Parents’ perceptions of genetics services for congenital heart disease: the role of demographic, clinical, and psychological factors in determining service attendance

Abstract

Purpose:We sought to identify the demographic, clinical, and psychological factors associated with parents' attendance at clinical genetics services for congenital heart disease. Methods:A survey assessing access to cardiac genetics services and a range of other variables was sent to the families of 213 children diagnosed with congenital heart disease between the years 2000 and 2009 at the Sydney Children's Hospital, Australia. Results:Of the 114 respondents, 22% had accessed cardiac genetics services. Variables strongly associated with service attendance included presence of a syndrome associated with congenital heart disease (odds ratio = 17.93; P < 0.001) and antenatal diagnosis of congenital heart disease (odds ratio = 4.13; P = 0.02). Most participants (87%) perceived genetic factors as "quite" or "extremely important" in the development of congenital heart disease, and many (73%) believed that receiving information about congenital heart disease and genetics was "quite" or "extremely important"; however, only 36% of participants could recall receiving information of this nature. Forty-two percent of parents reported current concerns about their child's health, and a substantial subset reported levels of depression (26%), anxiety (27%), and stress (32%) warranting clinical attention. Conclusion:There is a strong desire among parents of children with congenital heart disease for greater information about the role of genetic factors; however, most families do not access cardiac genetics services and report limited recall of information gathered from other sources.

Genetic counselling in parents of children with congenital heart disease significantly improves knowledge about causation and enhances psychosocial functioning

“…According to the American Heart Association, genetic counselling is recommended for adolescents with CHD as part of the transition to adult services [27]; however this study, along with our previous work [7], signifies the need for similar services to be made available in the paediatric setting. To date, genetic counselling for CHD is primarily offered to families with multiple affected members or those with known or suspected syndromic features.…”

“…Furthermore, the timeframe for recall in this study was short (two months), whereas for some participants the time since their child's initial diagnosis, when similar information may have been provided, was longer. Nevertheless, previous studies recommend that discussions about possible causes of CHD be initiated in cardiology consultations [7]. Our findings support this recommendation, and while we provide information about possible causes of CHD on our website (http://www.heartcentreforchildren.com.au/how-did-this- happen-.html), this study provides additional evidence on the importance of genetic counselling for all families with CHD, both in terms of increasing knowledge about cardiac genetics and improving psychosocial wellbeing.…”

“…Receiving more information on possible causes, proposed models of inheritance, and individualised recurrence risks is therefore important to families. A recent study conducted by our group found that 73% of parents were of the opinion that receiving information about the genetic causes of CHD was important; however, only 36% could recall ever having received this information [7]. Another study found that 41% of patients with CHD desired more information on the inheritance of their structural heart defect [8].…”

Bioengineering and Stem Cell Technology in the Treatment of Congenital Heart Disease

“…Over the last three decades, surgery has become more complex and is generally performed earlier—often during the neonatal period—to gain better functional outcomes in the long term. A diagnosis of CHD is associated with important psychosocial dysfunction with many parents reporting symptoms equivalent to post-traumatic stress disorders, high levels of parental depression and ongoing anxiety with similar problems observed in adolescent and adult survivors [9]. …”

Pulse oximetry screening of newborns: Not only a screening test for congenital heart disease

“…Families value the confidence that a major abnormality may be identified early; however, for those babies with false positives and possible need for relocation for additional assessment, this may be associated with important issues of parental anxiety and consequential impacts on bonding. 4,11,12 It is also imperative that programmes involved with oximetry screening make it clear to parents and professionals that a negative test does not rule out all serious illness. For example, some cardiac lesions may not be associated with early desaturation (e.g.…”