PreSENTIA’ Hereditary Cancer Gene Screening
Mourne Scan Clinic have now introduced an innovative new cancer gene screening service in their clinic, this genetic test is in collaboration with the specialist clinic NIPD Genetics (NIPD Genetics Molecular Laboratories Limited).
NIPD Genetics is a European researched-based biotechnology company. They are presently operating in 40 nations across the world.
NIPD Genetics is the trusted partner of healthcare professionals globally and provide pioneering genetic testing services from their CAP accredited & CLIA certified laboratory.
NIPD Genetics consists of a multidisciplinary team of world-class experts and scientists with vast knowledge and experience in the fields of genetics. The NIPD Genetics research and development department consists of scientists from the best universities and research centres in Europe and America.
This pioneering genetic test is called ‘PreSENTIA’ (this is hereditary cancer gene screening).
As cancer remains the leading cause of death worldwide, screening and early prevention are effective prevention tools in combating and lowering mortality rates.
PreSENTIA is an accurate, safe and cost-effective genetic test that provides important insight into clinically actionable gene mutations.
PreSENTIA provides healthcare professionals and patients specific information that can be used to target surveillance and necessary medical management.
Did you know that hereditary cancers can account for up to 10% of all cancers?
‘PreSENTIA’ (this is hereditary cancer gene screening), can screen for these particular cancers.
What is cancer?
Cancer is the rapid and uncontrollable growth of abnormal cells in any part of the body. It is the second leading cause of death, accounting for 10 million deaths in 2020 and responsible for 1 out of 6 deaths globally.
The World Health Organization (WHO) recommends that cancer mortality can be significantly reduced by early detection.
How does cancer develop?
Cancer can develop after genes that are responsible for keeping our body healthy undergo certain changes that cause them to become ‘faulty’. Cancer can be present in any part of the body. The most common cancers in UK are:
• Breast cancer
• Lung cancer
• Prostate cancer
• Bowel cancer
There are more than 200 different types of cancer, and each one is diagnosed and treated in a particular way.
A cancer can be:
SPORADIC: This involves mutations in the genes causing cancer to gather over time. This can be caused by risk factors like tobacco, viruses (such as HPV) and environmental factors. These particular mutations cannot be inherited.
HEREDITARY: These involve mutations that exist from birth. They can run in families and can be passed down from parents to their children.
Some examples of cancers with a possible hereditary component are listed below:
Breast cancer affects 2.1 million women every year.
• This can have a 5-10 % hereditary base
• 1 in 8 women (lifetime risk)
• This is the most common cancer in prevalence and mortality
• Early detection is crucial to enhance possible outcomes
• Symptoms can include: new lump or mass, breast swelling, skin irregularities, breast or nipple pain (discharge)
• This can be caused by family history
• Genes frequently mutated in hereditary breast cancers: BRCA1 BRCA2 and PALB2.
Ovarian cancer affects 300,000 women every year.
• This can have a 20-25% hereditary base
• 1 in 78 women (lifetime risk)
• Early stage ovarian cancer can rarely cause any symptoms
• Advanced stage of ovarian cancer may cause subtle symptoms
• Early detection is key in ovarian cancer
• There is no reliable screening service currently exists
• Ovarian cancer can be caused by family history
• Genes frequently mutated in hereditary ovarian cancers: BRCA1 and BRCA2.
Endometrial cancer affect 400,000 women every year.
• This can have a 2-5% hereditary base
• 1 in 32 women (lifetime risk)
• Signs of endometrial cancer can include vaginal bleeding, this can lead to early detection
• There are no other screening tests for endometrial cancer
• Endometrial cancer can be caused by family history
• Genes frequently mutated in endometrial cancers: MLH1, MSH2, MSH6 and PMS2
As there as genetic component to these type of cancers, genetic testing can be very beneficial.
What are genetic disorders?
Genetic disorders are caused by particular changes in DNA (theses may be known as mutations). Genetic disorders can also be caused by alterations in the structure or number of chromosomes. There may extra chromosomes in some cases.
What is genetic testing?
Genetic testing tries to identify these particular changes in chromosomes or in DNA. The results of genetic testing may confirm or rule out a suspected genetic condition. Testing can also help to determine a person’s chance of developing or passing on a certain condition.
What are Germline Mutations?
Germline mutations are changes in the DNA that are inherited from parents to their children. The genetic changes are present from birth in the cells of the body.
People with this mutation in a cancer related gene have an increased risk of developing cancer in their lifetime.
This is where PreSENTIA can detect hereditary cancer.
PreSENTIA includes a broad selection of 19 hereditary cancer panels that examine mutations in genes associated with various hereditary cancers.
Each panel focuses on a set of genes that determine someone’s chances of developing a specific cancer in the future.
The genetic changes in the genes that could cause cancer are inherited from parents to their children and are present from birth. Knowing that a person carries one of these genetic mutations can help them take preventative measures and plan a more informed clinical management. As a result, early detection of cancer can be achieved – which increases the chances of successful treatment – or prevention.
Genetic Cancer Screening NI
These hereditary cancer panels are listed below:
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Breast and Gynaecological
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BRCA1 /BRCA2
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Colorectal Non-Polyposis
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Gastric
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Renal
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Paraganglioma/ Pheochromocytoma
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Pan-Cancer
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Breast and Gynaecological – Guideline based
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Colorectal
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Colorectal Polyposis Syndrome
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Prostate
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Skin (XP -associated)
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Parathyroid
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Breast High Risk
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Colorectal High Risk
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Hereditary Myelodysplastic Syndrome/ Leukaemia
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Pancreatic
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Familial Melanoma
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Thyroid
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Each of these panels have a varying level of genes tested and associated hereditary cancer syndromes.
More detailed information on these can be found at www.nipdgenetics.com
What are the characteristics of hereditary cancers?
Hereditary cancers tend to present earlier in life and can be more aggressive than the same type of cancer without having the germline mutation.
Test Family History of Cancer in Northern Ireland.
Identifying the genetic change that could cause cancer in the future is important for people with a family history of cancer or for people suspected of having a hereditary form of cancer. This allows for relevant screening, avoiding risk factors and informing family members of their risk.
According to genetic testing guidelines for cancer*, people who might benefit from genetic testing are those that have:
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Family members with cancer in the same side of the family
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Multiple cancers in the same family member
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Family members with early cancer onset
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Family members with rare cancer types
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A family member that has been diagnosed with a genetic mutation that has cancer susceptibility
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Personal or family history of a hereditary cancer syndrome
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* Data adapted from: American Cancer Society, National Cancer Institute, American Society of Clinical Oncology and American College of Obstetricians and Gynecologists.
Benefits of PreSENTIA
• PreSENTIA is an accurate, safe, and cost-effective genetic test that provides insight into clinically actionable genetic mutations.
As cancer remains a leading cause of death, screening and early detection are so important to effectively lower rates.
• PreSENTIA provides healthcare providers and patients with early information that can be used to guide necessary future screening/scans and specific medical management.
• PreSENTIA hereditary cancer test panels can detect numerous inherited genetic changes (mutations) that could cause cancer in the future.
Why choose PreSENTIA?
• This test assesses clinically important mutations
• It has the ability to select the best panel for you, depending on your specific family history
• It is reliable and has innovative new technology
• There is short turn-around time of 3-4 weeks
• The test is safe and easy to perform, a simple buccal swab ( a swab from inside your mouth) is only required.
How does PreSENTIA help me?
PreSENTIA is a test for numerous genetic changes that are responsible for causing hereditary cancers.
If you want to know more about your cancer risks or if you have been already diagnosed with cancer and you want to know whether your cancer is hereditary, PreSENTIA can help.
Benefits of PreSENTIA:
If your PreSENTIA test provides a positive result.
• This can allow for targeted cancer monitoring – recommended screening tests at specific times to detect cancer early and when treatment is more beneficial
• Prevention of cancer by prophylactic measures
• Improved classification of the disease for better clinical management.
How is the test carried out?
• A sonographer will collect a simple buccal swab (a swab from inside your mouth) during your appointment.
• This sample will be then sent to NIPD Genetics CAP accredited & CLIA certified laboratory for analysis.
• Your results will be available in 3-4 weeks.
• You will be given an appointment to return to Mourne Scan Clinic to discuss the results.
Disclosure:
NIPD Genetics is a fully accredited state of the art genetic testing laboratory. All necessary measure are taken to ensure that testing is reliable and accurate.
There is a very small possibility of false positives or false negatives.
NIPD Patient Privacy Summary
NIPD Genetics is responsible for processing the personal data collected when the test is taken.
NIPD Genetics have appointed a data protection officer (DPO).
If you have any further queries about how your data is stored and processed, you can contact the DPO.Email address: dpo@nipd.com
Full name of legal entity: NIPD Genetics Molecular Laboratories Limited (HE 418406)
The data we collect about you
We collect, use, and store some information about such as:
• identity data
• contact data
• sensitive data (applicable medical/ clinical data)
How will we use your personal data?
• to register you as a new patient
• to conduct your test ( PreSENTIA ) and to process your results
• to contact you with your results
• to invoice Mourne Scan Clinic
How we share your personal data?
• We share your data with your referring healthcare provider, so we can notify them of your results.
• We may also share your personal data with cloud providers as we store certain information in the Cloud.
International transfers
We do not:
• Transfer
• Store
• Or process your personal data outside the European Economic Area unless your healthcare provider is located outside the European Economic Area.
Your legal rights
Under certain circumstances, you have rights under data protection laws to receive a copy of the personal data we hold about you. You have the right to erasure, (right to be forgotten) the Right to restriction of processing and the Right to make a complaint at any time to the Office of the Commissioner of Personal Data Protection.
