Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Family Communication AboutCancer Genetic Testing:
Parent-Child Perspectives
Family Communication AboutCancer Genetic Testing:
Parent-Child Perspectives
Kenneth P. Tercyak, PhDKenneth P. Tercyak, PhD
Departments of Oncology and PediatricsLombardi Comprehensive Cancer Center
Georgetown University Medical Center
Departments of Oncology and PediatricsLombardi Comprehensive Cancer Center
Georgetown University Medical Center
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Cancer PrevalenceCancer Prevalence• >10 million Americans surviving with cancer
• >1.4 million new cases expected
• All cancer is genetic
• Only small fraction are hereditary
• “Hereditary” or “familial” cancers include some forms of breast, ovarian, colorectal
• >10 million Americans surviving with cancer
• >1.4 million new cases expected
• All cancer is genetic
• Only small fraction are hereditary
• “Hereditary” or “familial” cancers include some forms of breast, ovarian, colorectal
Source: American Cancer Society
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Familial Breast CancerFamilial Breast Cancer
• Most common type among women (1:8 lifetime)
• 5%-10% of all female breast/ovarian cancers are hereditary
• BRCA1/BRCA2 gene alterations
• Genetic counseling and testing
• Most common type among women (1:8 lifetime)
• 5%-10% of all female breast/ovarian cancers are hereditary
• BRCA1/BRCA2 gene alterations
• Genetic counseling and testingSource: American Cancer Society
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Decisions & OutcomesDecisions & Outcomes
• Counseling, testing, results receipt?
• Screening (mammography, CBE, MRI)
• Chemoprevention (tamoxifen?)
• Prophylactic surgery (mastectomy, oophorectomy)
•Disclosure to potentially at-risk relatives
• Counseling, testing, results receipt?
• Screening (mammography, CBE, MRI)
• Chemoprevention (tamoxifen?)
• Prophylactic surgery (mastectomy, oophorectomy)
•Disclosure to potentially at-risk relativesSource: American Cancer Society
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
How Often Do Parents DiscloseGenetic Test Results To Their
Minor-Age Children?
How Often Do Parents DiscloseGenetic Test Results To Their
Minor-Age Children?
Why (not)?Why (not)?
When? How?When? How?
What consequence?What consequence?
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Children (Minors)Children (Minors)ASCO recommends that the decision to offer testing to potentially affected children should take into account the availability of evidence-based risk-reduction strategies and the probability of developing a malignancy during childhood. Where risk-reduction strategies are available or cancer predominantly develops in childhood, ASCO believes that the scope of parental authority encompasses the right to decide for or against testing. In the absence of increased risk of a childhood malignancy, ASCO recommends delaying genetic testing until an individual is of sufficient age to make an informed decision regarding such tests. As in other areas of pediatric care, the clinical cancer genetics professional should be an advocate for the best interests of the child.
ASCO recommends that the decision to offer testing to potentially affected children should take into account the availability of evidence-based risk-reduction strategies and the probability of developing a malignancy during childhood. Where risk-reduction strategies are available or cancer predominantly develops in childhood, ASCO believes that the scope of parental authority encompasses the right to decide for or against testing. In the absence of increased risk of a childhood malignancy, ASCO recommends delaying genetic testing until an individual is of sufficient age to make an informed decision regarding such tests. As in other areas of pediatric care, the clinical cancer genetics professional should be an advocate for the best interests of the child.
Source: American Society of Clinical Oncology
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Parent Communication StudyParent Communication Study
• Disclosure to children?
• Factors influencing disclosure?
• Attitudes toward testing children?
• Process, outcomes of disclosure?
• Decision support?
• Disclosure to children?
• Factors influencing disclosure?
• Attitudes toward testing children?
• Process, outcomes of disclosure?
• Decision support?
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Parent Communication StudyParent Communication Study
Mothers• N = 240• BRCA1/2 counseling/testing• M Age = 46, 81% Caucasian, 75% College• 80% Married, 58% Survivor, 76% Proband
Fathers• N = 124• M Age = 48, 83% Caucasian, 90% Biological
Children• M Age = 13 (8-21), 53% Female
Mothers• N = 240• BRCA1/2 counseling/testing• M Age = 46, 81% Caucasian, 75% College• 80% Married, 58% Survivor, 76% Proband
Fathers• N = 124• M Age = 48, 83% Caucasian, 90% Biological
Children• M Age = 13 (8-21), 53% Female
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Disclosure x Test ResultDisclosure x Test Result
59%
72%
59%
48%
0%10%20%30%40%50%60%70%80%90%
100%
Overa
ll
Noncarri
ers
Uninfo
rmat
ives
Carrie
rs
% D
iscl
ose
d
59%
72%
59%
48%
0%10%20%30%40%50%60%70%80%90%
100%
Overa
ll
Noncarri
ers
Uninfo
rmat
ives
Carrie
rs
% D
iscl
ose
d
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Disclosure xMaternal Characteristics
Disclosure xMaternal Characteristics
56%
68%
55%
69%
54%
78%
57%61%
58% 59%
0%10%20%30%40%50%60%70%80%90%
100%
Cauca
sian
Oth
er
College
+
<Colle
ge
Mar
ried*
Unmar
ried*
Surviv
or
No Ca
Hx
Proban
d
Relat
ive
% D
iscl
ose
d
56%
68%
55%
69%
54%
78%
57%61%
58% 59%
0%10%20%30%40%50%60%70%80%90%
100%
Cauca
sian
Oth
er
College
+
<Colle
ge
Mar
ried*
Unmar
ried*
Surviv
or
No Ca
Hx
Proban
d
Relat
ive
% D
iscl
ose
d
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Disclosure x Child AgeDisclosure x Child Age
25%29%
70%
92%
83% 81%
100%
0%
10%
20%
30%
40%
50%
60%
70%
80%
90%
100%
8-9 10-11 12-13 14-15 16-17 18-19 20-21
% D
iscl
ose
d
25%29%
70%
92%
83% 81%
100%
0%
10%
20%
30%
40%
50%
60%
70%
80%
90%
100%
8-9 10-11 12-13 14-15 16-17 18-19 20-21
% D
iscl
ose
d
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Disclosure x Child GenderDisclosure x Child Gender
48%52%
0%
10%
20%
30%
40%
50%
60%
70%
80%
90%
100%
Male Female
% D
iscl
ose
d
48%52%
0%
10%
20%
30%
40%
50%
60%
70%
80%
90%
100%
Male Female
% D
iscl
ose
d
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
What Parents SayWhat Parents SayDISCLOSURE
• The child’s right to know
• Responsibility to tell the child
• That the result was good news (i.e., negative test result)
• Prevent child worry
• Promote greater trust/open communication
DISCLOSURE
• The child’s right to know
• Responsibility to tell the child
• That the result was good news (i.e., negative test result)
• Prevent child worry
• Promote greater trust/open communication
NONDISCLOSURE
• Child is too young to hear the information
• Child is too immature to understand the information
• Child would become worried or anxious if he/she knew
• Child is not interested
• Test result alone does not warrant discussion
NONDISCLOSURE
• Child is too young to hear the information
• Child is too immature to understand the information
• Child would become worried or anxious if he/she knew
• Child is not interested
• Test result alone does not warrant discussion
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Attitudes & BeliefsAttitudes & BeliefsStatement Mothers* Fathers*
Children under age 18 should be given the opportunity to be tested for the BRCA1 and BRCA2 gene alterations
31% 40%
Even though the cancers associated with BRCA alterations do not affect children until they reach adulthood, children should still be offered BRCA testing
33% 48%
I am in favor of BRCA1/2 gene testing for children 26% 42%
Even if there is no known prevention, treatment, or cure for the cancers associated with BRCA alterations, children should still be offered BRCA testing
30% 40%
I want my child to be tested for BRCA1 and BRCA2 gene alterations before age 18
14% 23%
The benefits of children participating in BRCA testing outweigh the risks
28% 39%
*t = 3.29, p = .0014Peshkin et al., in press, J. Pediatr. Psychol.
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
DM & CommunicationDM & CommunicationStatement Mothers* Fathers*
Parents should decide if their children are allowed to have a BRCA test or not, even if a doctor disagrees
66% 72%
Children should be involved in making the decision about whether or not they participate in BRCA testing
38% 52%
If children are tested and they turn out to carry a BRCA alteration, they should be told about their test result immediately
26% 39%
If children are tested and they turn out to carry a BRCA alteration, then this information should be shared with the child’s pediatrician
78% 81%
If children are tested and they turn out not to carry a BRCA alteration, they should be told about their test result immediately
59% 62%
*t = 1. 91, p = .05Peshkin et al., in press, J. Pediatr. Psychol.
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Disclosure Process & OutcomesDisclosure Process & Outcomes
• Mothers > fathers
• Gauge children’s readiness
• Medical information OK, need
communication steps
• Selective disclosure is rare
• Conversations are spontaneous, factual–Maternal health/well-being > significance for child
• Mothers > fathers
• Gauge children’s readiness
• Medical information OK, need
communication steps
• Selective disclosure is rare
• Conversations are spontaneous, factual–Maternal health/well-being > significance for child
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Disclosure Process & OutcomesDisclosure Process & Outcomes
• Teenage daughters of carriers
–Discussion of child health
• Disclosure ≠ cancer worry
–Exception = ‘vulnerable children’
• Values-based decision
• Test results = content; ≠ determinant
• Teenage daughters of carriers
–Discussion of child health
• Disclosure ≠ cancer worry
–Exception = ‘vulnerable children’
• Values-based decision
• Test results = content; ≠ determinant
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
• Autonomy - Whose information is it to tell?
• Beneficence - Who benefits, and how?
• Paternalism - What does “maturity” mean, when
who is ready?
• Proxy Rights - “I know my child”
• Fairness - Challenges of differing age children
• Consequences - What is “normal” reaction?
• Parent Guilt - What role does it play?
• Secrecy - Who can children talk to about this?
• Autonomy - Whose information is it to tell?
• Beneficence - Who benefits, and how?
• Paternalism - What does “maturity” mean, when
who is ready?
• Proxy Rights - “I know my child”
• Fairness - Challenges of differing age children
• Consequences - What is “normal” reaction?
• Parent Guilt - What role does it play?
• Secrecy - Who can children talk to about this?
ThemesThemes
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Decision SupportDecision SupportGiven that practice guidelines encourage open
family communication about genetic testing…
1. How can we support parental decision making?
2. What roles, rights, and responsibilities are held by parents, children (especially adolescents), and providers?
3. What is the role of research to inform these decisions and outcomes?
Given that practice guidelines encourage open family communication about genetic testing…
1. How can we support parental decision making?
2. What roles, rights, and responsibilities are held by parents, children (especially adolescents), and providers?
3. What is the role of research to inform these decisions and outcomes?
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
SummarySummary
• Majority of mothers disclose BRCA1/2 test results to children (>70% of adolescents)
• Age, (test result), values/preferences determinants of disclosure
• (Vocal) minority of parents favor pediatric BRCA1/2 testing, majority support parental autonomy
• Disclosure is initiated by mothers, tends to happen quickly, mostly factual, emphasis on ‘knowing your child’ and without guidance
• Majority of mothers disclose BRCA1/2 test results to children (>70% of adolescents)
• Age, (test result), values/preferences determinants of disclosure
• (Vocal) minority of parents favor pediatric BRCA1/2 testing, majority support parental autonomy
• Disclosure is initiated by mothers, tends to happen quickly, mostly factual, emphasis on ‘knowing your child’ and without guidance
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
ImplicationsImplications
• Teenagers, young adults
• DTC testing
• Education, counseling, support
• Preventive tests offered to young, healthy people
• Teenagers, young adults
• DTC testing
• Education, counseling, support
• Preventive tests offered to young, healthy people
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
AcknowledgmentsAcknowledgments
• ELSI Research Program (1R01HG002686, 2R01HG002686)
• Judy Garber, MD, MPH• Andrea Patenaude, PhD• Beth Peshkin, MS, CGC • Marc Schwartz, PhD• Heiddis Valdimarsdottir, PhD
• Tiffani DeMarco, MS• Andrea Forman, MS, CGC• Rachel Nusbaum, MS, CGC• Katherine Schneider, MPH, CGC
• ELSI Research Program (1R01HG002686, 2R01HG002686)
• Judy Garber, MD, MPH• Andrea Patenaude, PhD• Beth Peshkin, MS, CGC • Marc Schwartz, PhD• Heiddis Valdimarsdottir, PhD
• Tiffani DeMarco, MS• Andrea Forman, MS, CGC• Rachel Nusbaum, MS, CGC• Katherine Schneider, MPH, CGC