Antegenes^® Women

• 2803 genetic variants associated with breast cancer
• 91 genetic variants associated with colorectal cancer
• 28 genetic variants associated with melanoma

A personalised results report will be sent to the customer and made available to their clinician* (upon the customers consent)**.

There are two possible result outcomes from this test:

1. A lower risk test result
2. An increased risk test result

Every person taking the test will be sent a clinical support video explaining what their test results mean and the next steps to take.

In the case of an increased risk result, guidance is provided on what the customer should do next. This may include talking to their clinician about earlier cancer screening options to help reduce the risk of developing the cancers tested for or seeking treatment earlier to help prevent mortality from the disease.

The results report will include the following:

1. Polygenic risk score: A score derived from thousands of genetic variants.
2. Personal risk: This shows an individual’s risk of developing the cancer tested for over the next 10 years, compared to someone of their age in the general population.
3. General population comparison: A number showing the average risk that someone of a similar age in the general population has of developing prostate cancer.
4. Relative risk: A number which compares your risk to that of the general population.

No personal medical guidance is provided in the test results report. This should be obtained from the customer’s clinician.

*Results reports are only sent to the customers clinician when a test is organised through a GP/clinic/hospital.
**No results information is shared with an employer or insurance provider.

Who can order this test from Everything Genetic? Healthcare providers, employers and individuals.

Turnaround time: 4 weeks from the receipt of a sample in our laboratory.

Preferred specimen: Non-invasive simple saliva sample using Oragene OG-610.

Alternative specimen collection: None.

Delivery information: Test kits will be sent out by using a Royal Mail Tracked service, unless otherwise arranged.

Pre and post-test clinical support is a mandatory requirement for all customers taking the test.

Pre-test support is provided through a clinically guided informational video which explains:

• What the test is for
• Why customers should take the test
• What it does and doesn’t test for
• What the possible results are from taking the test

Following the test, customers will be provided a further clinically guided information video, depending on their level of risk.

In the case of an increased risk result, guidance is provided on what the customer should do next. This may include talking to their clinician about earlier screening options to help reduce the risk of developing common cancers or seeking treatment earlier to help prevent mortality from the disease.

For both pre and post-test clinical support, the customer has the option to arrange a telephone call with our Medical Director, Dr James Mackay.

Antegenes^® Women uses genome-wide single nucleotide polymorphisms (SNPs) to evaluate individual polygenic risks of developing breast cancer, colorectal cancer and melanoma.

It combines three tests:

• Antegenes^® Breast
• Antegenes^® Colorectal
• Antegenes^® Melanoma

Antegenes^® Breast
The average woman has a 12% chance of developing breast cancer over her lifetime. Most cases are not inherited, but around 5-10% of breast cancers are due to a pathogenic variant in a disease-causing gene.

This test uses data from 2803 genome-wide single nucleotide polymorphisms (SNPs) to evaluate individual polygenic risks of developing breast cancer. It combines the number of risk-increasing and lowering SNPs in the genome and their effects, which are summed up to form an overall estimate. Each SNP has little impact on the overall risk of breast cancer but combining the effects of individual SNPs contributes to a clinically significant assessment of the total risk.

Antegenes^® Colorectal
Genetic testing for colon cancer is important given that it is the third most diagnosed cancer, and can be caused by pathogenic variants in MLH1, MSH2, MSH6, PMS2 and EPCAM.  Antegenes^® Colorectal is used to determine the carrier status of genetic variants that affect an individual’s risk. This is combined into a polygenic risk score, with the 10-year probability of developing the disease.

Antegenes^® Melanoma
The inherited risk of developing melanoma skin cancer is considered low, with only around 8% of affected individuals having a first-degree relative with the disease. However, individual melanoma skin cancer risk can be very high, even if there is no family history.

When testing for the genetic risk of developing melanoma skin cancer, we analyse a wide genome panel consisting of 28 genes associated with a hereditary predisposition to the disease. These genes were selected based on available evidence to provide the most comprehensive test targeting.

Antegenes^® Women is a registered CE-marked medical device (IVD) developed by the Antegenes Medical Laboratory.

Limitations:

• Antegenes^® Women test is not used to diagnose breast, colorectal or melanoma skin cancer.
• An increased risk estimated by the Antegenes^® Women test does not mean that the customer will develop breast cancer, colorectal cancer or melanoma skin cancer during their lifetime. Also, a lower risk does not mean that the probability of developing the diseases is zero.
• Antegenes^® Women does not assess the risk of family and relatives, i.e., polygenic risk score-based disease risks may not be transmitted directly from parents to children.
• Antegenes^® Women does not analyse rare pathogenic mutations in breast, colorectal or melanoma skin cancer genes.
• This test is based on the most up-to-date scientific data, which may be supplemented and changed in the future as additional information becomes available. The field of genetics is constantly evolving, which may lead to changes in risk assessments over time, as well as changes in test selection recommendations and clinical recommendations.
• Different polygenic risk scores that predict risks of the same trait may provide different estimates. This is due to differences in genetic variants included in the models and their weights.
• The results of this test should be applied in context with other relevant clinical data, and other risk factors.

Validations and papers

View all validation documents and papers for this genetic test here >>