Antegenes^® Melanoma

• It uses 28 skin melanoma cancer-related SNPs to estimate personalised risk scores.

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 screening options to help reduce the risk of developing melanoma cancer 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 melanoma skin cancer 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.

Melanoma skin cancer is the most aggressive form of skin cancer. The inherited risk of developing the disease is considered low, with only around 8% of affected individuals having a first-degree relative with melanoma. However, individual 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 for melanoma skin cancer.

Individual risk is put into context with the population background data, with estimates about the genetic risks of individuals of the same sex, age and nationality.

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

Limitations:

• Antegenes^® Melanoma test is not used to diagnose melanoma skin cancer.
• An increased risk estimated by the Antegenes^® Melanoma test does not mean that the customer will develop melanoma skin cancer during their lifetime. Also, a lower risk does not mean that the customer will not develop the disease.
• Antegenes^® Melanoma is customer-specific and does not assess the risk of the patient’s family and relatives, i.e., polygenic risk score-based disease risks may not be transmitted directly from parents to children.
• Antegenes^® Melanoma test does not analyse rare pathogenic mutations in single genes that significantly increase the risk of melanoma, such as CDKN2A, MC1R, CDK4, TP53, PTEN, BAP1, POT1, ACD, PARK2, TERF2IP, TERT, BRCA1, BRCA2, RB1, and others. Therefore, we recommend additional counselling and testing for the monogenic mutations, if:

1. 1. The customer’s biological relative has a monogenic mutation in a gene predisposed to melanoma skin cancer (CDKN2A, MC1R, CDK4, TP53, PTEN, BAP1, POT1, ACD, PARK2, TERF2IP, TERT, BRCA1, BRCA2, RB1);
   2. Many of the customer’s biological relatives have had melanoma skin cancer diagnosed;
   3. The customer’s biological relatives have had three or more tumours associated with hereditary cancer syndromes.

• The Antegenes^® Melanoma 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 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 >>