Next-generation sequencing

Cancer is a great burden for public health worldwide, and one of the strategies to reduce this burden is by conducting cancer screening and early diagnosis. Some screening methods, such as the use of mammograms to detect breast cancer or the use of the Pap test to detect cervical cancer, are proven methods of preventing these cancers. Because all of these screening methods are specific to unique tumour types, for more extensive cancer screening among healthy individuals, a more general and cost-effective approach must be developed.

New possibilities for improved cancer care are on offer from an advanced technology already demonstrating its significance—next-generation sequencing (NGS). NGS is a high-throughput technology that can allow integration of molecular tumor profiles into clinical decision-making as part of precision oncology. It can be carried out using targeted gene panels, whole-exome sequencing, or whole-genome sequencing. This refined testing has the potential to allow for more focused and highly personalized treatment. NGS may enable more focused and highly personalized cancer treatment, with the National Comprehensive Cancer Network and European Society for Medical Oncology guidelines now recommending NGS for daily clinical practice for several tumor types.


There are questions about affordability and accessibility: the cost of sequencing in lower-income countries can be five times higher than in high-income countries because of taxes and the high cost of analysis, shipment, and infrastructure. Recent technologies have improved the speed and read length of NGS as well as improved data analysis with a decrease in price, but there is a disincentive for drug manufacturers to develop tests for a more well-defined target population because this might affect their existing sales. There are questions over privacy and confidentiality, and the ethical implications must still be defined to inform patients or their relatives about the potential risks or genes associated with future disease development. There are also questions about how to determine which drug is likely to work best on the basis of the molecular profile of a patient’s tumour, which are complicated further by varied patterns of availability on individual markets, where a suitable product might not be registered for a particular indication, potentially encouraging off-label prescription and leaving it subject to reimbursement limitations.


Policy papers

Please see the following relevant documents

An Integrated Roadmap to Embed Personalised Medicine in European Health Systems

About PerMed’s Strategic Research and Innovation Agenda (SRIA)

Shaping Europe's Vision for Personalised Medicine - Strategic Research and Innovation Agenda (SRIA)

Why Personalised Medicine (PM) is the way forward

Shaping Europe's Vision for Personalised Medicine - Strategic Research and Innovation Agenda (SRIA)

Framework for Adoption of Next-Generation Sequencing (NGS) Globally in the Oncology Area

Identifying the Steps Required to Effectively Implement Next-Generation Sequencing in Oncology at a National Level in Europe



Let’s dive into the specifics of our objectives and work together to turn our vision into reality.

EAPM defined 13 key points required to assess the current status of NGS implementation in different centres/hospitals/companies in countries around the world. These are:

  1. Use of NGS in routine practise
  2. Level at which NGS testing is organized and operationalized in the healthcare system
  3. Sharing genomic data between institutions
  4. Linking data from sequenced genomes to clinical data
  5. Funding of majority of tests for the citizens that receive NGS results
  6. Turnaround time for NGS tests that are used for patient care
  7. Types of information provided to patients/citizens before involving them in NGS testing
  8. Information provided to patients/citizens after involving them in NGS testing
  9. Amount of NGS tests conducted at certain workplaces or ordered from an external lab for research or diagnostic activities in a year
  10. Professionals that are routinely involved in molecular tumour boards (MTBs)
  11. Types of diagnoses for which NGS tests were ordered >5x in the last year
  12. Type of sequencer used for the greatest number of tests in workplace and commercially available oncology multi-gene panels used in workplace
  13. Usage of certain types of NGS tests

Data governance


Navigate through the engaging landscape of EAPM activities, where innovation meets execution!.

Expert panels,
Tackling the implementation gap for the use of Real-world evidence and the uptake of NGS into healthcare systems.

to develop roadmap for design and implementation of sustainable business models for NGS uptake in healthcare systems.