General Public FAQs
1. What is Genomic sequencing?
Cancer depends on both genetic and environmental risks. Understanding the genetic component of this disease is important to improve diagnosis and treatment. To access genetic information, one uses biological material (i.e. from tumour and from healthy tissue) to perform genomic sequencing in order to look at variations in the genome and their relation with tumour development. Each body cell contains 23 pairs of chromosomes, that contains DNA from which genes are made. This DNA is organized as chains of genetic information, including the genes. The entire DNA of a cell is referred to as the genome. Genomes are inherited across generations. This genetic information can be seen as a set of biological instructions written in an alphabet of four letters (chemical elements forming the DNA called bases). Genes contain the necessary biochemical information to instruct the cells to produce proteins and to accomplish their biological functions. The instructions “written” in each gene thus correspond to specific sequences of the four letters of the genetic alphabet. The products of our genes and the regulation of their expression ultimately determine the development of all tissues and organs, such as the brain, heart and kidneys and the biological functioning of the organism. Sequencing allows researchers to know the chain of such elements for part or the whole of the genome.
2. Why do genomic researchers need samples from cancer patients?
Genomic researchers need to extract DNA from tumour tissues and from healthy tissue for comparison, so that the genetic sequence present in the samples can be analysed. The purpose of the analysis is to discover genetic alterations that can be associated with the disease.
3. What are the foreseen consequences of genomics on medicine and treatment?
Genomic sequencing will allow researchers to know genetic factors that influence the disease and its treatment. Knowledge of the function of genes and their relation to diseases is increasing rapidly. A gene alteration identified today by genomic sequencing could be assessed as having an unknown effect but this interpretation could change with the future evolution of knowledge. Once the relationship between a given type of cancer and genetic alterations in tumour cells is established, this knowledge can be used to improve diagnosis and to conceive better therapeutic strategies.
4. What measures are taken to protect participants in cancer genomic research?
Responsible cancer genomic research strictly abides by all the legal provisions and ethical standards that govern the protection of research participants. To this aim, research ethics committees are in place to assure that all the rights of research participants are met and that their will is respected at any phase of a research project. In particular, participation in research is considered to be fully voluntary. This means that participants are free to decide whether to engage or not in cancer genomic research when this is proposed to them. If they decide to participate, they retain a right to withdrawal from the study at any moment, without having to provide a justification and without facing any consequence whatsoever of their decision. The decision of the patient to participate or not or to withdraw will in no circumstances affect their medical care. Moreover, research participants have a right to be fully informed about the use of their samples and data. This is done by a procedure called informed consent. Furthermore, mechanisms that restrict and oversight access to personal data and prevent identification of research participants (ranging from coding of personal information to anonymization) are in place to protect participants’ privacy and confidentiality.
5. What are the measures adopted to prevent unwanted use of samples and personal data?
Only uses described in the process of informed consent are being performed. When samples or data have to be used for further studies with a different aim, a new information is given to patients.
6. Will participants receive results?
As expected results within the CAGEKID project (Cancer genomics of the kidney) are not directly applicable individually to patients no individual results communication is planned. Only general results will be made available through the website of the project or other appropriate means in a language accessible to the general public when they become available. Patients can also ask their physicians about the general results of the study.
There are four possible outcomes after genomic sequencing: