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Family Considerations

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Background: Family members share many of the same genetic variants so the diagnosis of a pathogenic variant in one individual raises the possibility that other family members may also have the same variant and thus be at risk of developing the same condition and potentially pass this condition onto their offspring. The impact of genomic testing results can therefore have far reaching consequences within a family and this can extend beyond the physical health implications to psychological and reproductive implications. After a patient considers the possible implications of a genetic confirmation for themselves and their close family members, they may decide to defer testing or even forgo testing altogether. Informed consent requires a discussion of all significant impacts that a result may have.

Learning Objectives 

After reviewing the Key Information and Consent Form Information below, you should be able to:

1. Understand the importance of providing discussion about personal and family implications of genomic testing as part of the process of gaining informed consent.

2. Identify the relevant statements on your state or national consent form.

Key information

Decision-making involves obtaining information and weighing up advantages and disadvantages. Gaining informed consent for genomic testing involves firstly assisting the patient to understand the information they may receive. A genetic diagnosis can obviously have health implications, but we should not forget the emotional implications as well. The patient may like to consider the emotional impact of a diagnosis on themselves as well as their spouse, children or other close family members. Emotional reactions can be wide-ranging; sometimes they are positive (for example, a feeling of relief that an answer has finally been given for symptoms), but sometimes they are negative (for example, a feeling of anxiety about what this may mean for their future health).

Genetics discussions typically involve an explanation of the likely inheritance pattern. This allows a patient to obtain some insight into which of their relatives may also be at risk of the condition and potentially benefit from testing. However, this also raises feelings of anxiety in many people as they worry about whether their children or other family members may have the variant and how they will break the news to their family members about this possibility. People may fear the reaction they may encounter from a relative or feel concerned or uncertain about what to say. This can be particularly stressful when family relationships are strained. Some individuals experience feelings of guilt. For example, parents and grandparents often experience guilt when they learn that their offspring have inherited a condition from them. It is important that individuals feel supported and able to contact someone if they encounter emotional difficulties or need advice with respect to communication within their family. It is helpful if patients are afforded the opportunity to speak with a genetic counsellor if they require advice or support about how best to do this.

Consent Form

For the Australian Genomics (National Clinical Consent Form); the sentences “Results may have implications for the health/genetic risks of my family members” and “Results can be used to inform counselling and testing of family members, though my identity will not be revealed to them” are located on the first page.

For the new NSW Genetic Testing (& Genomic Testing) Consent Form; the sentence “There are a number of different possible results from the testing and these can have implications for me/my child and my/my child’s family” is located within the first half of the second page.

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