Genetic tests are increasing in recent years to identify any genetic abnormalities. Some of these increase the chances of developing a tumor. Others do not harm the bearer in any way, but are hereditary and can manifest themselves in their children. If identified before conceiving, it is possible to use PMA and still have healthy children.

So we should all do a genetic test before having children? The answer is difficult.

In some cases, the need for a genetic test is obvious. For example, many women carry out the BRCA test just as a safety measure. Maybe there were several cases of a genetic disease in the family, so the probability of being healthy carriers is high. At other times even mild symptoms of the disease occur. Unfortunately, however, some genetic hereditary anomalies have no precedents in the family. At least not from memory. This makes it more difficult to understand which genetic test to perform.

Researchers at the National Human Genome Research Institute are developing a complete genetic test. Using sequencing of the entire genome, one could identify the areas most at risk, to be examined more closely. If a genetic test of this kind became accessible to everyone, it would also help those who do not know their own family history, like the people adopted. For the moment, however, the road is still long.

Dr. Sue Richards is in charge of this project. Study participants have a list of 700 genetic diseases available. The researchers ask them which ones they would like to deepen, after which they carry out the test. Many of the participants require a complete analysis of the genome, but the results are still complicated to manage.

It is estimated that 1 in 5 people have at least one genetic abnormality. Some of these are interpretable, but many others are not. Furthermore, there are some very similar genome regions that are difficult to interpret. For the moment, therefore, a 360 ° test may not be 100% reliable, as opposed to the more circumscribed ones already available.

Source: sciencemag.org