Psychosocial issues in cardiogenetics: Saving lives is not the only goal! Irene van Langen Lund, 25-09-2015 Department of genetics, UMCG,The Netherlands

Psychosocial issues in cardiogenetics:

Saving lives is not the only goal!

Irene van Langen

Lund, 25-09-2015

Department of genetics, UMCG,The Netherlands

Department of Genetics

4 Themes

• Impact of predictive testing in adults (HCM, LQTS)

• Impact of predictive testing in children (HCM, LQTS, FH)

• Family issues and scd in the young

• Innovations in counseling


For each theme

• Take home messages for daily practice


Impact of predictive testing in adults


Long QT syndrome

Heart Rhythm 2008; 5(5):719-24


Predictive testing LQTS

• Prospective study, follow up 18 months

• Assessment of disease-related anxiety and depression

• 77 applicants, 57 partners

• Combined consultation, ECG at first visit, DNA afterwards, result in 8 weeks


Predictive testing in LQTS

• ECG-testing (=predictive!) :– Normal result– Uncertain result– Abnormal result: additional cardiac

examination and prophylactic treatment


Predictive testing in LQTS

• Design:– T1: within 2 weeks after first consultation– T2: 2 weeks after DNA-disclosure– T3: 18 months after DNA-disclosure

• Measures:– Impact of Event Scale (IES), 15 items– Beck Depression Inventory (BDI), 21 items– Sociodemographic/medical

• Cutoff scores for clinically high distress


Results: Sociodemographic

• Response 90%• Age 24-72 (m 45.9)• 60% Male• Education level

– High 29%– Medium 33%– Low 38%

• Having children 86%


Results: Anxiety and depressionCarriers

• Carriers with abnormal ECG: – Moderate anxiety at T1, decreasing to almost normal

at T3– No depression

• Carriers with uncertain ECG:– Significant anxiety, at T1 and T2, moderate at T3– Significant depression at T1, normal at T2,3– Clinically relevant distress from 60% to 36%


Results: Anxiety and depressionNon-carriers

• Non-Carriers with normal ECG: – No relevant distress at all measures

• Non-Carriers with uncertain ECG:– Moderate anxiety, at T1, normal at T2,3– No depression– Clinically relevant distress from 33% to 11%


Results partners

• Partners of carriers– Moderate impact al all 3 assessments

• Partners of non-carriers– Normal range all 3 assessments


Take home

• ECG is also predictive

• Rather not give ‘uncertain results ECG’

• Adults are capable of handling predictive testing in LQTS at long term


HCM carriers

2009


HCM carriers

• Cross sectional study, ≥18 months after predictive testing

• Assessment of QoL and Distress

• 228 HCM mutation carriers1. Manifest HCM before testing

2. Manifest HCM after testing

3. Without manifest HCM


HCM carriers: measures

– Quality of Life• SF-36 (8 dimensions)

– Distress • Hospital Anxiety and Depression Scale (HADS A

and D)

– Perceived risks• SCD• Developing (more) symptoms• Developing limitations in daily activities

– Illness perceptions• Illness perceptions questionnaire (IPQ-R)


Results: demographics

• Response 87%• Age 49y (SD 15y)• 49% Male• Education

– High 24.1%– Medium 44.7%– Low 31.1%

• Clinical diagnosis HCM 59.2%– Heart complaints 25.9%


Results QoL

• 3 most important factors for low mental QoL– Physical comorbidity– More emotional reactions triggered by carriership– High perceived risk of developing symptoms


Results Anxiety

• 4 most important factors for high anxiety – Female sex– Carriers with emotional reactions on

carriership– Stronger belief in serious consequences– Higher perceived risk of SCD


Results Depression

• 5 most important factors for severe depression– Lower level of understanding carriership– Stronger belief in serious consequences– Having symptoms– Higher perceived risk of SCD– Longer time since DNA test result


Comparisons

• With Dutch population– In general: lower health perceptions, lower

vitality, less bodily pain– Predictively tested carriers:

• Higher QoL and lower anxiety and depression• Even better in carriers without manifest HCM• ‘I do not feel inferior, I even feel

stronger.Sometimes I think I handle with more sense than others’

Explanation?


Comparisons

• Between subgroups– Manifest HCM before testing: worse

– Manifest HCM after testing: better

– No manifest HCM: best


Take home

• Not the DNA-testing, but the HCM itself causes problems (in some)

• HCM carriers with no/few symptoms report better QoL and lower anxiety and depression than general population

• (Mis)perceptions of risk (SCD, serious symptoms) should be addressed in counseling and cardiac follow up visits


Predictive testing in children


LQTS, short and long term: parents


LQTS, short and long term: parents

• Design – T1, T2, T3 (as adults, setting similar; ECG)

• Measures– Anxiety: IES (15), STAI-S (situational, 20)– Depression: BDI (21)– Coping: Utrecht Coping List (15)– Social Support: SSQ (12)– Experience with disease (self-constructed)– Sociodemographic/medical


Results sociodemographic/medical

• 36 Parents (17 couples)– Age 28-48– 50% Male– Education

• High 19%• Medium 24%• Low 47%

• 41 Children– Age 0-17, 50% boys, 17/41 carrier (+ECG

abnormal), 12 treated


Results Distress

• Parents of carrier-children– Significant distress at T1 in 35%– Remains high at T2 and T3– Parents with high distress at T1 are still

distressed at T3

• Parents of non-carrier children– No significant differences with normal

population at T1, 2,3– Decline after good result


Results distress

• Effect of carrier status parent?– Carrier parents with carrier children highest

scores

• Effect of composition of results in sibships?– All children carriers; highest scores


Worry after 18 months (T3)

• 75% of parents of carrier-children show signs of anxiety

• Vigilant for symptoms and SCD• Only 20% fully confident in treatment

• ‘I sleep with the doors open and the slightest sound from her room awakes me in a startle. A long period of silence awakes me as well, only to go and check if she is alive. I am relieved when I see her wake up in the morning and it is difficult again at bedtime’ 11 year old daugther


Who is at risk for high distress at T3?

• Parents with– Low education– High distress at T1,2– Experience with SCD in family– Experience with LQTS for longer time

– Lack of satisfaction with given information (lack of support from GP and regional hospital)


Worry after 18 months (T3)

• 55% Perceives treatment as burdensome

• Majority fears child’s future – career, marriage, stigmatisation, puberty

‘We most fear the period our child will enter puberty and becomes obstinate, since we may then lose control on her medicine regime’


Take home

• Adjustment of parents with LQTS-carrier children is poor in 1/3

• Children are seen as vulnarable and as patients, although most of them are asymptomatic

• Parents are more focussed on the well-being of their children than on their own health

• Regular psychosocial and educational follow up needed!


LQTS, HCM, FH in children


Qualitative study in carrier children

• 11 LQTS, 6 HCM, 16 FH• Age 8-18

• Interviews with children and parents (seperately)– How do they perceive carrier status– What is the impact on daily life– What strategies are used for coping


Results

• Children tell to cope effectively with their condition, it does not affect their lives significantly, few worries reported

• Straightforwared attitudes of (some) parents and medical professionals contribute to lack of concerns in children

• Children are able to describe their disease, the hereditary character and the risk of SCD


Results (risks)

• LQTS carriers and those who were confronted with SCD cope less well– Afraid of forgetting medication and its potential

consequences– Side effects of beta-blockers

• Several dislike being different

• Some are bullied at school (and were preoccupied with their condition)


Quantitative study

• Same population • Results

– QoL KIDSCREEN: no significant differences with Dutch reference children

– No differences in ratings between parents and children, except for ‘psychological wellbeing’• Lower rated by parents than by children


Take home

• Children (>8y) are able to understand information on disease and carriership

• HCM and FH: no problems• LQTS children at greater risk

• Attitude of parents and doctors is important


Family studies


SCD families: interview study


Participants

• 9 First degree relatives of 7 young (18-41) scd victims and 1 spouse

• Visiting the cardiogenetics outpatient clinic for counseling and cardiologic and genetic screening


Interviews

• Open ended questions

• Topics– Experiences– Considerations– Emotions

• 3 Stages– Information process (about possible cause of death)– Decision making proces (to come to the clinic)– 1st Phase of cardiogenetic evaluation


Main results

• Health professionals did not have an important role in investigating (cause of death), informing or referring

• Mourning, timely referral and understanding were hampered as a result

• Information was gathered from the internet, friends (=physicians), relatives, colleagues


Results (2)

• Main reasons to attend our clinic– Understanding the cause of death (associated

with feelings of guilt), need for peace of mind– Wanting to prevent a next SCD event

‘My brother in law said once: Do you really want to know everything? What if you know and there is nothing you can do? Then I started to have doubts , but eventually I thought: we want to grow old but our grandson is more important. If he should have something that could be controlled by medicine or something else, well, that’s more important to us than our own health’


Results (3)

• Possible improvements– Autopsy required by law– Proactive role of GP in informing, referral and

it’s timing– Cardiological examination at first visit


Take home

• Relatives of young SCD victims need information and timely referral to relieve anxiety and feelings of guilt and to prevent a next SCD in their family


And finally….

• With growing awareness and increasing possibilities of molecular testing (NGS) in cardiogenetics, patient numbers are growing, but our resources and staffing are not….

• Therefore we need to innovate!


Group- and webconsulting


‘’

Summary

• Adults carrying cardiogenetic diseases function well and do not suffer (long) from predictive testing or from follow up cardiologic screening

• Children are mainly doing fine, as well as their parents, but LQTS needs extra care

• Educational as well as emotional follow up are needed • Psychosocial support should be offered to those at high

risk for distress• If these requirements are met we can go on finding,

screening and treating as many potential SCD victims as possible

• To do this, we need to innovate our counseling methods


Finished!: any questions?

Documents

Psychosocial issues in cardiogenetics: Saving lives is not the only goal! Irene van Langen Lund, 25-09-2015 Department of genetics, UMCG,The Netherlands