Predictive genetic testing for cardiovascular diseases: Impact on carrier children

Abstract

We studied the experiences of children identified by family screening who were found to be a mutation carrier for a genetic cardiovascular disease (Long QT Syndrome (LQTS), Hypertrophic Cardiomyopathy (HCM), Familial Hypercholesterolemia (FH)). We addressed the (a) manner in which they perceive their carrier status, (b) impact on their daily lives, and (c) strategy used to cope with these consequences. Children (aged 8-18) who tested positive for LQTS (n=11), HCM (n=6) or FH (n=16), and their parents participated in semi-structured audiotaped interviews. Interview topics included illness perception, use of medication, lifestyle modifications, worries, and coping. Each interview was coded by two researchers. The qualitative analysis was guided by Leventhal's model of self-regulation. The children were overall quite articulate about the disease they were tested for, including its mode of inheritance. They expressed positive future health perceptions, but feelings of controllability varied. Adherence and side-effects were significant themes with regard to medication-use. Refraining from activities and maintaining a non-fat diet were themes concerning lifestyle modifications. Some children spontaneously reported worries about the possibility of dying and frustration about being different from peers. Children coped with these worries by expressing faith in the effectiveness of medication, trying to be similar to peers or, in contrast, emphasizing their "being different." Children generally appeared effective in the way they coped with their carrier status and its implications. Nevertheless, dealing with the daily implications of their condition remains difficult in some situations, warranting continued availability of psychosocial support.

The psychological impact of genetic information on children: a systematic review

“…These studies reported that a further 13% 40 and 4% 37 of children described positive influences on their lives. Meulenkamp et al 41 reported that 15% of children in their study reported worrying about their hereditary predisposition to cardiovascular disease, whereas 90% of children at risk for hereditary risk of acute intermittent porphyria reported that knowledge of their personal risk status had no effect on their educational, occupational, or social lives. 42 An FAP study found that some children worried less and showed a decrease in situational distress after testing negative due to lower perceived risk of getting polyposis and increased confidence in their risk estimate.…”

“…3,16,17,29,43,44,46,47 The primary proposed negative outcome of genetic testing was increased anxiety about the child's future health, noted as 28 No psychological impact between carriers, noncarriers, or those with unknown status. 36 Few met full "psychiatric diagnosis" and no differences in problem scores 39 Reduced uncertainty learning of test result, 3,16 relief from fear if negative, 3 or knowing treatment available if positive 44 Few worried about worse health 41 or developing the disease they were genetically predisposed to. 42 Some hoped/expected medication to help 41 Promotes psychological adjustment 17,46 and child autonomy 17,46 No behavioral problems at follow-up, 25,35 regardless of test results, 28 and decreased in some at follow-up.…”

“…36 Few met full "psychiatric diagnosis" and no differences in problem scores 39 Reduced uncertainty learning of test result, 3,16 relief from fear if negative, 3 or knowing treatment available if positive 44 Few worried about worse health 41 or developing the disease they were genetically predisposed to. 42 Some hoped/expected medication to help 41 Promotes psychological adjustment 17,46 and child autonomy 17,46 No behavioral problems at follow-up, 25,35 regardless of test results, 28 and decreased in some at follow-up. 35 "Good" social acceptance and bullying (P < 0.001) 38 Reduction in worry/uncertainty about future life planning (education, employment, social, and economic plans) and health planning (early or presymptomatic intervention) 3,16,17,29,43,44,46,47 Majority only thought/worried about becoming sick a 'little bit' or less.…”

“…28 Anxiety similar to baseline at follow-up 34 and few reported worrying about their predisposition. 41 Majority reported no change in educational, occupational, or social plans 42 Many (84% 37 and 78%) 40 reported no influence of testing on their lives, with few 37,40 reporting positive influences Negatives Third-party stigmatization or discrimination from third parties (educational, employment, or insurance) 3,16,17,29,43,45,46 Ten percent denied acceptance to education; 20% deemed medically unfit for employment 42 Survivor guilt (whereby sibling may become separated or withdrawn from another sibling due to test outcome). 3,16,29,44,47 Guilt due to genetic abnormality.…”

“…40 Daughters of mothers tested for BRCA1/2 worried more about developing breast cancer 26 Harm to child's self-concept, 16,17,29 selfesteem, 29,44,46,47 self-worth (due to perceived failure to meet parent's expectations), 16,47 and self-image 27 Self-esteem normal at follow-up, despite results. 28,41 Genetic results only reported to comprise a "small part" of child's identity 42 Increased anxiety over the child's future health 3,16,27,43,45,47 Fifty-five percent worried a "fair amount" or more that they would get cancer in the future. 25 Anxiety increased in mutation-positive children with affected mothers but was normal at follow-up 35 Social isolation, 44 decreased social functioning, 29 and behavioral problems 45 Few carriers felt different to peers or reported social frustration 41 Potential ethical issues including loss of the child's autonomy 16,29 Reduced autonomy in carrier children.…”