Accelerating the Development and Validation of Liquid Biopsy for Early Cancer Screening and Treatment Tailoring.

Liquid biopsy (LB) is a minimally invasive method which aims to detect circulating tumor-derived components in body fluids. It provides an alternative to current cancer screening methods that use tissue biopsies for the confirmation of diagnosis. This paper attempts to determine how far the regulatory, policy, and governance framework provide support to LB implementation into healthcare systems and how the situation can be improved. For that reason, the European Alliance for Personalised Medicine (EAPM) organized series of expert panels including different key stakeholders to identify different steps, challenges, and opportunities that need to be taken to effectively implement LB technology at the country level across Europe. To accomplish a change of patient care with an LB approach, it is required to establish collaboration between multiple stakeholders, including payers, policymakers, the medical and scientific community, and patient organizations, both at the national and international level. Regulators, pharma companies, and payers could have a major impact in their own domain. Linking national efforts to EU efforts and vice versa could help in implementation of LB across Europe, while patients, scientists, physicians, and kit manufacturers can generate a pull by undertaking more research into biomarkers.

Liquid Biopsy - Possibilities for Monitoring the Therapeutic Response in Non-Small Cell Lung Cancer.

Lung cancer is the leading cause of death from malignancy worldwide. Its heterogeneity and tumour biology make treatment considerably more difficult. The introduction of target molecules heralded the beginning of the personalized medicine which tailors medical treatments to the molecular and genetic profile of a patient. Liquid biopsy is an innovative, non-invasive method which is used both for diagnostic purposes and for therapeutic monitoring. Liquid biopsy has the potential to help manage non-small cell lung cancer throughout all stages of this cancer: screening, detection of minimal residual disease to guide adjuvant treatment, early detection of relapse, systemic treatment initiation, monitoring of response to targeted or immune therapy, and the emergence of resistance to applied treatment. At present, the study of circulating tumour DNA is used in clinical practice, but circulating tumour cells, miRNAs, exosomes, and platelets formed in the tumour also show promising results.

Application of pharmacogenetics in oncology.

The term "pharmacogenetics" is used to describe the study of variability in drug response due to heredity. It is associated with "gene - drug interactions". Later on, the term "pharmacogenomics" has been introduced and it comprises all genes in the genome that can define drug response. The application of pharmacogenetics in oncology is of a great significance because of the narrow therapeutic index of chemotherapeutic drugs and the risk for life-threatening adverse effects. Many cancer genomics studies have been focused on the acquired, somatic mutations; however, increasing evidence shows that inherited germline genetic variations play a key role in cancer risk and treatment outcome. The aim of this review is to summarize the state of pharmacogenomics in oncology, focusing only on germline mutations. Genetic polymorphisms can be found in the genes that code for the metabolic enzymes and cellular targets for most of the chemotherapy drugs. Nevertheless, predicting treatment outcome is still not possible for the majority of regimens. In this review, we discuss the most comprehensively studied drug-gene pairs - present knowledge and current limitations. However, further studies in larger groups of cancer patients are necessary to be conducted with precise validation of pharmacogenetic biomarkers before these markers could be routinely applied in clinical diagnosis and treatment.