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Next Generation Sequencing (NGS) in Cancer Screening & Diagnostics


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Global NGS Cancer Panel Database

Cancer screening and related prognosis and diagnosis is one of the major fields of next generation sequencing technology application. 

This database lists NGS panels targeting different genes that are associated or believed to be associated with the occurrence or higher risk for developing specific cancers.
The application of these NGS panels is not focusing on diagnostics in respect of cancer detection. The NGS based cancer diagnostics is mainly utilized in cancer screening and prevention by investigation of genetic predisposition or heritability for certain types of cancer.
Independent from cancer screening and prevention, sequencing of certain genes can help to monitor cancer progression, support cancer prognosis, and help to find the best cancer treatments.


How to Choose the Right NGS Panel for Your Personal Situation

The NGS gene panels listed on this website vary in the number of targeted genes and genetic regions. Mutations in different genes are associated with different heritable disorders or risk for certain types of cancer. For example, women with mutations in the BRCA1 and BRCA2 genes can have a risk to develop breast or ovarian cancer between 40-90 percent. Whereas mutations in other genes are only associated with minor risk for becoming cancer. The test are offered by commercial genetic testing laboratories. Most of these laboratories are integrated in or associated with specialized medical centers or hospitals.


Prior genetic testing for cancer screening a genetic consultant should always be contacted for advice. The family history, the personal health situation and lifestyle are factors that can impact decision making for testing. This information will help to choose the most appropriate test panel.


Another important fact is the availability of validation data and detailed information leaflets about the test panels. Furthermore, for most tests it is important that they are approved for diagnostics purpose and not recommend for research use only. The same applies for the software and reference data used for analysis, result interpretation, and medical recommendation. In order to streamline regulations, workflows, analysis, and validations for genetic tests based on NGS the FDA is currently working on guidelines for the development and validation of NGS based genetic tests for precision medicine.


Costs for genetic testing are as well an important consideration. The costs can vary between a few hundred Euros up to a few thousand Euros depending on the complexity and number of genes tested. In individual cases the costs are borne by the health care systems and health insurances. Please contact your health insurance prior testing. The test approval for diagnostics or the presence of sufficient validation data are important prerequisites that will support cost takeover.


Limitations of Next Generation Sequencing in Cancer Diagnostics and Medicine

Despite the great progresses in cancer genetics research and medicine enabled by NGS application the linking of certain cancer types to specific genetic markers and the finding of the most effective drug therapy is still challenging.

The discovery of new potential clinical relevant genetic markers can require years of additional drug discovery and hypothesis testing in clinical trials. It is difficult to recruit patients with rare mutations and perform single agent therapies. For certain cancer types the combinations of targeted therapies will be more effective for treatment. This makes it even more difficult to match testing results of single therapeutic agents to specific genetic markers. 

For more information on challenges in cancer medicine we recommend the review from Friedman et al. "Precision medicine for cancer with next-generation functional diagnostics".


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