuring that the genes tested can provide meaningful, actionable results. Only high impact clinically actionable risk variants are reported.

Your final report will provide genetic variant interpretation, the implications of the results, and any recommended actions. Full genetic counselling is available for you if a variant is detected to explain test results, the associated implications, identification of risk management and prostate screening programmes, and to provide you with relevant support networks, thus reducing the risk of developing colorectal cancer and aid in early cancer detection.

Melanoma Cancer Genetic Testing

Melanoma is a type of skin cancer.

Around 16,700 people are diagnosed with melanoma every year.

10% of melanoma cases are caused by inherited faulty genes.

Melanoma is a form of skin cancer that develops from skin cells called melanocytes. Familial malignant melanoma describes families with 2 or more first-degree relatives, such as a parent, sibling, and/or child, who have been diagnosed with melanoma. Your risk of melanoma is higher if you have a close relative who has had melanoma. Your risk is highest if your relative had melanoma when they were younger than 30 or more than one first degree relative had melanoma.

An inherited condition called familial atypical multiple mole melanoma syndrome (FAMMM) increases your risk of getting melanoma. People with FAMMM have lots of moles, some of which are unusual and often different sizes and at least one first-degree relative who’s had melanoma. Some families with FAMMM are also at a higher risk of developing pancreatic cancer. Genetic testing in melanoma cancer families can significantly reduce the risk of a late diagnosis.

The panel has been designed based on solid clinical evidence, ensuring that the genes tested can provide meaningful, actionable results. Only high impact clinically actionable risk variants are reported.

Your final report will provide genetic variant interpretation, the implications of the results, and any recommended actions. Full genetic counselling is available for you if a variant is detected to explain test results, the associated implications and identification of risk management. Regular skin checks are available thus reducing the risk of developing invasive melanoma and aid in early cancer detection.

FAQs Cancer Testing

What is cancer?

Cancer is uncontrolled cell growth in an area of the body. When uncontrolled cell growth happens, it can form a tumour. Cancerous tumours can spread to other tissues which can affect how the body functions. Cancer is caused by variants in genes which normally control the growth and replication of cells. For more information please see Cancer Research UK.

What is hereditary cancer?

A type of inherited disorder in which there is a higher-than-normal risk of certain types of cancer. Hereditary cancer syndromes are caused by mutations (changes) in certain genes passed from parents to children. In a hereditary cancer syndrome, certain patterns of cancer may be seen within families.

Can I get tested if I have cancer?

Yes. The test is available to all adults over the age of 18 regardless of any known health conditions and family history. Many people get tested when they have been diagnosed with cancer to find out if they have an inherited susceptibility gene which could have resulted in the cancer developing. This information can then be used to inform other family members.

Which hereditary cancers do you cover?

We offer a range of testing to study genes associated with the most common hereditary cancers ranging from a comprehensive multi-cancer testing kit to targeted kits for breast, ovarian, colorectal, prostate, melanoma and pancreatic cancer.

Which genes are covered in the tests?

The genes covered in each hereditary cancer testing kit are included in the Comprehensive Panel list. All genes have been expertly curated and have known clinical associations with increased cancer risk.

How were the genes selected?

The genes selected in our hereditary cancer testing kits have been expertly chosen using scientific and medical literature and have been developed in accordance with national testing guidelines. All genetic variants reported will be clinically actionable and allow for informed decisions regarding risk management programmes.

Are the Ashkenazi Jewish common founder mutations associated with hereditary breast and ovarian cancer covered?

Yes the BRCA 1 185delAG (c.68_69delAG), BRCA1 5382insC (c.5266dupC), and BRCA2 6174delT (c.5946delT) gene mutations can be detected by the Comprehensive Hereditary cancer panel, the hereditary breast cancer panel, the hereditary breast and gynaecological cancer panel (and the hereditary prostate cancer panel and the hereditary pancreatic cancer panel).

Why are the targeted panels the same price as the comprehensive panel?

Because of the nature of the technology the targeted panels go through the same workflow as the comprehensive panel. The cost to process your sample is therefore the same for all panels, but only the selected hereditary cancer genes are reported back to you. It is a personal preference as to whether you would like all the genes reported, or just those associated with the hereditary cancer of interest to you.

What is Next Generation Sequencing?

Next Generation Sequencing (NGS) is a large-scale, high-throughput technology that allows the order of nucleotide bases within a genome to be studied. NGS alongside bioinformatic analysis is widely used in both the medical healthcare industry as well as within clinical research to investigate different health conditions including cancer.

How are my results analysed and interpreted?

The team of HCPC registered clinical scientists at our partner lab interpret your test results in accordance to well recognised best practice guidelines and provide you with a thorough report of your results.

What will happen to my results?

Your results will be interpreted by the team of expert clinical scientists. All results are treated as fully confidential, and we will not share any personal details or test results with any third parties without your consent. Your result may become part of your record with your healthcare provider if you wish.

What will happen to my sample after testing?

After completion of the testing process, the sample will be stored. Please refer to the consent information for further information regarding storage of DNA and data.

What do the results mean?

Detection of a pathogenic or likely pathogenic variant means that a variant has been found in a gene that increases the risk of you developing a particular cancer, but this does not mean that cancer will definitely occur. Genetic variants can occur naturally as we get older, and they are also influenced by both environmental and lifestyle factors.

Hereditary cancer susceptibility is linked to genes known as tumour suppressor genes. Our DNA contains two copies of these genes. A single functional copy of the gene is sufficient at preventing cancer from developing; however, by having a pre-existing variant in a tumour suppressor gene, the risk of both copies being inactivated through a random second fault is increased. In essence, cancer has been given a head start and if the body is found to have these inherited genetic mutations, then your chances of developing certain types of cancers are higher compared to a person who does not have these genetic variations.

If no clinically relevant variant is detected, this means that we have not found any evidence of a genetic variant that is linked to cancer susceptibility. This lowers the risk of a genetic predisposition to cancer but does not exclude it. Variants can exist in genes not covered by the hereditary cancer panel, as well as in genomic regions that fall outside of the scope of testing, such as deep intronic variants or promoter regions, but these are less common and evidence around their involvement is constantly being reviewed.

Participation in national screening programmes remains important, as well as adopting a healthy lifestyle, as the majority of cancers are sporadic.

How do we Interpret genetic variants?

Genetic variants are interpreted using the following methods: Interpretation based on ACMG (American College of Medical Genetics), ACGS (Association for Clinical Genomics Science) and CanVar-UK (Cancer Predisposition Gene Variant Database) specifications.

Using evidence-based criteria variants are described as pathogenic (disease causing), likely pathogenic, variants of unknown significance, likely benign and benign.

We standardise our interpretation using the latest clinical decision support software providing our HCPC registered scientists with the latest evidence and database resources for determining the pathogenicity of variants.

What are variants of unknown significance (VUS)?

Variants of unknown significance are variants where there is either insufficient evidence to support whether they are pathogenic or benign, or the evidence is conflicting. As these variants cannot be acted on, they are not reported. As our understanding is constantly evolving due to continued research in this field, VUS can change classification. However, if, over time, there is sufficient new evidence to support the reclassification of a VUS to pathogenic, a new report will be issued.

What do I do if a variant is found that could increase my risk of developing one of these particular cancers?

As the report is issued from an ISO15189 Accredited facility and analysed and reviewed by skilled, appropriately trained HCPC registered clinical scientists you can take your report to your GP to seek further advise on what screening programmes are available. Initial genetic counselling will be provided by our partner laboratory and they will discuss your results with you.

Can we help you?

Our team are standing by to help you with any questions or queries that you may have. We can advise you on the best test, product or service for your requirements.