A small DNA revolution
Researchers know now to almost 30 times as many disease causative genes that ten years ago. The development creates tremendous opportunities for future health care, says geneticist.
The body's ability to fight disease is largely determined by what kind of individual genetic variations, we are endowed with.
The body's ability to utilize and tolerate drugs varies from person to person.
- So much of what is being done in health care today, based however on rough categories of patients, sack diagnoses and treatment at the group level.
- The result is often ineffective treatment and many side effects, says Day Undlien, professor of medisk genetics at the University of Oslo.
He is one of the front figures for the introduction of the opposite: personalized medicine, often called tailor-made medicine. Technology has made it possible to find out more and more of our genes.
The result will be better diagnosis and better treatment of hereditary diseases and for more common diseases, according Undlien.
Tests several rare diseases
Ten years ago, researchers identified 100 genes that alone can trigger inherited disease. Now scientists know to 2850 such genes.
- We know that these genes trigger various hereditary diseases if they are damaged. Here we are talking about diseases that always caused by a fault in a particular gene. By developing tools that look specifically at these, it becomes possible to make any diagnosis, he explains.
Until a few years ago included the testing of rare diseases in newborns mainly metabolic disease and Foaling disease, which causes mental retardation if not detected and treated soon after birth.
Today, newborns are tested for more than 20 hereditary diseases, there are also treatments.
- Most of the 2,800 genetic, it is not immediately easy to develop treatments for, but we have come much closer, say Undlien.
Your genome for $ 100
In 2001, researchers presented the first draft of the human genome, that is all the genetic information encoded in our DNA. The genome consists of between 20 000 and 30 000 genes.
There are only tiny differences in the genetic material that makes us human is different, but these differences can be crucial if we get a disease or not.
- So far it has to map the genome of individuals have been insurmountable resource intensive and thus acted as a hindrance to generating the knowledge you need. But technological developments opens up new opportunities, says Undlien.
- Our ability to study the DNA molecule has undergone a small revolution in the very last years, we have technology that is many million times more effective than a few years ago. Many imagine that such a survey if not many years to reach a price of under $ 100.
Undlien and others who work with medical genetics, often face patients with evidence of rare genetic disorders that they are unable to find the genetic cause and not know where to look.
- Now the technology is so powerful that only we have a couple of patients in a family, we can sequence all of their genes.
- At Oslo University, we are conducting this preliminary in a research project, but I'm sure it will eventually become a permanent offer to selected groups of patients, he said.
He also believes most people will eventually be able to take a genetic test at an early stage in life and examine the entire gene. Then we can see for ourselves that the information is stored with your doctor so that health care will always have all of our genetic data available.
Complex common diseases
But what about more complex genetic diseases, such as the classic diseases such as diabetes, heart disease and osteoporosis?
There are usually several genes that play a role, in combination with the environment, and it is usually not talking about genetic defects, but the normal variation of genes that are important.
Today scientists know to 1100 such vulnerability genes, compared with only a dozen for about ten years ago. These gene variants are found by the researchers have investigated and compared the variations in all genes in larger groups healthy and sick people to look for patterns that are associated with disease
- The risk associated with each gene variant predisposing to the development of disease is much lower here than for the strongly hereditary diseases.
- The effect of variation of each gene will be so small that it often does not provide information that your doctor can make in treatment. So far few of those taken into routine use in diagnosis, said Undlien.
From his own research career, he has a favorite example of the tailor-made medicine can do. The story begins with a three year old boy who is 42 pounds, almost three times as heavy as their peers.
Four years later, the boy instead of putting on such children do when they grow, gone down ten pounds and become slim. What has happened?
A group in England researching his way to the fault lay in a gene that controls production of a hormone that gives satiety. The boy was missing this important hormone, resulting in overeating and severe obesity.
- By making this hormone in the lab and give it to the boy in the form of daily injections, the weight completely normalized, explains Undlien.
In collaboration with researchers in England found his research group specific defects in another gene that also means that patients do not have normal satiety.
Over the past decade, researchers have found that in a hundred with severe obesity, the explanation is wrong in a single gene.
Many envisioned that the hormone that regulates the feeling of fullness, could revolutionize the diet industry. But so simple was not.
- This is a classic illustration that there is a solution for some, not a solution for others. For the little boy was perhaps lifesaving. Most of us produce this hormone, however, and adding more of it, has little effect, says Undlien.
Saliva Test to Iceland
New technologies and opportunities also offer new challenges. When huge amounts of data examined by advanced methods, one can easily find things that basically are not aimed to find. What do you do then?
- Many NOK think that if a disease can be prevented, the patient will want know about it, but the opinions will be more shared if it is not possible to prevent. People may not know is a fundamental principle.
- These are challenging issues that the medical community must find good solutions, says Undlien.
He believes, however, it is important to be able to have two thoughts at once and do not believe that the challenge can be solved just by being restrictive. We must take into account all the opportunities people might miss if we do not take this for use in health care, and we must look at what is happening outside the country.
- It pops up offers abroad that we can not control - we can not deny someone to send a saliva sample to Iceland to be checked for disease or disease risk.
- We run the risk that our legislation destroys the possibility of building up an offer that is better and where people are followed up properly, determine Undlien.