INFORMED GENOMICS Hereditary Cancer Panel: Comprehensive Genetic Testing for Cancer Risk
Informed Genomics Hereditary cancer clinical service attempts to identify individuals who are at a higher demographic risk of hereditary cancer. We provide a variety of hereditary cancer panels to investigate genes linked to the most prevalent hereditary cancers, ranging from a comprehensive multi-cancer panel to focused panels for breast, ovarian, colorectal, prostate, melanoma, and pancreatic cancers.
To maximise clinical actionability while minimising ambiguity, the panels were professionally selected using current research and national testing criteria. Our standard turnaround time for this testing is 3-4 weeks, although there are alternatives for prioritisation.
The final clinical report summarises the test results, including various interpretations, consequences, and any recommended measures. For patients, full genetic counselling is available to explain the test results and their implications, as well as to inform necessary support networks.
How Many Attempts to Collect the Blood Sample?
- Please take note of the following in our Phlebotomy policy, Each staff member is permitted only two attempts to collect a blood sample from a patient.
- However, if a patient’s veins are difficult to access, another phlebotomist may take over the collection, or the patient will be rebooked to be attended by Our Senior Registered Manager, with the patient’s consent.
1) Informed Genomics – Hereditary Breast Cancer Panel
£599.99 Regular Price – £475.00 Sale Price
Turnaround time:15 Days (and 2 days transport via post)
- Biomarkers checked – Genes tested: ATM1, BARD1, BRCA1, BRCA2, CHEK22, PALB2, PTEN, STK11, TP53
- Further information regarding these genes can be found here
2) Informed Genomics – Hereditary Melanoma Cancer Panel
£599.99 Regular Price – £475.00 Sale Price
Turnaround time:15 days (and 2 days transport via post)
- Biomarkers checked – Genes tested: BAP1, BRCA2, CDK4, CDKN2A, PTEN
- Further information regarding these genes can be found here
3) Informed Genomics – Hereditary Prostate Cancer
£599.99 Regular Price – £475.00 Sale Price
Turnaround time:15days (and 2 days transport via post)
- Biomarkers checked – Genes tested: ATM1, BRCA1, BRCA2, CHEK22, EPCAM3, HOXB13, MLH1, MSH2, MSH6
- Further information regarding these genes can be found here
4) Informed Genomics – Hereditary Colorectal Cancer (including Lynch syndrome) Panel
£599.99 Regular Price – £475.00 Sale Price
Turnaround time: 15 days (and 2 days transport via post)
- Biomarkers checked – Genes tested: APC, BMPR1A, EPCAM3, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS24, POLD1, POLE, PTEN, SMAD4, STK11, TP53
- Further information regarding these genes can be found here
5) Informed Genomics – Hereditary Pancreatic Cancer Panel
£599.99 Regular Price – £475.00 Sale Price
Turnaround time: 15 Days (and 2 days transport via post)
- Biomarkers checked – Genes tested, BRCA1, BRCA2, CDKN2A EPCAM3, MLH1, MSH2, MSH6, PALB2, STK11, TP53, VHL
- Further information regarding these genes can be found here
6) Informed Genomics – Hereditary Breast and Gynaecological Cancer Panel
£599.99 Regular Price – £475.00 Sale Price
Turnaround time:15 days (and 2 days transport via post)
- Biomarkers checked – Genes tested: ATM1, BARD1, BRCA1, BRCA2, BRIP1, CHEK22, EPCAM3, MLH1, MSH2, MSH6, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
- Further information regarding these genes can be found here
7) Informed Genomics – Comprehensive Hereditary Cancer Panel
£599.99 Regular Price – £475.00 Sale Price
Turnaround time:15days (and 2 days transport via post)
- Biomarkers checked – Genes tested, ATM1, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK22, EPCAM3, HOXB13, MLH1, MSH2, MSH6, MUTYH, NF1, NTHL1, PALB2, PMS24, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53, VHL
- Further information regarding these genes can be found here
To get your Appointment Booked, please CLICK HERE
When is hereditary cancer testing used?
Cancer produced by an inherited genetic mutation is referred to as hereditary cancer. Inheriting particular genetic variants does not guarantee that cancer will occur, but it does greatly raise the lifetime risk, and it is believed that 5-10% of all cancer cases have a genetic variant that contributes to cancer susceptibility.
When the following clinical signs or family history point to a genetic aetiology, a hereditary cancer test is advised.
- Onset at a young age
- Number of Primary tumours
- Multiple tumour locations
- Bilateral tumour appearance in paired organs -first or second-degree relatives with the same type of malignancy or similar tumour type clustering within a family
- Rare cancer kinds
- Rare tumours linked to birth abnormalities
It is crucial to highlight that not all genetic variations that raise cancer susceptibility are linked to family history. Anyone over the age of 18 who is thought to be at risk of getting cancer, regardless of personal or familial cancer history, is eligible for the Hereditary Cancer Panel at Informed Genomics.
This test is classified as a screening test rather than a diagnostic exam. All patients should discuss their results with their healthcare physician before making any treatment decisions, as they may require confirmatory or diagnostic tests.
Laboratory processing time
15 days ( and 2 days transport via post)
How does it work?
1. Request an IGL Hereditary Breast Cancer Panel from a Miracle Inside diagnostic centre or request a mail kit.
2. Attend your Miracle Inside appointment or receive the kit at home.
3. View the Video on Precounselling
4. Collect a Saliva sample and place it in the sample container.
5. If the postal kit is not available, mail the sample kit to a Post Box.
6. Delivery of results through password-protected email, as well as discussion of aberrant results and recommended management strategy.
7. Abnormal results are followed up on with a genetic counsellor, which is included in the package.
Accreditations
CE IVD Approved – Informed Genomics manufactures and processes IGL Hereditary Cancer Panels and offers an efficient and effective quality-driven service which ensures 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
Shipping info- Postal Kit
- Order IGL Hereditary Breast Cancer Panel from Miracle Inside and have it delivered to your door via Royal Mail Tracked 24 hours a day, seven days a week.
- The sample is sent to UK labs through Post Box. All shipping charges are included.
Return and Refund Policy
- We accept Order IGL Comprehensive 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 have been damaged or used.
- The kit must be used within 3 months otherwise stability and quality of the kit cannot be guaranteed and therefore void and cannot be refunded
What are the benefits of Hereditary Cancer Testing
- Identify genetic variations linked to a higher risk of specific malignancies.
- Access to genetic counselling to explain test results, potential consequences, and support networks
- Identification of risk management and screening programmes that are currently accessible
- Reduce the chance of developing related cancers and aid in the early diagnosis of cancer
- Allows patients and family members to make well-informed decisions.
Sample Requirements
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 Postal sampling kits contain:
- 1 x clam shell pack containing a sample collection tube with funnel and lid, plus sample collection instructions issued by the tube manufacturer
- 1 x consent form
- 1 x leakproof sample mailing pouch
- 2 x tamper seals
- 1 x tube label
- 1 x prepaid postage returns box
- The saliva sample must be collected as per instructions in the sampling tube provided. The instructions for use are provided with the kit
- 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.
How are samples sequenced?
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 the 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 the 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.
Hereditary Cancer Panel Results
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 provider’s 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 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 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 by 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
- 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
Consent
- 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 on their families.
- Before testing, Informed Genomics Limited (IGL) will require consent to ensure that those undergoing testing have been provided sufficient information to make an informed choice about 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 the delivery of pre-test counselling.
Storage Information of 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.
To secure your appointment at Miracle Inside Diagnostic Scan Centre, the following payments are required:
- Deposit: A non-refundable deposit of £30.
- Phlebotomy Charges : An additional fee of £25 is charged for phlebotomy services and DHL courier service to timely deliver the blood to the laboratory.
These payments must be made when booking to confirm your appointment. The remaining balance for your services can be paid after your appointment. This ensures a smooth and efficient process for both our staff and patients.
For any questions or assistance regarding payment, don’t hesitate to get in touch with our customer service team at 01134608760
To get your Appointment Booked, please CLICK HERE
