family communication about cancer genetic testing: parent-child perspectives

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


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


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


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


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?


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


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?


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


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


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


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


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


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


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.


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.


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


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


• 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


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?


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


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


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

family communication about cancer genetic testing: parent-child perspectives

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