Frequently asked questions

Roughly 5-10% of all cancer is hereditary and is caused by genetic variants in one gene (monogenic inheritance) or several genes (polygenic inheritance). This is called hereditary cancer.

The percentage of hereditary cancer that is due to monogenic inheritance, i.e. when one single variant increases cancer risk, varies across cancer types. These genetic variants are typically passed down from a parent to one or many children. It is common in the case of monogenic inheritance that several relatives across generations have had cancer. This is not always the case, however, as certain variants primarily increase cancer risk for women. These variants can therefore be passed down via men without presenting as cancer. In some cases, a variant may newly occur in an individual (de novo variant), but this is much less common.

Carrying a pathogenic genetic variant does not mean that you with certainty will develop cancer. It means, rather, that you have an increased risk as compared to the general population. The risk of developing cancer depends on which gene is varied, biological sex, and family cancer history. Lifestyle and other biological factors also impact risk.

Read more on our blog.

Knowing your hereditary risk provides opportunity to prevent cancer or detect it sooner. Those with hereditary cancer risk may be offered prophylactic surgery to prevent cancer, or additional cancer screening to find it early. The earlier a cancer is found, the greater the chance of survival.

Those with a pathogenic variant and who currently have cancer may qualify for a certain type of treatment. Breast, ovarian, prostate, or pancreatic cancer patients who have a variant in the BRCA gene may qualify for treatment with a so-called PARP inhibitor.

Identifying hereditary cancer in a family also allows healthy family members to get test. This is called cascade testing.

GeneMate^® is intended for those 18+ who would like to know if they have hereditary cancer risk. Pathogenic variants are very rare in the general population. The likelihood of being a carrier increases if:

• You or a close relative have been diagnosed with cancer at a young age, for example breast cancer under 40. What is considered young varies between cancer types.

• You or a close relative have had multiple kinds of cancer.
• You or a close relative have had a rare kind of cancer.
• Several relatives have had the same or related cancer types. An example of related cancers would be colorectal cancer and uterine cancer.

Several studies have shown, however, that many carriers of pathogenic variants do not meet the above criteria.

Hereditary cancer assessment via public healthcare

In order to qualify for a hereditary cancer assessment via public healthcare, an individual or family must fulfill certain criteria, such as several cases of related cancers in a family or early onset of cancer. These criteria determine 1) whether genetic testing will be offered, and 2) which genes to test. Assessments are typically initiated by a healthy family member, but the healthy family member is not primarily offered a genetic test. Rather, the relative with the earliest onset of cancer will be offered genetic testing, as they are most likely to carry a pathogenic variant. A negative test result thereby indicates with high certainty that the cancer in the family is not due to a pathogenic variant. If a pathogenic variant is identified, then healthy relatives are offered carrier testing for the identified variant. Carriers are offered additional screening or preventative measures, such as colonoscopy screening.

Some families that do not meet the criteria for testing are offered additional cancer screening based on their family history.

GeneMate^®

The biggest difference between GeneMate^® and a hereditary cancer assessment via public healthcare is that with GeneMate^® genetic testing is performed directly on the person wondering about their hereditary risk, as long as they are 18 years of age. You can be healthy or have cancer, with or without a family history of cancer. Our tests are designed to cover several hereditary cancers simultaneously and our most comprehensive test, GeneMate^® PREMIUM, covers all clinically relevant genes*. A complete family history is therefore not required in order to select which genes to test, in the way that it is required via public healthcare. Relatives of a person who tests positive can seek carrier testing via public healthcare or order GeneMate^®. Carriers as identified by GeneMate^® qualify for screening programs or preventative measures, such as colonoscopies, via public healthcare.

*Genes have been selected based on national guidelines for genetic testing for hereditary cancer.

See our full list of genes here

No. GeneMate^® only reveals if you have a hereditary risk of cancer. GeneMate^® is performed on DNA from normal, healthy cells. A mutation in normal cells indicates that these cells have a higher probability of becoming cancerous – not that they are cancerous.

GeneMate^® looks for variants associated with hereditary cancer via a method called Next Generation Sequencing (NGS). See which genes are tested here.

Yes, saliva is just as good a sample type as blood for GeneMate^®, which analyzes genomic DNA. Both blood and saliva contain lots of cells, which in turn contain genomic DNA. We test saliva because it is easily collected at home and can be sent via regular mail.

Do not eat, drink, or use tobacco of any kind 30 minutes prior to saliva collection – not even water. It is also important to collect an appropriate amount of saliva. Collecting to little or too much can interfere with testing. Watch our instructional video for saliva collection.

A typical blood sample has a higher volume (5-10 mL) than a typical saliva sample (1 mL). A blood sample has more cells, and therefore more DNA. Your doctor may want to perform multiple parallel tests on your blood and therefore need a larger sample size. Your doctor may also collect extra blood to store in a biobank for later use – with your consent, of course. One additional factor is that your doctor’s office or hospital already has an established routine for blood collection, but may not have a established or validated routine for collecting and testing saliva.

GeneMate^® is accredited by Swedac, which means that the quality of the test is just as high, if not higher, than a test performed via public healthcare. In many cases, public healthcare entities may even send samples to a lab like ours for genetic testing instead of performing the test themselves. Should your GeneMate^® test come back positive, you can bring your GeneMate^® test result to your doctor to access to additional screening or preventative measures.

GeneMate^® is accredited by Swedac according to international quality standard ISO 15189. GeneMate^® is 99.9% sensitive, >99% specific, and 99.9% reproducible for genetic variants that are one or a few DNA bases in length (so called SNV’s and small indels) or longer than fem exons. This means that the test is extremely likely to find the variants that exist (sensitivity), with an extremely low risk of false positive findings (specificity). All positive findings are verified with a second test method to eliminate the risk of a false positive result.

Benign and likely benign variants are not reported as they are considered normal and do not cause disease. A variant that can neither be classified as benign/likely benign or pathogenic/likely pathogenic is classified as a variant of unknown significance (VUS). VUS’s are likewise not reported. An exception may be made, however, in the case of a VUS that is just shy of likely pathogenic in a person with a family history that very strongly indicates that the variant may be significant. On a regular basis iCellate checks for new information that may warrant the reclassification of a VUS. Should a VUS later be upgraded to likely pathogenic or pathogenic, then iCellate will issue a new test result with the reclassified variant.

Variants between 1-5 exons in length are not reported due to test method limitations.

When your test is complete you will receive a report indicating whether or not a pathogenic/likely pathogenic variant was identified in any of the analyzed genes. In the case that a variant is identified you will be provided information regarding your cancer risk and the risk-reducing measures available to you.

If you have reported your family cancer history, then the report will also indicate whether your risk is increased based on your family history.

Your test result will be delivered via genemate.se roughly 4-8 weeks from the time that your saliva sample reached our lab. You will receive an email notification once your result is ready. Feel free to log in at genemate.se at any time to see the status of your test.

Samples are analyzed in scheduled batches, and it is not possible to make exceptions for a single sample. Therefore, we are unable to fast-track your sample.

A positive test result means that a pathogenic or likely pathogenic variant was identified in one of the analyzed genes. Your test result will provide more information about the implications of a variant in that specific gene and which risk-reducing measures are available to you.

Yes. GeneMate^® is accredited by Swedac, which means that the result is of just as high quality as if you’d been tested via public healthcare. You can bring your GeneMate^® result to your doctor to access relevant screening programs or risk-reducing measures. In some regions, such as in Stockholm, cancer screening is centralized at a few select locations. In other regions, such as Middle Sweden (“Mellansverige”), your primary care clinic will refer you to the appropriate screening programs.

While your individual test result applies only to you, it is highly likely that it will also impact your family members and biological relatives. Pathogenic variants identified by GeneMate^® are almost always inherited from a parent, who in turn has inherited it from one of his or her parents, and so on. This means that the variant will likely be present across generations and carried by several biological relatives. Siblings and children of carriers have a 50% likelihood of carrying the same variant. In rare cases the variant could have first occurred in your cells (de novo variant), which would mean that your siblings and parents would not carry the same variant. Children of someone with a de novo variant can, however, inherit the variant. It is important that you inform your relatives of your carrier status so that they, too, can get tested. This type of test is called pre-symptomatic testing, or carrier testing, and only tests for the presence of the specific variant known to exist in the family. Your biological relatives can order GeneMate^® at a reduced price to test whether they carry the same variant. Get in touch for more information about our family testing program. Carrier testing is also offered via public healthcare.

A negative test result means that no pathogenic or likely pathogenic variant was identified in the genes analyzed and that you very likely do not carry such a variant. Given GeneMate^® only analyzes variants linked to monogenic cancer syndromes, which make up a portion of but not all hereditary cancer, it is possible to have increased risk despite a negative result. This risk is determined based on an assessment of your family cancer history. For example, it is recommended that children, siblings, and parents of two first-degree relatives with colorectal cancer undergo a one-time colonoscopy at 55 years of age. GeneMate^® includes such an assessment of risk based on family cancer history.

A negative test result does not exclude the possibility of someone else in your family having a pathogenic or likely pathogenic variant. The reason for this is that genetic screening with GeneMate^® is only informative for the individual who is tested, and not for the entire family. However, if you have had cancer, particularly at a young age, then a negative result suggests that there is not hereditary cancer in the family. If you are healthy and have many relatives with cancer, then hereditary cancer in the family cannot be ruled out and we may recommend that others in your family get tested. Such a recommendation is based on national guidelines for when an individual or family should be assessed for hereditary cancer.