Genetic counselling in parents of children with congenital

heart disease significantly improves knowledge about

causation and enhances psychosocial functioning
Gillian M. Blue, Nadine A. Kasparian, Gary F. Sholler, Edwin P. Kirk, David S. Winlawa
International Journal of Cardiology. 178. (2015): 124–130

Rr. Unyar Leresati

 BACKGROUND (1)
Congenital heart disease (CHD) affects 6–8 per 1000 live born infants and
places a significant burden on families with an affected child

Segregation of CHD within families has suggested a heritable component and

current understanding implicates both genetic and environmental
contributions

Advances in genetic technologies unravel the complex genetic architecture

of abnormal heart development  this information can be difficult for
families to access and understand
 BACKGROUND (2)
Receiving information on possible
causes, proposed models of
inheritance, and individualised
recurrence risks is important to families
• 73% of parents thought that receiving
information about the genetic causes
of CHD was important
• 41% of patients with CHD desired
more information on the inheritance
of their structural heart defect
• Patients with CHD who reach
reproductive age should know the
increased recurrence risks for future
family planning
There is a need for improved patient education
on the genetic aspects of CHD
Substantial lack of knowledge about
CHD inheritance and recurrence risks
amongst patients and their families
• van Engelen et al: 56% of adults with
CHD had incorrect information on
transmitting CHD to their future
children
• 37% of women with CHD didn’t think
their future children would be at an
increased risk of CHD
• 80% of participants had significant
gaps in knowledge pertaining to
hereditary aspects of CHD
 BACKGROUND (3)
Parents of children with CHD suffer from
hopelessness and distress, including
depression, anxiety and somatisation
• Lawoko and Soares: parental distress
and hopelessness due to prolonged
feelings of guilt in regards to their genetic counselling also offers
child's heart condition psychosocial support to families
• Parental guilt can be associated with
reduced self-esteem, self-blame and
feelings of worthlessness  manifest
as symptoms of depression or anxiety

assist in reducing levels of anxiety

and guilt, associated with, or
related to, the inheritance of CHD
 AIM

• assessed the efficacy of an individualised

General genetic counselling session developed
specifically for parents of a child with CHD

• (1) assess parental knowledge of the

hereditary aspects of CHD pre- and post-
session
• (2) assess psychosocial functioning,
hypothesizing that the individualised genetic
counselling sessions,would assist in alleviating
Spesific anxiety and guilt, particularly in relation to
inheritance
• (3) obtain feedback in regards to the format
and content of the genetic counselling session
for the potential future implementation of the
intervention
 MATERIALS AND METHODS (1)
Participants
• parents attending preadmission clinic prior to their child's elective
cardiac surgery

Exclusion Criteria

• Patients undergoing complex neonatal or emergency

surgeries do not attend preadmission clinic
• Parents of children with a diagnosed genetic
syndrome, or those who had previously been seen by
a genetics professional
• Parents who did not have sufficient English language
skills to take part without the aid of an interpreter
 MATERIALS AND METHODS (2)
Procedures
• Ethics approval (LNR/12/SCHN/191) and site specific approval
(LNR/12/SCHN/365)  Sydney Children's Hospital Network Human
Research Ethics Committee
• The study was aligned to the routine surgical process for patients undergoing
elective cardiac surgery at The Children's Hospital at Westmead

Participants were approached about the study during preadmission

clinic

Genetic counselling session was arranged a day or two prior to

discharge from the hospital

Participants complete three questionnaires; one immediately prior to

the session, immediately after the session, and two months post-
session

Follow-up questionnaire coincided with the patients' clinical or

surgical follow-up appointments  final questionnaire
 MATERIALS AND METHODS (3)
Genetic counselling session design
• Delivered by the genetic
counsellor on an individual family
basis in which either one or both
parents attended.
• One hour per session.
• The content of the sessions was
developed using current
evidence from the literature in
conjunction with expert
consultation.
• The format was semi-structured,
covering a set of key issues and
tailoring information such as
recurrence risk estimates, as well
as the emotional support, to
individual participants' needs
Key areas
• An overview of CHD incidence
• A detailed family history
• Information on chromosome,
genes, DNA and mutations
• Possible genetic causes of CHD
(including syndromic,
multifactorial, familial)
• Environmental and teratogenic
contributions
• Heterogeneity, variable
expression, reduced penetrance
• Individualised recurrence risk
estimates
• Genetic testing and research
options.
 MATERIALS AND METHODS (4)
Survey to evaluate the effect of, and parents'
Purposely-designed and validated measures
response to, the genetic counselling session

Demographic characteristics clinical information about the child with CHD

(11 items)
Sources of genetics information sources of information relating to the causes and inheritance aspects of
(8 items) CHD

Emotional aspects of having a parents' feelings associated with having a child with CHD
child with CHD (7 items)
purposely-designed questionnaires to assess parental knowledge on
Knowledge (16 items) genetic factors and inheritance of CHD

Perceived Personal Control —
PPC (9 items)
Personal Feelings Questionnaire
— PFQ-2 (22 items)
Depression, Anxiety and Stress
Scale — DASS-21 (21 items)
Measure the cognitive, behavioural and decisional constructs
measures the degree of chronic guilt and shame
measure of distress along three symptom clusters; depression, anxiety,
and stress

Genetic Counselling Satisfaction measure client satisfaction with the genetic counselling process
Scale — GCSS (6 items)
Perceptions of the genetic Measure participants' perceptions of the format and content of the
counselling session (16 items) session, and the emotions that may have been evoked
 MATERIALS AND METHODS (4)
Analytical Statistic

• Statistical Package for the Social Sciences (SPSS Inc.) version 21

• Descriptive statistics  demographic and clinical characteristics, sources
of information, emotions related to having a child with CHD, and
experiences relating to the genetic counselling session, including the
GCSS score
• Independent samples t-tests  possible participation bias between
parents who attended the genetic counselling session and those who did
not
• Friedman's ANOVA  the mean knowledge scores and PPC scores
• Wilcoxon Signed Rank tests  differences between the scores over time
• Independent t-tests/ Mann–Whitney U / Spearman's correlations, 
relationship between demographic and clinical variables and pre-
session, post-session and follow-up knowledge scores
• Wilcoxon Signed Ranks  guilt and shame (PFQ-2 scores) and
psychosocial distress (DASS-21 scores) over the two time points
• Welch's t-test  findings from the present sample to normative data
 RESULTS (1)

Response rate and participation bias

• 94 parents (10 month period)  86 parents consented

(response rate of 1.5%.)  57 participants attending the
genetic counselling session (participation rate = 60.6%)  55
participants completed both pre- and postsession surveys 49
participants completing all three surveys.
• No participation bias was evident between parents who
attended the genetic counselling session and those who did not
in regards to the STS-EACTS mortality score of their child's
procedure and the number of previous surgeries
RESULTS (2)
RESULTS (3)
 RESULTS (4)

(13.33/16;
SD = 2.82
(14.48;
SD = 3.53)

(7.38/16; (9.71;
SD = 3.53) SD = 3.67)

Fig. 1. (A) Mean knowledge scores over the three time points: pre-session, post-session and
at the two month post-surgery follow-up appointments. (B) Mean PPC scores over the three
time points: pre-session, post-session and at the two month post-surgery follow-up
appointments.
*** = p < 0.001; error bars = 95% confidence intervals
RESULTS (5)
 RESULTS (6)
mean GCSS score x = 26.13/30 (SD= 3.62)
 DISCUSSION (1)
Effectiveness of genetic counselling in
Genetic counselling session
the provision, uptake and retention
significant improvement in
of complex information amongst
knowledge
parents of children with CHD

Timing of the genetic counselling session and the stress  did

not preclude information uptake and retention

negative correlation anxiety may have

need for
between presession hindered
additional
anxiety scores and post- learning in some
written materials
session knowledge scores participants
 DISCUSSION (2)
Significant improvements both parental guilt and shame

• Studies by addressing the event, feelings of guilt can

be significantly reduced
• In our study  feelings of guilt were identified and
explored (about the possible causes of CHD,with many
participants admitting to feelings of self-blame)  after
the genetic counselling session, 58.2% of participants
reported feeling ‘less guilty’

genetic counselling was able to alleviate feelings of guilt

associated with CHD in approximately two-thirds of participants
 DISCUSSION (3)
Feelings of guilt have important
psychological health
implications  symptoms of
depression and anxiety
• DASS-21 22%, 31% and 44%
of participants' pre-session
scores for depression, anxiety
and stress  indicative for
clinical intervention
Significant improvement in
parental depression, anxiety
and stress two months after the
genetic counselling session
• Proportion of participants'
reporting symptoms indicative
of a need for clinical
intervention, decreased to
1%, 8% and 4% for
depression, anxiety and stress
 DISCUSSION (4)
developing
Genetic counselling session  significant searching for
increase in perceived personal control (PPC) meaning in
information relation to the
scores
stressor

Understanding the cause of the condition,

Thoughts about the possible genetic what to expect and how to prepare for
contributions to disease can elicit feelings of future obstacles or recurrences  sense of
uncertainty, inadequacy and hopelessness control and promote better coping

The amount of perceived control gained Improving parents' understanding of the

through genetic counselling depends on the causes, preparing and planning for possible
nature of the disease and options available, recurrences and addressing their concerns
 assist in restoring perceived control
 DISCUSSION (5)
Genetic counselling for CHD is primarily for families with multiple affected
members or with known or suspected syndromic features

Significant benefits were observed in multiple domains following

the genetic counselling session

• Recommend the session to other parents of children with CHD

• Receiving information about ‘why’ and ‘how’ their child developed CHD
is great value
• Facilitate healthy, positive and informed discussions between parents
and their children about the heritable aspects of CHD  future family
planning
 DISCUSSION (6)
Only 1/3 of parents could Previous studies
recall receiving recommend that
information on the discussions about possible
possible causes of CHD causes of CHD be initiated
and recurrence risks from in cardiology consultations
a medical professional

Genetic counselling for all families with CHD increasing knowledge about cardiac
genetics and improving psychosocial wellbeing.

Holistic, multidisciplinary model of care is key in defining the quality of overall

outcomes and satisfaction with treatment for CHD
 DISCUSSION (7)

Recommendations

Information on the causes and inheritance of CHD should be integrated into routine
care, with information provided to parents of children with CHD as early as possible

Families should be made aware of, and referred to, genetic counselling services should
they desire detailed information about the causes of CHD and individualised
recurrence risks

Genetic counsellors (and other health professionals) need to be mindful of the strong
feelings of guilt and anxiety that parents may harbour and where possible, spend
extra time applying appropriate skills to address these emotions. Where possible,
written information should be provided to parents following genetic counselling.
 CONCLUSIONS

Single genetic counselling session, tailored specifically to the needs of

parents of children with CHD  effectively address important and pervasive
unmet needs in this group

Significant improvements in, and retention of, genetics-related information

on CHD, and in psychosocial well-being amongst parents following the
session by a genetics specialist

Initiating discussions regarding the causes of CHD into routine cardiology

practice and primary caregiver consultations, as well as referrals to genetic
counselling services, are recommended
 • This study excluded complex neonatal cases,
• Exploring the efficacy of genetic counselling in families
Limitation with more complex forms of CHD or in parents who
receive a prenatal diagnosis of CHD,  important
extension of these findings

Conflict of interest • The authors declare no conflict of interest

• Ellen Smets for sharing the questionnaire in the study

“Adults with congenital heart disease: Patients'
knowledge and concerns about inheritance”
• Elizabeth Barnes for her guidance regarding the
Acknowledgements statistical analyses applied to this study.
• Dr Kasparian is supported by a Career Development
Fellowship from the National Health and Medical
Research Council of Australia
THANK YOU