FAQ

A genetic variant, also referred to as a mutation, is a permanent alteration of the DNA sequence. Many variants do not negatively impact health, while others drive disease development. Germline variants are inherited from a parent and are present in all cells. Somatic variants are acquired during a person’s lifetime due to environmental factors or errors in DNA replication. Somatic variants are present only in certain cells and are not inherited.

Next-generation sequencing (NGS) is a high-throughput DNA sequencing technique that allows sequencing of large portions of the genome quickly and cost-effectively. iCellate uses NGS in its liquid biopsy services.

According to the Precision Medicine Initiative, precision medicine is "an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment and lifestyle for each person." iCellate uses precision medicine through analysis of an individual’s genetic variations as they relate to cancer development.

iCellate offers a range of services to support healthy individuals, high-risk individuals, and cancer patients at various stages of disease.

• GeneMate^® is intended to assess hereditary risk for cancer in healthy individuals.
• CellMate^® is intended for organ-agnostic cancer screening in asymptomatic patients and early cancer detection in high-risk patients.
• OncoMate^® is intended to support physicians in treatment selection for late-stage, solid-tumor cancer patients.

For more information on each service, check out the service-specific FAQ’s.

iCellate is accredited by Swedac according to the quality standard ISO 15189 and registered as a healthcare provider with IVO (Inspektionen för vård och omsorg).

iCellate’s liquid biopsies are based on the sequencing of genetic material, or DNA. Our DNA holds the instructions for our development, growth, and functioning. Our DNA is made up of functional units called genes.

Liquid biopsy is minimally invasive and does not require surgical intervention. Liquid biopsies are easily repeatable and can be used for serial monitoring and other applications where tissue testing is not a viable option.

A liquid biopsy is a blood test involving the analysis of tumor material circulating in the blood stream. In addition to blood tests, iCellate includes certain saliva tests in its liquid biopsy offering. A liquid biopsy can be used to determine inherited cancer risk, detect cancer or relapse early, plan treatment, and determine whether a treatment was successful.

GeneMate^® is a service intended to identify if an individual has an increased risk for certain types of hereditary cancer. The service is composed of a genetic test and an assessment of family cancer history (when provided). The genetic test serves to identify gene variants (mutations) linked to an increased risk for cancer, while the family cancer history assessment serves to investigate signs of hereditary cancer in the family’s history. Read more at genemate.se.

Roughly 5-10% of cancer is hereditary and can be explained by pathogenic genetic variants (mutations) that lead to an increased risk for cancer. This is called hereditary cancer. These variants are typically inherited from a parent, in which case it is common that several relatives have had cancer. In rare cases these variants are newly occurring rather than inherited – the variant is then referred to as de novo.

Having a pathogenic variant or an increased hereditary risk does not mean that you will certainly develop cancer, but rather that you have a higher risk for developing cancer than someone without such a variant. An individual’s cancer risk is also impacted by lifestyle and other biological factors.

Knowledge of hereditary risk provides opportunity to reduce your cancer risk or detect cancer sooner. Individuals with an increased hereditary risk for cancer can participate in screening programs to detect potential cancer early. The earlier a cancer is detected, the greater the opportunity is for effective treatment. For certain cancer types, risk-reducing surgery may an alternative to significantly reduce your cancer risk.

Your carrier status (i.e. whether or not you carry a certain genetic variant) may even be relevant for therapy selection should you develop cancer.

GeneMate^® is intended for adults 18 years of age or older who would like to know if they have a increased risk for hereditary cancer. Please note that pathogenic variants are rare in the general population. The probability is increased, however, if any of the following are true:

• If you or a close relative have been diagnosed with cancer at a young age, such as breast cancer before 40. What is considered a young age varies by cancer type.
• If you or a close relative have had several cancer diagnoses.
• If you or a close relative have had a rare cancer diagnosis.
• If several close relatives have had the same or related cancer diagnoses. Colorectal cancer and uterine cancer, for example, are related cancer types.

Research shows, however, that many individuals with pathogenic variants do not meet these criteria.

Questions about the test or your family history of cancer? Email support@icellate.se (Sweden) or support.uk@icellate.com (UK) to get in touch with our clinical team.

GeneMate^® is intended as a one-time analysis.

The test component of the GeneMate^® service is an analysis of genomic DNA (gDNA) via Next Generation Sequencing (NGS). gDNA is inherited from your parents and is present in all cells. For more information visit genemate.se.

GeneMate^® is performed on a small sample of saliva. Upon ordering GeneMate^®, you will be sent a small saliva collection kit for at-home sample collection. Instructions and materials for sample return are included in the kit.

Yes, saliva is just as good a sample type as blood. GeneMate® analyzes genomic DNA, which is present in all cells of the body. Both blood and saliva have plenty of cells, and therefore genomic DNA. Saliva collection is non-invasive and can be collected in the comfort of your home. Quite simply, it’s more convenient.

When the test is complete, you will receive a test report indicating the presence or absence of pathogenic or likely pathogenic variants in the genes analyzed. Pathogenic and likely pathogenic variants are those known to be capable of causing disease. If such a variant is identified, you will also be provided information regarding your increased risk for certain types of cancer. Please note that the risk is an estimation based on large clinical studies. Individual risk may vary based on environmental or lifestyle factors, or family history of cancer.

If you have provided information about your family history of cancer, your report will indicate if your cancer risk may be increased based on this family history.

GeneMate^® results are delivered via our secure online results portal within about 4-8 weeks (Sweden) or within 8 weeks (UK) from the time we receive your saliva sample. Login here to check the status of your test.

A positive result means that pathogenic or likely pathogenic variants were identified in the genes sequenced. Your results report will include instructions for scheduling a consultation with one of our genetic counselors. The counselor will further explain what your result means for you and next steps. If you reside in Sweden, we will help you get connected with a cancer genetics clinic for continued care with regards to your cancer risk. If you reside in the UK, you will be offered an additional consultation with a GP.

Your GeneMate^® test result is only directly applicable to you but may have implications for your family as well. Variants found through GeneMate^® are most often inherited from a parent. In this case, your siblings have a 50% chance of carrying the same variant. Your children also have a 50% chance of carrying the variant. In rare cases the variant may be newly occurring (also called a de novo variant), in which case your parents and siblings are not carriers. Children, however, can inherit the variant.

Upon visiting a cancer genetics clinic, the inheritance pathway will be investigated to determine if and from whom the variant was inherited, and which of your relatives should be tested. These relatives may be offered a carrier test, a test that looks specifically for the variant you carry.

A negative result means that no pathogenic or likely pathogenic variants were identified in the genes sequenced. This means that, based on current clinical information, you do not have a significantly increased risk for the cancer types covered by the particular service you chose.

It is possible, however, for your cancer risk to be moderately increased based on your family history of cancer. A strong family history of cancer may indicate further investigation of your hereditary risk by a cancer genetics clinic based on this family history. Our genetic counselor is available to walk you through next steps.

A negative result does not rule out the possibility that one of your relatives may carry a pathogenic variant.

iCellate has analytically validated its test in accordance with best practice, demonstrating 99.9% sensitivity, >99% specificity, and 99.9% reproducibility. This means that we are extremely likely to find the variants that exist (sensitivity), with an extremely low chance for false positive findings (specificity).

All risk assessments are based on clinical studies. References are provided in each results report.

Visit genemate.se to order if you reside in Sweden, or genemate.co.uk if you reside in the UK.

Get in touch! Send us an email at support@icellate.se (Sweden) or support.uk@icellate.com (UK), and we will be glad to answer any questions you may have.

CellMate® is a service intended to determine the presence of Circulating Tumor Cells (CTC’s) circulating in the blood. CellMate® is currently in development, but use cases include (but are not limited to) cancer screening, early detection of cancer, and prognostication – all via a blood test.

A circulating tumor cell, or CTC for short, is a tumor cell that has left the site of the tumor and entered the lymph system or blood stream. Research shows that CTC’s may circulate in the blood up to 12 years before clinical cancer symptoms arise, making them a great analyte for radically early detection.

CellMate® is designed to detect CTC’s from solid tumor types. CellMate® is not designed for hematological malignancies (blood cancers).

Cancer screening is looking for cancer in asymptomatic individuals.

Early detection of cancer is the diagnosis of symptomatic patients as early as possible. The earlier a cancer is detected, the greater the chance of successful treatment, and ultimately becoming cancer-free.

CellMate® is currently under development and not yet available for clinical use. It is, however, being studied via clinical research. If you are curious about participation in an ongoing clinical study, or would like to conduct research using CellMate®, get in touch at info@icellate.se.