The Process: from purchase to results
Once you purchase your test kit, you will receive an email with a link to provide your consent to testing and fill in a lifestyle questionnaire (the PRS form).
Kindly note that if the questionnaire is not filled out, your sample will still be analyzed, however, we will not be able to provide you with any personal lifestyle advice.
You will also receive a sampling kit which is to be shipped to our laboratory using the provided DHL bag.
All notifications and correspondence will be made by email.
Frequently Asked Questions
You should choose this test if you are healthy and would like to estimate your genetic risk for cancer and receive personalized advice to mitigate this risk by modifying your lifestyle.
If you have a strong family history of cancer (more than one first-degree relative, i.e. biological parents, siblings, or children) or have been affected by cancer at a young age, you should consider alternative genetic testing and genetic counseling. Contact us to guide you.
This test should only be performed on consenting adults and is not intended to be used, and has no utility, to assess risk in any of the following situations: children under the age of 18; in vitro fertilization-embryo selection; carrier screening for family planning.
- Personal data, including genetic (biological) sex, ethnicity, and date of birth, will be collected to calculate sex- and ethnicity-specific risk factors and select the best age-matched population to use as a reference for the PRS calculations.
- Diet & lifestyle data will be collected to estimate further risks based on these factors, all of which may have an impact on your lifetime risk of developing cancer.
- Other gender-specific data and family history will be collected to estimate your risk of male- or female-related cancers and provide you with tailor-made genetic testing advice based on your family history.
- The “Results & Interpretation” sections will contain your polygenic risk score as a numerical result, together with its translation into relative risk, e.g. Your risk of developing cancer is 1.9 x that of the general population
- The “Recommendations” section will contain lifestyle advice tailor-made to you, based on the lifestyle factors from the questionnaire and the PRS result. For breast & ovarian cancer, a CanRisk score is also provided. This tool utilizes a Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) to provide you with your risk of familial breast and ovarian cancer and subsequent advice for genetic testing or counseling if needed.
Common genetic variants called SNPs found in your DNA, that is extracted from your buccal sample, will be compared to the SNPs in the general population, by means of specialized software developed by our partners, Allelica, Inc., to generate the polygenic risk score. The polygenic risk score is expressed as standard deviations from the average PRS (z-score), so a PRS value of 1.3 means that the individual’s PRS is 1.3 standard deviations higher than the average person, who would get a PRS score of 0. The risk calculations are based on a hazard ratio per standard deviation (HRsd) estimate derived from a Cox proportional hazards model estimated from international biobank data.
To arrive at the relative fold-change risk (i.e. X x risk in the general population), we first calculate the absolute risk for the patient and a person with the average PRS of the same age and nationality. This calculation incorporates country-specific background information – age-specific all-cause mortality (i.e. death by any other cause than the condition), the incidence of the condition, and the mortality from the condition. These risks are integrated over a 10-year time horizon into 10-year absolute risk estimates using the methods of survival analysis. For more information about this, see Choudhury et al. (Pal Choudhury P, Maas P, Wilcox A, Wheeler W, Brook M, Check D, et al. PloS one. 2020;15(2):e0228198). Finally, the ratio of these two absolute risks (risk for the patient/risk for the average person of the same age and nationality) is given as the relative risk.
- PRS scores are not intended for the diagnosis of any disease or health condition. An elevated risk estimated by the PRS does not mean that the individual will develop the condition during their lifetime, and a moderate or low-risk score does not mean that the individual will not develop the condition. Depending on the condition, the PRS analyses take into account a range of tens to millions of common genetic variants that have been robustly associated with the disease of interest. However, there may still be additional, as yet unidentified, genetic variants involved in genetic risk. In addition, this test does not take into account either known or unknown pathogenic or likely pathogenic variants in known disease susceptibility genes. These may be present but unidentified and may additionally contribute to an individual’s genetic risk of developing a disease.
- These PRS tests are based on up-to-date scientific data. However, the field is constantly evolving, and the estimated risk, together with subsequent clinical recommendations, may change as additional information becomes available. Also, different PRS models may give different estimates of risk for the same trait due to different genetic variants assessed and their weights on the estimation.
- This test should only be performed on consenting adults and is not intended to be used, and has no utility, to assess risk in any of the following situations: children under the age of 18; in vitro fertilization-embryo selection; carrier screening for family planning.