Aurora magazine

For about a quarter of a century, scientists have been wondering if genetic testing can have negative consequences. Can the information obtained and any risks lead to anxiety and depression? A report from the Hastings Center analyzes the issue. The results are generally positive, even if rather complex. The impact of the tests depends on the reasons for the test, on the social context and on the psychological state of the individual.

The report is divided into three parts:

1. the importance of the social and historical context on the way in which the test is received;
2. analysis of studies that exclude the psychosocial impact of genetic tests;
3. analysis of studies that analyze the negative consequences of genetic testing.

The second part focuses mainly on the consequences of Alzheimer's risk tests. According to the data, there is no significant increase in anxiety and depression problems in people who have received negative results. The third, on the other hand, associates high levels of anxiety in women waiting for prenatal test results. The tests in fact highlight the inherent uncertainty in human health.

The conclusions are in any case positive. Receiving information regarding any anomalies does not seem to have any particular negative consequences. In general, the negative impact on the psyche is extremely limited and in any case balanced by the many positive consequences.

Source: thehastingscenter.org

A study by the Joslin Diabetes Center shows that some people with Type 1 diabetes suffer from monogenic diabetes. This form of diabetes is a non-autoimmune hereditary condition, which in some cases does not require insulin treatment. According to the author, therefore, young people suffering from Type 1 diabetes should perform genetic tests to identify the possible variant.

The discovery is part of a broader research, focusing on people who have been living with diabetes for at least 50 years. The study includes other important findings on pancreatic cell activity, but this is one of the most interesting. It could in fact mean freedom from insulin for many young diabetics. Monogenetic diabetes is caused by mutations in one of the genes related to insulin production. It could affect about 5% of cases, many of them of juvenile diabetes.

To prove it, the researchers tested 29 genes related to monogenetic diabetes, plus other genes that cause Type 1 diabetes. Out of about 1019 volunteers, about 8% showed a mutation from a monogenetic diabetes that could have caused the disease. About half of them lacked the Type 1 diabetes-related mutation.

This means that the people in question could respond better to oral drug therapy than to simple insulin. New clinical trials should start within a couple of months to test the effectiveness of oral drugs. If the results were positive, they could change the lives of millions of people with diabetes.

Source: medicalxpress.com

Preimplantation genetic tests are essential, but they are much earlier than a fetal DNA test. They can therefore lead to false positives and false negatives. To reduce this risk, an international team of researchers is working on a new technique.

Their goal is to increase the reliability of these tests and facilitate IVF. Current tests start with a small blastocyst biopsy, the very first phase of the embryo. The doctors take a sample of trophoblast, the tissue that gives rise to the placenta, and analyzes it. However, it happens that the cells of the trophoblast are healthy and those that will give rise to the embryo no, or vice versa. The phenomenon is called mosaicism and complicates genetic analysis.

The study authors developed a technique to analyze the cells contained in the culture fluid of the blastocyst. In this way it is easier to analyze different types of cells and it is more difficult to damage the blastocyst. It was tested by 52 blastocysts donated by patients who were undergoing fertility treatments.

They had all been analyzed using traditional techniques, allowing them to compare old and new results. The traditional technique has a false positive rate of 50%: out of 18 blastocysts considered abnormal, 9 were not. The new technique instead has a rate of 20%, still important but still much lower than the first. If perfected, it could facilitate pre-implantation analysis and therefore the selection of the best embryos for IVF.

Source: medicalxpress.com

Type 2 diabetes depends on both environmental conditions and genetic predisposition, it is known. Yet the biological mechanisms underlying the disease are still unclear. For this reason, scientists from the University of Michigan have decided to expand the scope of traditional studies. Much of the research on diabetes is based on data collected from people of European origin.

This makes it harder to generalize the collected data, which does not take into account any variants present in other ethnic groups. For this study, instead, almost 46,000 people of all ethnic groups were involved, 21,000 suffering from type 2 diabetes and 25,000 healthy. In this way the researchers could rely on larger and more varied samples. Collect the samples, the researchers decided to reduce the radius of the analysis. They then concentrated on a particular portion of the genome, the one that codes for proteins.

This part of the genome is called an exome and represents only 2% of our entire genetic code. Research tends to underestimate it, but many recent studies are rediscovering it with surprising results. This is one of those. Thanks to this approach, the authors of the study found genetic variants related to the risk of diabetes ever observed, as they are rarer. A result already remarkable in itself, which however will require further studies and samples of even wider people.

Source: focus.it