Cancer is the most common genetic disease and is a very difficult disease to treat effectively.
Cancer treatment is often:
• Unnecessary
For many cancer types and patients, a surgical operation will often be sufficient to remove all tumour cells in the patient’s body. However, the complete removal of tumour cells can currently not be reliably established and many patients are therefore, as a precaution, given additional (adjuvant) treatment.
• Ineffective
Cancer drugs only work on a subset of patients.
• Detrimental to the quality of life of the treated patient
Many cancer drugs result in severe side-effects and loss of quality of life.
The development of next generation sequencing (NGS) technologies and increasing understanding of the genetic complexity and heterogeneity of cancer has spearheaded the development of precision or personalized medicine.
However, current tests rely on the sequencing of short fragments covering only a fraction of the complete sequence of genes of interest. By missing clinically relevant genetic variants, including structural changes such as gene fusions, genetic diagnostics for personalized medicine is suboptimal and ineffective. In addition, the complete sequencing of genes enables the identification of tumour specific breakpoint sequences that are the ideal basis of personalised minimal residual disease (MRD) and circulating tumour DNA (ctDNA) tests to quickly and robustly monitor response to therapy. There is therefore an unmet need for a cost-effective technology, providing the complete sequence information and enabling detection of all genetic variants relevant for therapeutic decisions.