Hereditary Cancer Panel

Saliva Sample

Hereditary cancer is defined as cancer that has been caused by an inherited genetic variant. Inheriting certain genetic variants does not necessarily mean that cancer will develop, but the lifetime risk is significantly increased, and it is estimated that 5-10% of all cancer cases have a genetic variant that leads to cancer susceptibility.

A genetic cause is suspected when the clinical features or family history include the following, in which case a hereditary cancer panel is recommended:

-early age of onset

-multiple primary tumours

-multifocal tumour sites

-bilateral tumour appearance in paired organs

-the same type of tumour in first or second-degree relatives or same tumour type clustering within a family

-rare tumour types

-rare tumours associated with birth defects

It is important to note that not all genetic variants that lead to an increased susceptibility to cancer are associated with a family history. At Informed Genomics, they offer Hereditary Cancer Panel to anyone over 18 years of age who is believed to be at risk of developing cancer, regardless of personal or familial cancer history.

This test is considered a screening test, not a diagnostic test. Before making any treatment decisions, all patients should discuss their results with their healthcare provider, who can recommend confirmatory, diagnostic testing where appropriate.

Standard Turnaround time: 14days (and 2 days transport via post)

Priority Turnaround time:    10days (and 1 day transport via DHL)

1. Order Hereditary Cancer Panel

2. Receive the kit

3. Watch the Precounselling video

4. Produce a Saliva sample

5.  Post the sample kit to a Post Box

6. Results via password protected email and discussion of abnormal results and recommended management plan. 

7. Abnormal results are followed up with a Genetic counsellor which is included 

Informed Genomics manufactures and processes IGL Hereditary Cancer Panels and offers an efficient and effective, quality-driven service which ensures the high performance of our hereditary cancer testing service. This is underpinned by a strong and robust Quality Management System accredited to UKAS ISO 15189:2012

Informed Genomics Hereditary screening is distributed in the UK by Biox Medical

ISO 9001 and ISO 13485 certification.

Distributed in the UK by Biox Medical Ltd

Order Hereditary Cancer Panel via RoyalMail Mail Tracked 24 to your home

Sample is posted via Post Box and shipped to UK labs. All shipping costs included.

We accept Order Hereditary Cancer Panel packages back for a full refund if it is returned within 14 days in an unused/undamaged condition. We cannot accept packages that has been damaged or used.

The kit must be used within 3 months otherwise stability and quality of the kit cannot be gauranteed and therefore void and cannot be refunded.

-Detect genetic variants associated with a predisposition to certain cancers

-Access to genetic counselling to explain test results, associated implications and support networks

-Identification of available risk management programmes and screening programmes

-Reduce the risk of developing associated cancers and aid early cancer detection

-Enables patients and family members to make informed choices  

Saliva

Saliva extraction has been set up as a less invasive sample collection method, allowing easy sample collection within the health centre or self-sampling at home.

The sampling tubes provide long-term stabilisation of the saliva at room temperature, ensuring that any delays in transit do not impact on the quality of the DNA extracted.

Our sampling kits contain:

-1x clam shell pack containing a sample collection tube with funnel and lid, plus sample collection instructions issued by the tube manufacturer

-1x consent form

-1x leakproof sample mailing pouch

-2x tamper seals

-1x tube label

-1x prepaid postage returns box

This kit can either be sent in the post to a home address or provided directly at the health centre.

Prior to sampling it is important the kit contents are checked for any signs of damage or missing components. The laboratory should be contacted for a replacement in cases of damage or missing components.

The saliva sample must be collected as per instructions in the sampling tube provided. The instructions for use are provided with the kit, however further information and advice is available by contacting us at testing@informedgenomics.com.

To ensure the quality and accuracy of the test, it is essential the following instructions are followed. Failure to do so may result in the laboratory being unable to process the sample.

Eating, drinking, smoking, or chewing gum should be avoided for 30 minutes prior to sampling as this may affect the quality of the sample and invalidate the test.

Ensure all labelling is legible and that the sample barcode is not covered.

Instructions for returning the sample to the laboratory once collected are included in the sample pack. Extra copies can be found here.

It is essential the sample is returned as per instructions and the return address and the UN3373 safety mark are not obscured.

If a repeat testing kit is required by prior to sample submission, or for any further information, please contact the team at testing@informedgenomics.com or use our contact us page on this webpage below.

Hereditary cancer testing service is delivered through Next Generation Sequencing (NGS) pipeline. IGL use hybridisation library enrichment and Illumina sequencing to generate high-quality sequencing data. An in-house bioinformatics pipeline has been developed to detect single nucleotide variants (SNVs), indels and copy number variants (CNVs).

To ensure high confidence in the results, key performance parameters have been determined through extensive validation.

-Sensitivity (ability of assay to detect true positive results) was assessed using 323 SNVs, 48 (1-28bp) deletions/insertions variants, and 20 CNVs. 100% sensitivity was observed across all variant types.

-Based on sample size the 95% CI for sensitivity for SNVs is >98%, indels >92% and CNVs >83%. This is a measure of the confidence in the assay sensitivity and is based on the number of variants tested, therefore it is influenced by the availability of control samples, which for indels and CNVs is limited.

-Specificity (ability of assay to detect true negative results) was assessed by comparing true negative nucleotides from the ‘Genome In A Bottle’ consensus sequence with data generated using our Hereditary cancer comprehensive panel. Specificity >99.99% was achieved.

-Overall positive predictive value was estimated at >97%  

-Reproducibility was assessed across 6 repeat samples encompassing 80 variants. Results showed 100% reproducibility.

How are my results analysed and interpreted?

The team of HCPC registered clinical scientists at Informed Genomics will interpret your test results in accordance to well recognised best practice guidelines and provide you with a thorough report of your results.

What will happen to my results?

Your results will be interpreted by our team of expert clinical scientists and the results will be returned securely either to yourself or to your healthcare provider dependent on your healthcare providers preferred method of return. All results are treated as fully confidential, and we will not share any personal details or test results with any third parties without your consent. Your result may become part of your record with your healthcare provider.

What do the results mean?

Detection of a pathogenic or likely pathogenic variant means that a variant has been found that increases the risk of the patient developing a certain cancer, but this does not mean that cancer will definitely occur. Genetic variants can occur naturally as we get older, and they are also influenced by both environmental and lifestyle factors.

Hereditary cancer susceptibility is linked to genes known as tumour suppressors. The body has two copies of these genes, and a single functional copy of the gene is sufficient at preventing cancer from developing; however, by having a pre-existing variant in a tumour suppressor gene, the risk of both copies being inactivated through a random second fault is increased. In essence, cancer has been given a head start and if the body is found to have these inherited genetic mutations, then a patient’s chances of developing certain types of cancers are higher compared to a person who does not have these genetic variations.

If no clinically relevant variant is detected, this means that we have not found any evidence of a genetic variant that is linked to cancer susceptibility. This lowers the risk of a genetic predisposition to cancer but does not exclude it. Variants can exist in genes not covered by the hereditary cancer panel, as well as in genomic regions that fall outside of the scope of testing, such as deep intronic variants or promoter regions.

Participation in national screening programmes remains important, as well as adopting a healthy lifestyle, as at least 90% of cancers are sporadic.

How IGL we Interpret genetic variants?

At Informed Genomics, genetic variants are interpreted using the following methods:

• Interpretation based on ACMG (American College of Medical Genetics), ACGS (Association for Clinical Genomics Science) and CanVar-UK (Cancer Predisposition Gene Variant Database) specifications.
• Using evidence-based criteria variants are described as pathogenic, likely pathogenic, variants of unknown significance, likely benign and benign.
• We standardise our interpretation utilising the latest clinical decision support software providing our HCPC registered scientists with the latest evidence and database resources for determining the pathogenicity of variants

What are variants of unknown significance (VUS)?

Variants of unknown significance are variants where there is either insufficient evidence to support whether they are pathogenic or benign, or the evidence is conflicting.

As these variants cannot be acted on, they are not reported. As our understanding is constantly evolving due to continued research in this field, VUS can change classification. However, if, over time, there is sufficient new evidence to support the reclassification of a VUS to pathogenic, a new report will be issued.

The report issued will contain all the actionable results from the hereditary cancer panel. If a genetic variant is found, the report will provide the impact, implications, and recommended actions which will be fully explained to patients via the genetic counselling process. Our genetic counsellor will also discuss health implications for patients and their families.

If no clinically significant variant is found, the report will clearly state this.

Example Report

Gaining consent for testing is an important consideration for genomic testing, as the results of testing can have a life changing impact not only for those undergoing testing but also their families.

Prior to testing, Informed Genomics Limited (IGL) will require consent to ensure that those undergoing testing have been provided sufficient information required to make an informed choice whether the test is right for them.

Delivery of pre-test counselling can be delivered either

• Directly by the health centre

Or

• By IGL pre-test counselling video

Written or electronic consent will be taken following delivery of pre-test counselling.

Genetic Material

Informed Genomics Limited (IGL) stores genomic DNA (gDNA), circulating tumour DNA (ctDNA) and RNA. The type of material stored is dependent upon the test performed.

gDNA is stored for a minimum of 3 months post testing. If consent for storage is given then, gDNA will be held for a minimum of 3 years before disposal. If a pathogenic variant is found, then storage will be extended in case it is required for future family studies. Please note, the laboratory will not store any samples indefinitely.

ctDNA is stored for a maximum of 12 months.

Genomic Data

Raw sequencing data .bcl files are retained for a minimum of 3 months before deletion.

Intermediate sequencing files such as FASTQ or BAM files are stored for a minimum of 12 months before deletion.

Result files such as VCF are stored for a minimum of 24 months before deletion.