Transcript PLATFORM ABSTRACTS MASTER

Not What We Went Looking For
Ethical, Legal, and Social Issues in Identification
of Sex Chromosome Variations
Arlene M. Davis, JD
Assistant Professor
Department of Social Medicine
Investigator
Center for Genomics and Society
University of North Carolina, Chapel Hill
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Fellow CGS Researchers
Nancy M.P. King, JD
Department of Social Sciences and Health Policy
Wake Forest University School of Medicine
Cynthia M. Powell, MD
Department of Pediatrics
University of North Carolina, Chapel Hill
Ian Whitmarsh, PhD
Department of Anthropology
University of Iowa
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Overview of Presentation
• Technologic and societal changes
regarding screening and genetics
• Intended or incidental
– Identification of sex chromosome
variations (SCVs) in genetic screening
• Data from two interview studies
• Implications
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Changing Landscape
• 2006 Supplement to
Pediatrics:
A Look at Newborn
Screening: Today and
Tomorrow
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Genetic Screening & SCVs
• Genotype vs.
• Detected: incidentally
phenotype – wide
during prenatal
variation in
screening or when
presentations
symptoms are identified
• People may do well,
• Proposed NBS
methodologies detecting whether or not the
SCV is ever
X-linked conditions may
identified
also detect SCVs
• Some struggle with
• Early intervention &
life-long medical,
detection of medical
learning, &
problems may be
behavioral issues
beneficial
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Screening May Identify SCVs
Turner (45,X)
Klinefelter (47,XXY)
• 1/4000-1/5000 girls
• 1/1000 boys
• Symptoms vary and
• Symptoms vary and
may include:
may include:
– Short stature* (4’7”) – Tall stature
– Delayed puberty*
– Low testosterone/
– Infertility*
puberty*
– Hearing impairment,
lymphedema,
– Infertility
cardiac & kidney
– Behavioral problems
problems, learning
& learning disabilities*
disabilities
• Some never diagnosed • 60-70% never diagnosed
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Our Two Interview Studies
Family Study
New Mothers’ Study
• 14 families of children • 28 mothers of infants
with 45,X and 47,XXY
– Mothers’ ages:19-45
years
– Parents’ ages: 30s50s
– Infants: 8-12 weeks
– Children: 1-16 years
• Questions: views on
– Families with KS: 6
expanding NBS to
– Families with TS: 8
include specific SCVs
• Questions: diagnosis &
care for children and
interest/concerns
about NBS to identify
SCVs
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Family Study Results Inform
Mothers’ Study Questions
Family Study
• Parents embrace
uncertainty about
condition, focus on:
–Individuality of child
–Her accomplishments
• Argue: w/o symptoms,
syndrome doesn’t exist
Whitmarsh, I. et al. (2007). A
place for genetic uncertainty.
SS&M, 65: 1082-1093.
New Mothers’ Study
• Should SCV screening be
offered? Would you accept?
• Would it matter that:
– Often no medical treatment
until symptoms develop?
– Some show few symptoms
while others have many?
– Some may live entire lives
without diagnosis?
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Perceived Benefits
Identifying SCVs with NBS
Family Study
New Mothers’ Study
• Early intervention
• Early intervention
• Have an explanation • Gives an opportunity to:
• Might not be detected – prepare financially
otherwise
– prepare emotionally
– research resources
before symptoms arise
– learn more about child
• Peace of mind if results
are negative
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Perceived Concerns
Identifying SCVs with NBS
Family Study
• Increase worry
• Increase sense of guilt
• Diagnosing all
behaviors
• Some families: offer
testing when
symptoms arise
• Chromosomal
diagnosis=“syndrome”
New Mothers’ Study
• Parents might jump to
conclusions about
child’s prognosis
• Symptoms may never
present
• Offer screening for older
babies, not newborns
• Confidentiality breaches
• Accuracy and expense
of screening
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Views
Family Study
New Mothers’ Study
Mother of son with KS
on getting diagnosis:
•“Well, you find out
and then you don’t
know any more than
you did before you
found out.… It’s just,
you just know that
he has an extra
chromosome and
that’s as far as it
goes.”
New mothers regarding
some have few symptoms
while others have many:
•“I am interested in
knowing if she has it, not
in how severe it may be.”
•“That’s the one where it
makes me wish that we
just wait and get him
screened if he had any
symptoms.”
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Views
Family Study
New Mothers’ Study
Grandmother of a
teenager with Klinefelter:
•“He’s really not a full
blown Klinefelter, he’s
just a borderline….You
know, he’s just a little
Klinefelter’s, he’s not a
lot Klinefelter’s.”
Father of girl with Turner:
•“I don’t think Turner’s
exists without some of
the physical aspects of it.”
New mothers regarding
some live their entire lives
without a diagnosis:
•“If he does not have
symptoms, and I do not
have a reason to think he
has it, there is no reason
to do this test.”
•“The possibility that she
would have severe
symptoms [is] enough
to make me want to know.”
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Conclusions
New Mothers’ Study
• Most said they would want screening for SCVs.
• “If it’s there, you would want to know about it.
Even if it’s mild or asymptomatic. I mean, I
would still want to know about it.”
• They believed diagnosis would provide access to
early intervention services they thought would be
beneficial.
• Some viewed screening as peace of mind,
assuming the results would be negative.
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Implications
Our Views of Screening and Genetic
Variation
Who Controls Meaning of Genetic
Information?
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One Presentation of
Our Future
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Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Thank You
[email protected]
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Enrollment of Children in a
Study of Huntington's
Disease
Leon S. Dure, MD
Bew White Professor of Pediatrics and Neurology
The University of Alabama at Birmingham
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Clinical Features of HD
• Prevalence
• Inheritance
4 – 10/100,000
Dominant
High penetrance
Expansion of htt gene
• Age of onset
35 – 45 yrs
(range 2 – 80)
<10% under 18 yrs
• Duration
15 – 30 yrs
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
HD Genetics
• Expansion of translated CAGn, chromosome 4p
–
–
–
–
Polyglutamate motif (similar to MCD, SCA-1, etc.)
CAG > 39 correlated with clinical disease
Age of onset inversely related to CAG expansion
Testing easily done – not highly accessed
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Clinical Presentation of HD
• Initial signs and symptoms
– Chorea, incoordination, personality changes
– Psychiatric diagnoses common
• Later signs and symptoms
–
–
–
–
Progressive chorea, dystonia
Dysarthria
Dementia, ongoing psychiatric disturbances
Early death
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HSG - COHORT
“Framingham study for HD”
• Scientific rationale
• Innovations
– Inclusion of spouses and 1º relatives
– Inclusion of minors
– Biobank repository
– Comprehensive environmental history
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Concerns for COHORT
• HD family attitudes
– Clinical research in general
– Research involving minors
• Logistics of assent and consent
– Departure for HSG
– Age and development specific process
– Practical question – what and how are children to be
approached?
• When do they know about HD?
• What do they know?
• What would be the effect of participation on children?
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Dataset Development
• Pilot Internet survey targeting HD families
– HDSA website
– HSG website
• Advantages
– Inexpensive
– Anonymous
• Disadvantages
– How representative are responses?
– Limited information
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HD Parent Survey
• 6 months duration
• 249 respondents
• Survey design
– Basic demographics
– Gene status
– Family information – children, risk,
understanding
– Attitudes regarding research for adults
and children
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Respondent Characteristics
• Gender – 81% female
• Mean Age – 42 yrs (F = 40y, M = 48y)
• Gene status
– 42% not at risk/gene negative
– 37% at risk
– 18% gene positive
• Clinical research
– 84% never participated in HD clinical research
• Children of respondents
– 225 reported from 75% of respondents
– Mean age 11yrs
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Informing Children
• 62% had provided information of
some type
– Average age of respondent = 47y
– < 50% of AR parents had informed
• Age of children
– Current average = 14y
– Age informed = 12y
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Uninformed Children
• Average age = 7y
• Gene status of parents
– AR = 47%
– NEG = 35%
– POS = 18%
• Reasons for not informing
– Age
– Sparing distress
• Appropriate age to inform
–
–
–
–
Wait until adulthood – 8%
15-18y – 44%
10-14y – 26%
5-9y – 16%
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Attitudes Towards Research
• Adults regarding themselves
– 88% Agree/Strongly agree that symptomatic and at-risk
persons should participate
– No major differences regarding gene status
• Adults regarding children
– 55% agree that children should participate
– 35% neutral
– 10% disagree with participation
• Age for participation
– 51% greater than 14yrs
– 29% 10-14yrs
– 20% less than 10yrs
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Adult/Parental Concerns
• Adult participation
– Insurance
– Confidentiality
• Child participation
– Child’s understanding of the study
– Most commonly cited – “psychological
effect of participation”
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Clinical Activities in COHORT
• Yearly neurologic examination
– 63% supportive
– Age – 47% 15-18y
• Blood specimen for research and “DNA
testing”
– 49% supportive
– Age – 45% 15-18y
• Statistically, AR group was least likely to
be supportive of examination/blood
specimen
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Summary/Conclusions
• Parental support for inclusion of children in
COHORT
– Older children
– Informed children
• Importance of family composition/gene
status/symptom presence
– Not all families inform children at the same time
– Clinical activities of COHORT will need to be tailored to
parental concerns
• Need to develop strategies to assess childhood
understanding of HD
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Genetic Screening in CVID:
What are we looking for?
Kristen Hayward, MD
Fellow, Pediatric Rheumatology
Seattle Children’s Hospital
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the Case
16 m.o. F presents for immune work-up
Past Medical History:
term, healthy
2 infections treated with oral antibiotics
mild eczema
Family History:
Dad: immunodeficiency syndrome (CVID)
•sepsis, anemia, thrombocytopenia
•splenectomy, steroids, IV immunoglobulin
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
the Case
(continued)
Physical Exam:
normal growth & development
normal exam
Labs:
mild anemia
normal vaccine responses
normal antibody levels
Mom’s concern:
Should we send a genetic test for CVID?
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
What is CVID?
Common Variable Immunodeficiency
 Incidence: 1/10,000 – 50,000 in U.S.
 Presents in 2nd – 3rd decade of life
•recurrent bacterial infections
•chronic lung disease
•autoimmune phenomena
•malignancies
 Inheritance:
• 90% sporadic
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
What is CVID?
Treatment:
• replacement immunoglobulins (IVIG)
• timely antibiotics
Prognosis:
• mortality 20-30% over 30 years
Diagnosis:
• clinical and laboratory criteria
So what about genetic testing?
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Genetic Testing in CVID?
TACI gene:
mutation in 7-10% of CVID cases
good biologic plausibility
same change found in
asymptomatic family members
Father’s TACI gene analysis:
single amino acid substitution
described on OMIM, not validated
mutation or variation?
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Back to the CASE…
Should we
test our patient
for a TACI
mutation?
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How do we decide?
Burke, Pinsky & Press framework
Yes
No
High
Low
Burke, Pinsky, Press, American Journal of Medical Genetics 106 (2001), pp. 233–240
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Clinical Validity?
Genetic test for CVID
“Positive” result
“Negative” result
- Unclear if causative - Unclear if causative
- Unclear penetrance - Baseline risk based
on family history
- Unclear age of onset
Indeterminant clinical validity
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Effective Treatment
for CVID?
No preventative therapies
No cure
Supportive care:
- Timely antibiotics can be life saving
- IVIg may improve outcomes
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
What are the issues?
Labeling
Effects
Vulnerable child?
Future insurability?
Health
Outcomes
Closer follow-up?
Earlier detection?
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What would YOU do?
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the Case
What happened?
Patient underwent genetic testing:
same TACI sequence as her father
26 months:
developed arthritis in multiple joints
started treatment within 8 weeks
36 months:
low WBC, low antibodies
started replacement IVIG
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
What was the family’s
perspective?
Testing was a good thing
Altered perception of child
- Convinced that child had disease
Value of information
- Empowered to seek appropriate care
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Provider’s perspective?
More questions than answers
Test may be more valuable in time
Treatment dilemmas:
- Usual medications?
- Increased risk of malignancy, infection?
test most appropriate for research setting
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Summary
 Become familiar applying the
Burke, Pinsky, & Press model to evaluate
genetic tests for pediatric diseases
 Identify dilemmas arising from genetic tests
with low or indeterminate clinical validity
 Recognize differences between provider
and family perceptions of genetic testing
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Thank you
Truman Katz Center
for Pediatric Bioethics
-Doug Diekema
-Doug Opal
UW Public Health Genetics
-Kelly Fryer-Edwards
Pediatric Rheumatology
and Immunology Departments
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Attitudes toward carrier
testing of minors
A study of families with X-linked &
autosomal recessive diseases
Cynthia A. James, ScM, PhD
Genetic Counselor
Johns Hopkins ARVD Program
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Purpose of the study
To investigate the desirability of and
rationale for/against carrier testing of
minors among members of families
affected by X-linked (XL) and
autosomal recessive (AR) conditions
– Attitudes of adolescent and adult
siblings
– Influence of mode of inheritance of the
disease on attitudes
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Chronic granulomatous disease
• Primary immunodeficiency disorder
characterized by recurrent fungal and
catalase positive bacterial infections
• Incidence: 1/200,000
• Mortality: 2- 5% per year
• 2/3 XL, 1/3 AR
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Duchenne & Becker muscular dystrophy
• X-linked
• Duchenne
– Diagnosis age 3-5
– Loss of ambulation age 9-12
– Death in 20’s - early 30’s
• Becker
– Diagnosis around age 12 (varied)
– Loss of ambulation in 20’s
– Survival well into adulthood
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Spinal muscular atrophy (II & III)
• Autosomal recessive
• Type II
– Onset < 18 months
– Children learn to sit unaided +/- walk
– Death late adolescence / young adulthood
• Type III
– Onset > age 2
– Loss of ambulation variable - adolescence /
adulthood
– Normal lifespan
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Recruitment
• CGD
– Registry of U.S. Residents Affected by CGD of
the Immune Deficiency Foundation
– NIH Clinical Center intramural studies on CGD
• Neuromuscular conditions
– Maryland/Southern Delaware and Washington
DC Chapters of the Muscular Dystrophy
Association
• Mailed invitations to participate
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Methodology overview
• Interview phase
– Semi-structured telephone interviews with 14
parents and 9 adolescent sisters (age 12-15)
from 10 families with CGD
– Qualitative analysis (template analysis)
• Questionnaire phase
– Mailed questionnaires completed by 206 (54%
response rate) parents, adult siblings, and
adults with CGD, muscular dystrophy and SMA
– Quantitative analysis
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Interviews
• Semistructured telephone interviews
• 20 - 90 minutes
• Topics
– Family and medical history of CGD
– Impact of CGD on the family
– Perceptions of genetics of CGD
– Perceptions of reproductive risks
– Family communication
– Attitudes toward carrier testing of minors
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Perceptions of the “best” age for
carrier testing
Age
Young as possible
Puberty
Mid-teens
18 or older*
Parents
(n =14)
4
8
1
1
Sisters**
(n = 9)
0
3
1
4
* Parents were significantly more likely than girls to
favor carrier testing before age 18 (p<0.05)
**One girl thought there was no ideal age for carrier testing
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Risks and benefits of carrier testing - parents
• Test prior to adolescence
– Parental role both in caring for child both
medically
“a good parent knows as much health information as
possible” (mother, AR)
– & emotionally
“I would want to cultivate a positive attitude about the
news as early as possible” (mother, AR)
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Risks and benefits of carrier testing - parents
• Test at adolescence
– It is vital to know carrier status before
becoming sexually active and may affect
choices re. sexual activity
“If a girl knows at 14 – hey, I could get mixed up with
the wrong guy and end up with a child of my own,
like my brother – maybe she would think twice…”
(mother, AR)
– Girls are ready to understand both intellectually
and emotionally the meaning of test results
– Adolescents have the right to know their carrier
status
“They grow up with CGD in the family, it’s their right to
know whether they are carriers” (mother, XL)
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Risks & benefits of testing - adolescents
• Girls believed it important to have access to
carrier testing for reproductive decision-making
• Girls were more cognizant of psychological risks
– “Around 18, because when you’re younger it’s probably
harder to take the news and you’d be worried about ever
having a husband because you’d be like ‘oh what would
we think if we had a child like that? Would he still like
me?’” (XL – age 12)
– “ I don’t think they should do it when they are real young,
I think about my age (15) is good – if they are young and
they found out about it then they will worry about it a
whole lot” (XL – age 15)
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Desirability of hypothetical test
• 5/6 untested girls had clear ideas on
whether they would want testing were
it hypothetically offered “tomorrow”
• Among the 9 parents, 4 had
discordant views from their daughters
on the desirability of the girl having
the test “tomorrow”
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Parental Predictions
• 5/11 predictions (4 from fathers) of whether
their children would say they wanted
testing were incorrect
“I would think she would (want carrier testing)… She’s an
extrovert… and she’s not bashful about those things.
And I think she’d want to know once she understood the
magnitude of…. what it could mean to her in the long
run” (father, XL)
“ I want to know for myself but I don’t think I want to know
now. I don’t want it to overpower my life. I don’t want to
stay up nights thinking,… OK from this point on I’m not
going to have kids…” (age 12, XL)
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Questionnaires
• Mail questionnaires
• Administered to parents, adult siblings, and adults
with CGD, MD, SMA. (9 versions)
• 30 minutes
• Topics:
–
–
–
–
–
–
Family history
Clinical severity & perceived severity
Understanding of inheritance & reproductive risks
Parental guilt and blame
Stigma
Attitudes toward carrier testing of minors
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
“Imagine you had a 3/13 year-old daughter who had
a chance of being a carrier. Also imagine the carrier
test is a blood test and is 100% accurate. Would
you have her tested at age 3/13?”
% w h o w o uld t e s t d a u gh t er
100
XL CGD
AR CGD
XL neuro (MD)
AR neuro (SMA)
80
60
40
20
0
3 year-old
13 year-old
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Logistic regression - carrier testing for a
minor daughter
Three-year old
Variable
Mode of inheritance
(0=XL)
Condition
(0=CGD)
Coefficient
(SE)
0.96 (0.38)
Odds ratio
(95% CI)
2.6 (1.2-5.5)
p-value
(<)
0.05
1.5 (0.39)
4.6 (2.1-9.9)
0.001
Coefficient
(SE)
1.5 (0.51)
Odds ratio
(95% CI)
4.6 (1.7-12.4)
p-value
(<)
0.01
0.99 (0.53)
2.7 (0.96-7.6)
0.1
Thirteen-year old
Variable
Mode of inheritance
(0=XL)
Condition
(0=CGD)
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Reasons for/against testing
“How important would each of the
following reasons be in your decision
of whether or not to have her tested
at age 3/13?”
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Rationale for Testing
Parental Role
3yo 13yo
(%) (%)
I could make plans to tell her about her genetic risk
98
94
As a parent, testing would give me peace of mind
94
83
A good parent knows as much as possible about
anything related to the health of their child
94
98
She could be raised (go through her teens) knowing 91
her carrier status. I could help her adjust to her
genetic risk
100
I would be able to answer questions about whether
or not she is a carrier when she asks them
99
90
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Rationale for testing
Psychosocial Risks
3yo 13yo
(%) (%)
She might experience insurance, educational, or job 44
discrimination someday if she is a carrier
35
Learning she is a carrier too early could scare her
39
37
Other people might treat her differently if they find
out she is a carrier
31
20
Testing might damage her self-image and selfesteem
32
27
I might treat her differently if she is a carrier
23
18
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Rationale for testing
Reproductive issues
3yo 13yo
(%) (%)
She would be certain to know and understand her
genetic risk before she becomes sexually active
96
98
She would be able to start a romantic relationship
knowing whether she is a carrier
86
90
Finding out whether or not someone is a carrier is
only important when they could have/are planning
children. The test results wouldn’t be important at
her age.
30
43
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Rationale for testing
Informed consent
3yo 13yo
(%) (%)
A person should have a say in making a decision
about whether to know their carrier status and a 3
year-old is too young to provide an opinion / at 13
she would be old enough to help make the decision
26
66
She would be too young / old enough to understand
what the results mean
33
85
A person has the right to decide as an adult whether 13
to find out if they are a carrier. If I tested her I would
take away that right.
21
A blood test is painful.
7
10
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Rationale for NOT Testing
Informed consent
3yo 13yo
(%) (%)
A person should have a say in making a decision
about whether to know their carrier status and a 3
year-old is too young to provide an opinion / at 13
she would be old enough to help make the decision
78
46
She would be too young / old enough to understand
what the results mean
80
65
A person has the right to decide as an adult whether 56
to find out if they are a carrier. If I tested her I would
take away that right.
47
A blood test is painful.
7
33
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Rationale for NOT testing
Psychosocial Risks
3yo 13yo
(%) (%)
She might experience insurance, educational, or job 53
discrimination someday if she is a carrier
43
Learning she is a carrier too early could scare her
83
60
Other people might treat her differently if they find
out she is a carrier
44
50
Testing might damage her self-image and selfesteem
50
58
I might treat her differently if she is a carrier
13
14
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Conclusions
• There is widespread support of carrier
testing of minors among adult members of
families affected by XL and AR genetic
conditions
– Fulfilling parental role
– Protection from uninformed reproductive
decision-making
• Adolescent and adult family members
perceive the risks and benefits of carrier
testing differently
– Adolescents perceive more psychosocial risks
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Recommendations
• Maintain current policies regarding
deferring carrier testing of minors
• Genetic counseling and other medical
sessions should attend to perceived
benefits of carrier testing of minors.
• Further research into the experiences
of adolescent family members
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Acknowledgements
Johns Hopkins
Neil A. Holtzman, MD MPH
Jerry A. Winkelstein, MD
Karl Broman, PhD
Kathy DeVet, PhD
Dave Valle, MD
Crystal Tichnell, MS
Hugh Calkins, MD
NIH
Don Hadley, MS (NHGRI)
Harry Malech, MD (NIAID)
Steve Holland, MD (NIAID)
John Gallin, MD (NIAID)
Muscular Dystrophy
Association
Immune Deficiency
Foundation
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
The Public Health Value of
Prenatal Screening
Victoria Seavilleklein, PhD
Clinical and Organizational Ethics Fellow
Joint Centre for Bioethics
University of Toronto, Canada
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Prenatal Screening (PNS)
• Multiple marker screening (maternal serum
screening and nuchal translucency
screening)
• Used to detect likelihood of conditions
• Positive screen → CVS/amniocentesis →
abortion
• Traditionally:
– Down syndrome, open neural tube defects,
Trisomy 18
– Offered to ‘high-risk’ women
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Overview
• Prenatal screening is expanding
• Autonomy and public health relied
upon to justify PNS and its expansion
• Argue that PNS isn’t justified on the
basis of public health
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Public Health
• Multiple definitions, no single field,
discipline or methodology
• “The science and art of promoting
health, preventing disease,
prolonging life and improving quality
of life through the organized efforts of
society.” (Health Canada 2003)
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
PNS as a Public Health
Initiative
• Offered population-wide
• Coordinated by health clinics and
hospitals, often provincially funded
• Intended to reduce the incidence of
illness and disability, thereby
improving population health
• Broadly recognized by PH agencies,
clinicians, in conferences & literature
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Challenges to PNS as a Public
Health Strategy
1) Morally problematic definition of
‘prevention’
2) Contested benefit/burden ratio
3) Limited effectiveness
4) Negative consequences for people
with disabilities and society
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
1) Definition of ‘prevention’
• Preventing the person, not the
condition
• No ‘treatments’ or ‘cures’, just
abortion
• Morally problematic because it
devalues people with disabilities
• Poor track record of discrimination,
past and present
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
2) Burdens and Benefits
• Ideally, those who suffer the burdens of PH
initiatives will benefit from them
– Not always the case with women and fetuses
• To justify a population screen, “the disease
or condition should be an important public
health burden to the target population in
terms of illness, disability, and death”
(Khoury et al., 2003, 55).
– The burden of people with disabilities is
debated
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
3) Limited Effectiveness
• ~5% of disability due to genetics
– Most common causes: Low birth weight
and prematurity
• Cost-effectiveness
– Based on the abortion of fetuses with
projected disabilities
– Challenges with cost-benefit analyses
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
4) Negative Consequences
• For people with disabilities
– Reinforces a medical model of disability
– Focus on avoidance, less on integration
• For mothers and families
– Increased care responsibilities
• For society
– Discrimination, social justice
– Public policy message of devaluation
– Socioeconomic disparities
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Conclusion
• Public health resources would be better
spent elsewhere
–
–
–
–
Morally problematic definition of ‘prevention’
Contested benefit/burden ratio
Limited effectiveness
Negative consequences
• Routinely offering PNS isn’t justified
according to the value of public health
Treuman Katz Center for Pediatric Bioethics - 2008 Conference
Thank you!
Questions?
Treuman Katz Center for Pediatric Bioethics - 2008 Conference