Decision making and communication in the family

Decisions regarding gNBS may affect other relatives in addition to the parents and child, and touch on issues such as family planning and the education needs of individual family members. Communication within the family is therefore central.

Important questions faced by families in the gNBS context are:

• What are our personal beliefs about the genetic determination of disease?
• Do we have personal experiences in our own family history of dealing with disease?
• Who should be involved in deciding whether to test?
• Who should be informed about which results?
• How would we deal with a difficult outcome?

As part of our subproject, we are exploring which of these questions can or should be answered by individuals, and when it may be helpful to approach the family as a whole instead.

Factors influencing the decision-making process

In the context of gNBS, quite a number of decisions need to be made - both before screening (e.g., whether to screen and which of the possible results one would like to receive) and after screening (e.g., whether and what to communicate to relatives). In the medical psychology subproject, we are investigating which factors play a role in determining the various decisions parents make regarding genetic testing in pediatrics in general and in regard to gNBS specifically.

Dealing with uncertainty and perception of risks

The potential expansion of newborn screening brings with it complex information and probability rates on disease risk for many genetic conditions. Such probability rates may be difficult to interpret, or parents may be uncertain about what the next steps would look like for them. We are interested in the needs of families in dealing with such possible uncertainties in the context of gNBS.