p.33 抽出テキスト

to account the experiences and values of the family is needed (Figure 9). The guiding principle remains that any testing, clinical or genetic, should be in the best interests of the child and have an impact on management, lifestyle, and/or ongoing clinical testing.75 With appropriate multidisciplinary support in a paediatric setting, psychosocial outcomes in children undergoing clinical screening and cascade genetic testing are no different than those of the general population.212

6.8.3.2 Pre- and post-test genetic counselling (proband)

One critical role for genetic counselling is that it should be done alongside genetic testing (see Section 6.8.2).3 This includes a discussion prior to a decision to undertake genetic testing (pre-test), and at the time of the return of the results (post-test). Key discussion points during preand post-test counselling are summarized in Table 13.

6.8.3.3 Genetic counselling for cascade testing

Once a P/LP variant has been identified within an index patient following investigations of relevant disease genes associated with the specific phenotype, it is possible to offer cascade genetic testing of first-degree at-risk relatives, including pre-test genetic counselling (see Section 6.8). In a scenario where a first-degree relative has died, evaluation of close relatives of the deceased individual (i.e. second-degree relatives of the index patient) should also be considered.

Undergo cascade genetic testing

Genotype-positive Genotype-negative

Continue clinical

screening Release from further

clinical screening

Risk of developing

disease Continue clinical

screening

Risk of developing

disease Remove unnecessary worry

Decline cascade genetic testing

Understand motivations for

testing

Minimize healthcare burden of unnecessary

clinical screening

Tolerance to uncertainty Willingness to undergo periodic

clinical screening

Age of the child

Family experience

with disease Life stage

Explore worry

and fear

Genetic counselling Access to information and resources

Preferences of

the parents Wish to include children in decision-

making when older

Respectful discussion

Potential impact on lifestyle, sport,

wellbeing

Family values and beliefs

Cascade genetic testing in children: a patient-centred approach

Figure 9 A patient-centred approach to cascade genetic testing of children. Factors to consider when supporting families to decide whether to pursue cascade genetic testing in children.

ESC Guidelines                                                                                                                                                                                          3535

Downloaded from academic.oup.com/eurheartj/article/44/37/3503/7246608 by guest on 07 October 2026