Why understanding implications of Genetic testing is important?

Neuropsychiatric genetic testing

Genetic testing has rather evolved over the past few years and people get to know how resourceful genetic testing can mean to them and their families, yet there are limitations and struggles of how much of genetics does a person understand. Having the right knowledge of what genetics mean and how it is interpreted are core elements of maintaining the balance between the pros and cons of deciding to get a testing done.

Stressing on the importance of genetic counseling before and after testing or rather to put it forward: during the entire customer/patient cycle of thinking of testing to the other end of getting the test or not and receiving expected outcome or VUS/ unexpected results is the most crucial aspect of maintaining this balance in healthcare. Here we discuss specifically on genetic testing in one such niche areas of neuropsychiatric genetics.

This field of genetic counseling covers the psychiatric disorders and its relation with genetics of a family. As niche as this field is, it is also one of the areas with great doubts and ambiguity. Recently, there have been news around of companies offering couples to select embryos that are considered to be at lower risk of psychiatric conditions such as schizophrenia. There are many ethical issues associated with this and also practical questions around how effective is this. What this sort of testing can cost, what they imply and is it really resourceful to do for families.

We first discuss, how Genetics is related to such health conditions:

Most human conditions are caused by different combinations of genetic variants and our experiences or rather environmental/multifactorial. It is known that schizophrenia can be caused due to hundreds of different genetic variations and it is also said that almost every human would have some form of this variation. Individually, these genetic variations each makes up only a tiny chance of someone developing schizophrenia. In general, there is around 1% chance for any of us to develop schizophrenia.

So, you may ask: ” what if we look at all the genetic variations together, at the same time and would that give us better picture of whether or not someone would develop this condition?” Answer is, this is exactly what such companies are focusing on in their genetic testing panels.

Polygenic Risk score:

The above concept of testing for all those variants that can contribute to a condition at the same time together generate an estimate of the combined risk is called Polygenic risk score (PRS). How useful a PRS is depends on the condition being tested for. In specific, for schizophrenia it is known that all variants added together still explains only 11% of an individuals overall risk of developing this condition. Which in turn means, it does not explain the remaining 89% of what that particular embryo might go on to develop as. This interprets that one such embryo testing does not guarantee that it would or not develop into a child with such condition.

Deciding factors for a genetic testing:

Examining your reasons for a testing is the first deciding step. From spending money to wanting the best fo their children and having seen how schizophrenia can affect people, being afraid to passing on. This also has to do with psychological aspects of a human mind on wanting to control: a sense of feeling to reduce risk. Here’s where a genetic counselor could really come to rescue in dealing with propping questions and feelings. Often observed with only genetic counseling and no testing it can help people understand how this conditions arise and what actions can be taken to reduce risk.

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