Table 2.

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

Example	Description
General introduction (given directly before presentation of examples)	“At this point in time you will only receive clinical results from the CHRIS study, which are among others your ECG, blood results and your Body-Mass-Index. This however might change in the future. With advancing research, we expect that more individual genetic results will arise, that might be relevant for our participants. Therefore, we are trying to figure out what kind of genetic results might be interesting to our participants. And this is also why we would like to know more details from you on what kind of genetic results you would like to receive Generally, the genetic research of the CHIRS study is still experimental and thus we do not expect to detect many results, that have a direct medical use for a single research participant. However, with increasing research on the collected data it might be the case, that now or in the future, results are found, that are indeed relevant for the health of our participants It is important to know that genetic results are can be very diverse. Only a very small number of results can predict if someone will develop a disease with high certainty. A much larger number of results will only be able to indicate an elevated risk to develop a certain illness To make it easier for you to understand what genetic results are, I will present you with three examples of potential genetic results. These examples are very different and are representing different types of genetic results. After each example, I will ask you what you think of the result and if you would like to receive it. If you have any question during my explanation, please do not hesitate to interrupt me I want to stress: These examples are presented in a simplified manner and we are not going to much into scientific details. Furthermore, the decision you are making today is not binding for any actual genetic results from the CHRIS study Do you have any questions so far?”
BRCA1/BRCA2	The first example are two genetic variants, that increase the risk of developing breast cancer. Approximately 60 to 80 out of 100 women, that have one of these genetic variants, will develop breast cancer at some point throughout their life. Not only women also men can develop breast cancer due to these variants. However, they have a lower risk than women. *(In men it is only 20 out of 100). The risk of developing breast cancer due to these genetic variants is relatively high, however it is not 100 percent. This means, that a person that has this genetic variant might stay healthy throughout their entire life. Moreover, also a person, that does not have the genetic variant, might still get breast cancer If one of these genetic variants has been detected, it is possible to do regular precautionary medical check-ups. This will facilitate the recognition and treatment of a tumor at an early stage and increase the chances of a complete recovery significantly. Another possibility is to have a precautionary breast removal on both sides. *(As a man, you might not feel too concerned about breast cancer. However, keep in mind that breast cancer is only an example representing similar kinds of results. Thereby I mean genetic variants that lead to a high risk of developing a serious disease for which precautionary measures are available.) The chances to pass the genetic variant on to children are 50 percent. This does not mean that children will develop the disease, but that they can inherit the elevated risk of developing breast cancer Do you have any questions about this example? *Information in brackets has only been provided to men
Morbus Parkinson	The second example is a genetic variant, that increases a person’s risk of developing Parkinson Disease. Have you heard of the Parkinson’s Disease before? (pause for answer) Parkinson is a disease of the central nervous system. One of its best-known symptoms is heavy tremor. Other symptoms are muscle rigidity and cognitive impairments So far, several genetic variants have been identified, that increase the risk of a person to develop Parkinson Disease. However, the augmentation of the risk is very low. This means the chance of actually developing Parkinson Disease because of one of those genetic variants is very low. Actually, the risk is only slightly higher than of any other person of the population to develop Parkinson Disease. Moreover, most people that develop Parkinson Disease, do not have any of the known genetic variants In contrast to breast cancer there are no precautionary measures that can be taken, to prevent the development of Parkinson Disease. The outbreak of the disease cannot be prevented, and treatment is only possible once the disease manifested itself. Until now Parkinson Disease cannot be cured. However medical treatment can alleviate the symptoms significantly, and the progress of the disease can be delayed. Also, it is important to know that Parkinson Disease does not necessarily lead to a premature death The chance to pass the genetic variant on to children is 50 percent. Like for breast cancer, this does not mean that children will inherit the disease, but that they might inherit an elevated risk to develop it Do you have any questions about this example?
Chorea Huntington	A very different result is a genetic variant that causes the Huntington Disease. Have you ever heard of this disease? (pause for answer) Huntington Disease is a disease that is caused by a single genetic variant. It damages the neural cells in the brain, which leads to the development of motoric and psychological problems like involuntary movements, alterations of the personality, depression, dementia and psychosis. In the final stage of the disease the affected persons are confined to their beds and completely dependent on the help of others. The disease usually sets on around the age of 45. The disease is not curable and always leads to a premature death The genetic variant causing the disease can be detected through a genetic test. A person that has this genetic variant will always develop the disease. Moreover, the genetic variant can be passed on to one’s children. The chances for children to inherit the variant is 50 percent. If a child has inherited the variant it will develop the disease at one point in their life Do you have any questions about this example?