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. 2021 Jul 9;12(4):577–592. doi: 10.1007/s12687-021-00536-1

Table 4.

Information provided orally to participants on alternative examples of potential genetic results (translated from German)

Example Description
Malignant hyperthermia

Another example for a possible genetic result is Malignant Hyperthermia

Malignant Hyperthermia is a condition that can lead to severe complications if certain anesthetics or muscle relaxants are given to a person, for example in the course of an operation. These complications can lead to organ failure and end in death. However, if the cause of the complication is identified correctly measures can be taken that to cure the symptoms and death

In case it is known that a person has the genetic variant responsible for Malignant Hyperthermia, alternative anesthetic agents will be used, and the complications can be prevented altogether

The chance to pass the genetic variant on to children is 50 percent. This does not mean that children will inherit the disease, but that they might inherit the risk of developing it

Do you have any questions about this example?

Restless legs syndrome

A further example for a possible genetic result is the Restless Legs Syndrome. The disease leads to the development of an unbearable urge to move your legs or sometimes also arms during rest or night-time. This often results in insomnia and sleep deprivation and can have negative effects on the mental and physical health of a person

Several genetic variants have been identified that increase the risk of developing this disease. However, not just genetic factors but also other factors like lifestyle or environmental factors can influence the development of the Restless Legs Syndrome

At the moment, the Restless Legs Syndrome cannot be cured but lifestyle changes and medication can significantly ease the symptoms. The disease can develop at any age

The chance to pass the genetic variant on to children lies between 50 and 60 percent. This does not mean that children will inherit the disease, but that they might inherit the risk of developing it

Do you have any questions about this example?