Genetics and Genomics
Genetics and related sciences are helping to make great advances in healthcare. More and more diseases are being defined at the molecular level. Growing insights into the causes and progression of disease and our expertise in molecular biology offer the opportunity to improve the way we diagnose and treat disease.
A drug may work well in one person, but poorly or not in another. One person may tolerate a drug well, whereas another develops side effects.
These individual differences are largely due to our genome, the genetic blueprint that makes us unique. Thanks to new techniques, medicine is now able to take greater account of these differences – thus leading to the development of more effective, safer and better tolerated drugs
- Pharmacogenetics: describes the influence of genes on the efficacy and side effects of drugs
- Pharmacogenomics: studies interactions between drugs and the genome
- Pharmacokinetics: investigates the uptake, conversion and breakdown of drugs in the body over time
- Pharmacodynamics: deals with the influence of genes on the interactions between drugs and their molecular targets.
The great importance of small differences: SNPs
Single nucleotide polymorphisms (SNPs), the tiny differences between individual genomes, make each of us unique. At the same time, however, they are partly responsible for individual differences in the effectiveness and tolerability of drugs. SNPs have therefore become one of the most important objects of medical research.
This new technology makes it possible to examine thousands of genetic sequences simultaneously on a DNA chip the size of one square centimetre and to analyse results in a matter of seconds. Roche is using this technology in research, so that scientists can identify genes that are active in diseased tissue but not in healthy tissue. Thus, researchers can find the causes of disease and a target for a new form of treatment.
At the same time, new applications are being developed that could give DNA chips a central role in medical diagnosis.
Polymerase Chain Reaction
Scarcely any invention has altered biological science so radically in such a short period as the polymerase chain reaction, or PCR. With this technique, minute amounts of DNA can be replicated very rapidly and thereby amplified to such an extent that the DNA becomes easy to detect, study and use for any given purpose. The potential of this technique in medicine has long been known, and ever more applications are being developed.
Two new technologies have spurred the next phase of discovery: next-generation sequencing from Roche/454 LifeSciences, and high-density tiling/capture arrays from Roche/NimbleGen. Together these tools can reveal how the genomes of our patients differ from the reference human genome and how those differences impact disease risk and drug response.
Pharmaceutical, diagnostics, and biotechnology companies must invest very large sums of money to develop new products. The research tends to be difficult and costly. The risks are enormous and researchers often fail many times before having a new, successful product. Companies can only make and justify these investments if patent protection lets them get their money back and a return on their investments.
Patents are granted in exchange for an enabling disclosure of the invention to the public. The invention has to be described in a patent application which is then published by most of the Patent Offices shortly after 18 months counted from the priority date (the very first filing date).
Patents are normally granted for a term of 20 years starting with the filing date of the patent application.
Roche supports granting patent protection for genetic materials (genetic materials include DNA, genes, and gene sequences). The patent application should meet the same high standards that apply to other inventions, according to a country’s laws. This means the genetic invention must be novel, non-obvious and useful. Its function and use in healthcare must be fully described as well.
Individuals who take part in a Roche clinical trial on the safety or efficacy of a new medicine are generally asked to consider giving an extra blood sample for the explicit purpose of supporting research aimed at understanding the role of genetic differences among patients and their response to medicines.
The blood sample will be taken and stored frozen in a central facility, the Roche Sample Repository (RSR). The samples will be anonymised by a sophisticated encryption process to guarantee confidentiality and may be stored for a number of years, as scientific advances may make it feasible to address additional important questions.