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Parents’ Reported Likelihood
of Sharing Actionable Vs. NonActionable Genetic Results
Carrie A. Weaver, MA
Melanie Myers, PhD, MS, LGC
Matt Veerkamp, BA
And Cynthia A. Prows, MSN, CNS,
FAAN
Arguments against Returning
Research Results
1. Rests on a mistaken interpretation of
autonomy
– Decision lies in informed consent
2. Poses an unsustainable burden on
research infrastructure
– Money, time
3. Harmful consequences
– Psychological, physical
[1, 4, 6]
Arguments for Returning Research
Results
1. Beneficence
– Increase physical, psychological well being
2. Autonomy
– Choice to be given results
3. Reciprocity
– Results as compensation
4. Disclosure improves public understanding
of genetics
[1, 4, 6]
Present Study
• Sample: 117 parents of children with extra
biological samples for future research stored
at Cincinnati Children’s Hospital
– Case: participant’s child exposed to opioids
• (n= 55, 47.01%)
– Control: participant’s child without previous exposure to
opioids
• (n= 62, 52.99%)
– Samples genotyped for CYP2D6 to determine
predisposition for codeine response. Results given to
parents over the phone
Methods
• Return of eMERGE research results survey
– Adapted from Haga et al. (2012)
• Similarities:
– telephone interviews concerning genomic results
• Differences:
– hypothetical testing vs. actual pharmacogenetic
testing and returning of results
– Adults answering questions about their own
hypothetical results vs. parents answering
questions about their child’s actual result
– Survey administered immediately following result
disclosure
• If not possible then within 1 week of return of results
• 10 to 20 minutes to complete
Actionability Classification
• Actionable
– 1 CYP2D6 gene that does not make enzyme and 1 CYP2D6 gene
that makes an enzyme that does not work as well as expected
– 2 CYP2D6 genes that do not work
– at least 3 CYP2D6 genes that work well
• Potentially actionable
– 1 CYP2D6 gene that makes normal amount of enzyme and one
gene that makes enzyme that does not work as well as expected.
– 1 CYP2D6 gene that makes normal amount of enzyme and one
gene that does not.
– 2 CYP2D6 genes that make enzyme that does not work as well as
expected
• Not actionable
– 2 CYP2D6 genes that make normal amounts of enzyme
Hypotheses
• Child’s previous opioid exposure will influence
parents’ likelihood of sharing results with health
care providers
• Parents who receive actionable results will be
more inclined to share results with health care
providers
Analyses
• Data analyzed with PSPP and JMP
• Descriptive statistics
– Frequencies
• Pair-wise comparisons
– Wilcoxon Rank Sum
Demographics
Demographic
Frequency
(%)
Education
Some High School
2
(1.71%)
HS grad/GED
19
(16.24%)
Some college/2year
27
(23.08%)
4 year college
48
(41.03%)
4 year +
21
(17.95%)
Income
Less than $25,000
9
(7.69%)
$25,000 to $49,999
12
(10.26%)
$50,000 to $74,999
24
(20.51%)
$75,000 to $99,999
26
(22.22%)
More than $100,000
36
(30.77%)
Refused
8
(6.84%)
Don’t know
1
(0.85%)
Race (N=117)
4 4
109
Demographics
Demographic
Frequency
(%)
Worked in Health Care
Yes
56
(47.86%)
No
61
(52.14%)
Yes
116
(99.15%)
No
1
(0.85%)
Actionable
7
(5.98%)
Potentially
69
(58.97%)
Not Actionable
41
(35.04%)
Has Health Insurance
Actionability
My child’s doctor can use this CYP2D6 research test result
when providing care to him/her. Would you say you…
Metabolizer
type
Strongly
agree
Somewhat
agree
Somewhat
Disagree
Strongly
disagree
Total
Actionable
7
0
7
(5.98%)
Potentially
actionable
62
7
69
(58.97%)
Not
actionable
29
12
41
(35.04%)
98 (83.76)
19 (16.24)
N=117
Total [n (%)]
Potentially Actionable vs. Not Actionable:
p=.0041
100.00%
How likely are you to share (your child’s)
CYP2D6 research test result with his/her doctor?
Metabolizer
type
Extremely
likely
Somewhat
likely
Not very
likely
Not at all
likely
N (%)
Actionable
7
0
0
7 (5.98)
Potentially
actionable
59
10
0
69 (58.97)
Not
actionable
19
20
2
41 (35.04)
85 (72.65)
30 (25.64)
2 (1.71)
117
(100.00)
Total [n (%)]
Not actionable vs. Actionable: p=.0220
Potentially Actionable vs. Not Actionable: p=.0012
98.29%
How likely are you to share your child’s CYP2D6
research test result with his/her pharmacist?
Metabolizer
type
Extremely
likely
Somewhat
likely
Not very
likely
Not at all
likely
N (%)
Actionable
3
3
1
0
7 (6.03)
Potentially
actionable
21
32
12
3
68 (58.62)
Not
actionable
7
13
13
8
41 (35.34)
31 (26.72)
48 (41.38)
26 (22.41)
11 (9.48)
116
(100.00)
Total [n (%)]
Not significant.
68.10%
Discussion
• Actionability confers clinical utility.
– Clinical utility: a result is clinically useful when it leads to an
improved health outcome [1]
• Results, regardless of category, have personal utility
– Personal utility: a result is personally useful when the outcome
has value to the individual
• Replication of literature suggesting individuals want to
receive results [2,5,6]
Acknowledgments
– John B. Harley, M.D., Ph.D.
– Andrea Murad, B.A.
– Brooke McLaughlin, M.S.
– Lisa Martin, Ph.D.
– Cincinnati Children’s Research Foundation
– Cincinnati Genomic Control Cohort
References
1.
2.
3.
4.
5.
6.
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Haga, S. B., O’Daniel, J. M., Tindall, G. M., Lipkus, I. R., Agans, R. (2012). Survey of US public
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