The NEW clinically validated NGS and bioinformatics solution for hereditary cancer testing: GALEAS Hereditary Plus – All you need to know

By Victoria Simms on February 28, 2024 | Reviewed by Celina Whalley

HEREDITARY PLUS-2

Cancer is the leading cause of death worldwide, affecting millions of people each year.1 There are over 200 different types, each with their own unique characteristics and treatment approaches.2 While their causes are complex and multifaceted, one subset gaining increased attention is hereditary cancer; constituting 5-10% of all cancer cases and arising from inherited genetic mutations that predispose individuals to developing certain types of cancer throughout their lifetime.3 Identifying individuals carrying these mutations is not only vital for effective screening and treatment, but allows life style changes to be made and may reduce any stress and anxiety that comes from not knowing.4

Genetic testing plays an essential role in identifying individuals with an increased risk of hereditary cancer. However, traditional NGS approaches often miss key copy number variants (CNVs), necessitating additional, time-consuming tests like multiplex ligation-dependent probe amplification (MLPA).5

To address this, Nonacus developed and launched GALEAS HereditaryPlus. By integrating an innovative NGS panel with co-developed advanced bioinformatics, GALEAS HereditaryPlus offers a comprehensive approach to hereditary cancer testing. Unlike traditional panels, this test excels in detecting not only single nucleotide variants (SNVs) and insertions/deletions (INDELs) but also a wide range of CNVs, eliminating the need for supplementary MLPA analysis.

This advanced NGS solution provides unparalleled precision and efficiency in hereditary cancer testing, empowering healthcare providers with comprehensive insights to tailor screening, treatment, and preventive measures for those individuals at risk.

In this blog, we answer some of the frequently asked questions from clinical laboratories looking to offer GALEAS HereditaryPlus as a test, and follow up on some insightful questions that were asked in our latest webinar 'CNVs in germline cancer analysis and current challenges’, which you can watch on-demand now.

Question 1: How do you see molecular tests like GALEAS Hereditary Plus enhancing the current standard of care pathways?

This new test has the potential to significantly enhance the current hereditary cancer standard of care pathways in several ways:

  • Improving the accuracy and precision of variant calling – By comprehensively profiling SNVs, INDELs, and CNVs in a single test, GALEAS HereditaryPlus can provide a complete patient risk assessment for hereditary cancer that can used for informed decision making, and ultimately improve patient outcomes
  • Streamlined testing approach – This test consolidates multiple assays such as NGS, microarrays and MLPA into a single streamlined workflow, saving both time and cost
  • Early detection and intervention - By accurately identifying those individuals at risk, this test can ensure that proactive interventions are taken, such as increased surveillance and/or risk-reducing surgeries
  • Personalized treatment strategies – With complete knowledge of a patient’s genetic predisposition, informed decisions regarding surgery, chemotherapy, or targeted therapies can be effectively implemented, this tailored treatment approach can offer a more effective treatment plan and can also help inform other at-risk family members who may also carry the same genetic predisposition

By providing a complete hereditary cancer risk profile for patients, GALEAS HereditaryPlus  helps healthcare providers make more informed decisions regarding screening, preventive strategies and treatment options, ultimately facilitating in improving patient outcomes.

Question 2: How will the NHS testing processes change in the next few years? 

Driven by advancements in technology, increased awareness of genetic predispositions, and evolving healthcare policies, the NHS is likely to see significant changes in testing processes in the coming years.

  • There is likely to be an expansion of genetic testing services within the NHS, as there is growing recognition of the importance of genetic testing in identifying hereditary cancer risk
  • Alongside the broader access to hereditary cancer testing services, it is expected that more people will undergo testing and there will be improved availability of testing for rarer genetic mutations
  • Multi-gene panels that simultaneously test for multiple hereditary cancer predisposition genes are likely to become more common in clinical practice
  • As genetic testing becomes more widespread, there will be a greater emphasis on integrating genetic data with clinical information to facilitate data analysis and interpretation which will inform patient care

These changes will enable more efficient and cost-effective screening for hereditary cancer predispositions and have the potential to improve early detection, treatment outcomes, and survival rates for individuals.

Question 3: What does an NGS workflow need to deliver on for it to be a single source for germline cancer diagnostics?

To be a single source, the test needs to be able to deliver accurate calling of SNV, INDELs and CNVs in a single workflow.

The approach needs to provide simultaneous analysis of multiple genes associated with hereditary cancer predisposition and therefore enable identification of a wide range of potentially pathogenic variants. The testing strategy needs to deliver in high-throughput capability and be versatile, robust and cost-effective, enabling rapid analysis of genetic data, reducing turnaround times for test results and facilitating in timely clinical decision-making.

Question 4: How important is it to have the right bioinformatic pipeline for secondary analysis?

Having the right bioinformatic pipeline for secondary analysis in hereditary cancer testing is essential for ensuring the accuracy, reproducibility, efficiency, and interpretation of results, this is for all clinical applications, as it impacts the healthcare journey taken by the patient.

Question 5: Why it is important to have the bioinformatics pipeline and panel co-developed?

Co-development of the panel and algorithms means that the test performance is fully optimized. When there is co-development, it ensures seamless integration and enhanced accuracy in variant detection. The content of the GALEAS HereditaryPlus panel has been enhanced to facilitate in effectively examining specific genomic regions thus maximizing the detection of variants while minimizing noise.

Additionally, it streamlines the workflow for healthcare providers, simplifies data analysis and interpretation for clinicians. The co-development also allows for flexibility, making it possible to accommodate evolving genetic knowledge, enabling updates to the pipeline and panel as new genes or variants emerge, ultimately enhancing the accuracy and reliability of hereditary cancer testing in clinical settings.

Question 6: How many samples does GALEAS need to set the baseline for CNV analysis?

The minimum sample number required is 20. At Nonacus we use 47 as the more samples used, the better the analysis will be, up to a certain point - likely to be in the 100s.

Nonacus has developed a control set aka a panel of normals that you can use, this means you don’t need to run a control set from your own laboratory. However, if you would prefer to have an inhouse set developed, then this is possible through collaboration with Nonacus.

Question 7: How often will the panel design of GALEAS Hereditary Plus be updated to be compliant with Panel App and NHSE test directory?

The current panel content covers 100% of the test directory. However, we continually monitor for any updates to the guidelines and we have the technology to update both the panel design and associated algorithms very readily.

Question 8: How does GALEAS Hereditary Plus compare to other hereditary cancer testing solutions?

The Nonacus hereditary cancer testing solution is the most up to date end-to-end panel plus software solution. Our technology is also future-proof as we have the capability to add new genes and regions very rapidly. Cell3 Target technology allows us to deliver seamless solutions both in terms of coverage and uniformity, a point where other commercially available options struggle.

"We were blown away by the Nonacus GALEAS data and its concordance.” -Samantha Butler, Senior Principal Clinical Scientist in the West Midlands NHS Genomic Services Laboratory.

Question 9: How many samples need to be included on an individual run for accurate CNV calling?

Due to us having developed a pre-included model, the minimum number is 1. This makes GALEAS HereditaryPlus a very convenient solution, as there is no limitation on sample number.

Question 10: Can the GALEAS pipelines be used freely?

The GALEAS software has been developed and validated alongside the hereditary cancer panel, so we will only be providing the pipelines with the GALEAS product.

Question 11: I would like to work with you on setting this up in my clinical laboratory, how do I go about doing this?

We would be delighted to work with you in doing this. Please get in touch and one of the Nonacus team will reach out to you as soon as possible.

Find out more about GALEAS Hereditary Plus here

References 

    1. World Health Organisation | who.int/news-room/fact-sheets/detail/cancer. Accessed February 10, 2024
    2. Cancer Research UK | cancerresearchuk.org/about-cancer/what-is-cancer/how-cancer-starts/types-of-cancer. Accessed February 10, 2024
    3. Anand et al. Cancer is a preventable disease that requires major lifestyle changes. Pharm Res. 2008;25(9):2097-116.
    4. Byrne et al. Lifestyle, genetic risk and incidence of cancer: a prospective cohort study of 13 cancer types. Int J Epidemiol. 2023;6;52(3):817-826.
    5. Stuppia et al. Use of the MLPA assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases. International Journal of Molecular Sciences. 2012;13(3):3245-3276.
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