Organic Aesthetics London

Genetic & Hereditary Cancer Testing

At Organic Aesthetics London, we are all about understanding you from the inside out and are working with Labs to provide tests that can help identify genetic mutations that increase the risk of developing breast, ovarian, prostate, and colon cancers, among others. The test is a simple saliva swab that can be done from the comfort of your home, and results are typically available within two weeks of receiving the test into our partner lab.

Limited Offer £449 per test

Normal price £499

We offer our sample collection service in-clinic or via home test kit.

Our home test collection kits may offer pay in instalments. Please see checkout for details of payment options.

When is hereditary cancer testing used?

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 Organic Aesthetics London, we offer our 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.

 

What are the benefits of hereditary cancer testing?

  • 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  

*Interpretation is only offered for approved genes

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Our consultations are via phone, whatsapp or in person and during your consultation we will discuss treatment options available for you.

Service at a Glance

How are samples taken?

Our hereditary cancer panels use genomic DNA (gDNA) extracted from saliva or blood samples.

For saliva samples, a complete sampling kit containing a sample collection tube and full instructions is available for self-sampling.

Turn around Time

Our hereditary cancer clinical service at Organic Aesthetics London works with accredited lab Informed Genomics and aims to identify individuals at a higher-than-population risk for hereditary cancer. We offer a range of hereditary cancer panels to study genes associated with the most common hereditary cancers ranging from a comprehensive multi-cancer panel to targeted panels for breast, ovarian, colorectal, prostate, melanoma and pancreatic cancer.

The panels have been expertly curated using current literature and national testing guidelines to maximise clinical actionability, whilst minimising uncertainty. Our routine turnaround time for this testing is around 14 days.

Reporting

The final clinical report summarises test results by providing variant interpretation, the implications of the results, and any recommended actions. 

Full genetic counselling is available for patients to explain test results and the associated implications, and to inform relevant support networks. 

Our partner lab has in house Genetic Counsellors so you are always in safe hands.

Cancer Panel Options and Extended Results

The 31 gene Comprehensive Hereditary Cancer Panel is the flagship panel. The full gene list for this panel and the other panel options are shown below:

The genes included in each panel.

Target region for all genes includes full coverage of exons and exon/intron boundaries up to +/- 20bp

Panel does not cover promoter, 5’ or 3’ UTR

CNV calling does not include VHL, HOXB13, POLD1, NF1 and NTHL1 genes

Interpretation is based on the MANE transcript

1Reporting is restricted to the truncating or frameshift variants only and c.7271T>G variants in ATM.

2Truncating or frameshift variants in CHEK2.

3Exon deletion of exon 8 to 9 of EPCAM.

4PMS2 and its pseudogene PMS2CL share high sequence homology for exons 12-15. This test does not distinguish whether variants seen in PMS2 originate from PMS2 or PMS2CL. Further testing may be required to disambiguate any variants found in exon 12-15 of PMS2.

 

Note there are extra costs for extended panels, All patients will be offered the Comprehensive Hereditary Cancer Panel and extended options are subject to availability and pre consultation in clinic.

Frequently Asked Questions

Our hereditary cancer testing service is delivered through our Next Generation Sequencing (NGS) pipeline. We use Cell3 target 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 of the Cell3 chemistry.

Sensitivity (ability of assay to detect true positive results) was 100% for SNVs/indels and >96% for CNV.  The 95% confidence interval was >98% for SNVs, >90% for indels and >87% for CNVs.

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%  

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.

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

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 of the repot is available here

Cancer is uncontrolled cell growth in an area of the body. When uncontrolled cell growth happens, it can form a tumour. Cancerous tumours can spread to other tissues which can affect how the body functions. Cancer is caused by variants in genes which normally control the growth and replication of cells. For more information please see Cancer Research UK.

Yes. The test is available to all adults over the age of 18 regardless of any known health conditions and family history. Many people get tested when they have been diagnosed with cancer to find out if they have an inherited susceptibility gene which could have resulted in the cancer developing. This information can then be used to inform other family members.

We offer a range of testing kits to study genes associated with the most common hereditary cancers ranging from a comprehensive multi-cancer testing kit to targeted kits for breast, ovarian, colorectal, prostate, melanoma and pancreatic cancer

The genes covered in each hereditary cancer testing kit are included in Cancer Panel Options and Extended Results. All genes have been expertly curated and have known clinical associations with increased cancer risk.

The genes selected in the hereditary cancer testing kits have been expertly chosen using scientific and medical literature and have been developed in accordance with national testing guidelines. All genetic variants reported will be clinically actionable and allow for informed decisions regarding risk management programmes.

Yes the BRCA 1 185delAG (c.68_69delAG), BRCA1 5382insC (c.5266dupC), and BRCA2 6174delT (c.5946delT) gene mutations can be detected by the Comprehensive Hereditary cancer panel, the hereditary breast cancer panel, the hereditary breast and gynaecological cancer panel (and the hereditary prostate cancer panel and the hereditary pancreatic cancer panel).

Next Generation Sequencing (NGS) is a large-scale, high-throughput technology that allows the order of nucleotide bases within a genome to be studied. NGS alongside bioinformatic analysis is widely used in both the medical healthcare industry as well as within clinical research to investigate different health conditions including cancer.

The team of HCPC registered clinical scientists at our partner lab 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.

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.

After completion of the testing process, the sample will be stored. Please refer to the consent information for further information regarding storage of DNA and data

Our lab is fully accredited to UKAS 15189.

 

Our partner lab certificate can be found here