Remember Genetic Testing Only In The Hands Of Experts
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A proliferation of companies that invite you to take genetic tests to assess an individual's risk of getting sick. But the answers that you get only open new questions

As a sort of crystal ball, genetic tests promise to reveal all the hidden secrets to people in the DNA and to quantify their risk of getting sick. These tools are the result of the most advanced research into the causes of diseases (primarily cancer, neurodegenerative diseases and cardiovascular diseases) and as such constitute a diagnostic aid in the future but, according to experts, have spread in an excessive and unchecked. Now we have companies that promise some sort of license of eternal youth through analysis of genes. And the Internet has become an easy means of access controls that should be entrusted to accredited facilities and safe.

Behind these seemingly innocuous actions (at the bottom of that risk we run in the laboratory to send a simple swab of saliva or blood sample?) Actually represent dangerous misunderstandings. Although it is true that medicine has identified some genes that increase the predisposition to cancer of certain diseases, it is also true that looking is useful only in selected cases, as explained by a scientific director of the National Cancer Institute: "It is should only proceed if, after careful evaluation by an expert geneticist there are indications to the genetic test. "

One name different objectives

Under the big hat of genetic testing hide in reality tests for different purposes. There are some who are looking into the DNA of the subject the presence of some genes that are indicative of disease already in progress. An example is the cystic fibrosis gene, which is searched in infants who have some familiarity with suspicious symptoms. Other genes, such as some of those that cause familial colon cancer (familial adenomatous polyposis gene), the disease but do not indicate a chance of getting that, with age, to nearly 90 percent. Not a certainty, then, but almost.

Know they are carriers of these mutations in the DNA, however, is important because the preventive measures (frequent use of colonoscopy and removal of polyps and other precancerous lesions) are effective in most cases. If you go to look for genes that indicate a risk of getting cancer lower (such as the genes BRCA1 and BRCA2 breast or ovarian cancer - indicating a risk between 50 and 80 per cent - Ret gene or cancer of the thyroid), knowing it is very useful because it gives an indication to increase the frequency of checks, starting at a young age, to adopt healthy lifestyles, but only the preventive removal of the organ (breast, ovarian or thyroid) could, often at great cost, to provide reasonable assurance to avoid cancer.

"When the percentages are even lower, or examined the gene is involved in several types of cancer, the usefulness is even lower,". While in the cases described above it is genes that are able, alone, to determine the disease, other genetic analysis shows only a general susceptibility to disease. "This is what happens with the so-called multifactorial diseases, where not only are multiple genes involved, but it is necessary, because the disease appears, there is also a particular interaction with each other and the environment," explains the expert.

Questions of ethics

The candidates for susceptibility testing come from families where the disease has appeared more frequently than average, and a very early age. "Because we do not know all the possible genetic damage in some diseases (including different forms of cancer) would not make sense to screening people without symptoms or no cases in the family," he insists Pierotti. In these cases, a negative result only means that the risk of that individual is similar to that of the population mean, while a positive result indicates an increased risk, although not always easy to quantify.

"The figures that are given by genetic counselors (plus 20 plus 30 percent) are the result of our epidemiological knowledge, but they are also, of course, only indicative, by definition," says the expert. The doubts of the experts on the spread of indiscriminate genetic testing is not only practical and scientific aspects more closely, but also ethical ones, as explained by John Boniolo, professor of philosophy of science at the University of Padua and director of the PhD in Sciences Life and Ethics at the European School of Molecular Medicine IFOM: "Genetic tests are not comparable to other types of diagnostic tests because in addition to providing information on the subject that you submit, we also give family members and relatives."

If a woman discovers, for example, be a carrier of the BRCA gene for breast cancer, should alert the sisters? And if they prefer not to know? "Is there a right to know but also a right not to know" continues Boniolo. "It is difficult, however, that the news of a positive test escapes to close consanguineous, which are thus facing a situation where they are not prepared. Also because there is no certainty: there are pairs of twins, both positive for the BRCA gene in which the cancer has occurred in a sister but not the other. "

What does it mean risk

There is also a problem of interpretation of the report, especially if it is not a geneticist to present to the patient. "Not all are familiar with statistics, and instead some knowledge is essential to understand the real extent of the information that you receive. For example, have an increased risk of 30 percent of cancer has a different meaning if the disease is very frequent, or if, instead, is relatively rare.

The 30 percent more than a small number means a limited increase in absolute terms, but consistent if the disease is widespread, "said Boniolo. Bioethics must also take into account the psychological aspects: "It makes sense to do a genetic study if we can offer the patient something to limit the damage, otherwise it is a matter to consider carefully" continues Boniolo. "A typical example is that of dementias such as Alzheimer's: There is currently no way to stop the progression of the disease or to prevent it. Do a genetic test, then, is ethical only if the person has special needs, for example to put their affairs in order or in private life in anticipation of a disease, however, may not occur. "

Protecting the privacy

The results of DNA analysis may be particularly sensitive and therefore it is obvious that patients wish to ensure maximum privacy. But is it really so? Centers are the most serious special protocols for storage of medical records containing sensitive data such as genetic, including encryption systems. You can not say much for the information traveling on the web: the United States there have been cases of employers or insurance companies who have consulted the genetic map of a person without asking for permission. The reasons are obvious: because they insure or hire someone who has a high risk of getting sick?

The Italian law, in this sense, is still incomplete, as confirmed by John Boniolo: "No one disputes, for example, legal databases containing the DNA of individuals who were on the scene of a crime, perhaps randomly, and not even know that their biological material has been filed. " Not to mention the so-called 'DNA theft' of the possibility that, rather simple to analyze the DNA of others without their knowledge. The most egregious cases of news relating, for example, who are engaged to analyze the genes of future wives to see their risk of getting sick or fathers who, fearing to be the biological parents of their children, who carry out paternity test without the consent his wife.

Many tests, few counseling

According to a census conducted by the Society of Human Genetics (SIGU), in three years, from 2004 to 2007, genetic tests carried out increased by 30 percent. And just about tests carried out in laboratories registered , excluding, therefore, who has resorted to DIY centers via the Internet or regenerative medicine that are not counted as part of immunogenetics and cytogenetics laboratories . In the face of more than 560 000 tests, genetic counseling were just 70,154, a figure troubling, because it means that patients have not been adequately accompanied the decision to take the test and the initial understanding of the result. Facilities that claim to have the equipment to do genetic testing is in constant growth and unjustified: there are about three times more numerous than in France, far greater. To avoid that people are easy prey to a widespread fashion, but of little use, the SIGU, in agreement with the Ministry of Welfare, will launch an information campaign on this type of test.


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