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Physician-Mediated Elective
Whole Genome Sequencing Tests:
Impacts on Informed Consent
Emily Qian, MS, CGC
Petrie-Flom Center Annual Conference
Consuming Genetics: Ethical and Legal Considerations of New Technologies
May 17, 2019
Disclaimer/COI
I am a full-time employee at Veritas Genetics.
Genetic Testing Process
ResultsSample
Collected
Laboratory
Analysis &
Interpretation
Symptoms
Genetic Testing Process
ResultsSample
Collected
Laboratory
Analysis &
Interpretation
Symptoms
Genetic Testing Process
ResultsSample
Collected
Laboratory
Analysis &
Interpretation
Symptoms
Test Authorization &
Informed Consent
Service Delivery Models
Direct-to-consumer (DTC)
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No healthcare provider (HCP) involvement
Physician-initiated
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HCP initiates discussion and guides selection
Physician-Mediated
Direct-to-Consumer (PM-DTC)
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HCP involved, usually test order is initiated by the consumer
Key Stakeholders
For PM-DTC genetic testing:
1. The Consumer
2. The Healthcare Professional (HCP) providing test authorization
3. The Clinical Laboratory performing the test
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What is “Informed Consent”?
Informed Consent is a Process
American Medical Association:
Code of Medical Ethics Opinion 2.1.1
“The process of informed consent occurs when communication between a patient
and physician results in the patient’s authorization or agreement to undergo a
specific medical intervention…”
a) Assess the patient’s ability to understand relevant medical information…
b) Present relevant information accurately and sensitively…
I. …the burdens, risks, and expected benefits of all options…
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https://www.ama-assn.org/delivering-care/ethics/informed-consent
Accessed May 9, 2019
Topics Covered During Informed Consent
• Test purpose
• Possible results & consequences
• Testing limitations
• Confidentiality and privacy
• Risks of testing & familial implications
• Voluntary participation
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Veritas
myGenome
Lifestyle
Traits
Disease
Risk
Ancestry
Pharmaco-
genomics
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PAGE 1 OF 6
What types of healthcare
providers authorize consumer-
initiated genetic testing?
Study Design
• First 500 samples
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Study Design
• First 500 samples
• NPI number data
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NPI 1234567890
Taxonomy Practice Location
Analysis: HCP Demographics
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69%
2%
3%
26%
Primary Care-Like
Genetics
Complementary & Alternative Medicine
Specialists
Primary Care-Like:
MD, DO, NP, PA
Internal Medicine
Family Medicine
Etc.
Analysis: HCP Demographics
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69%
2%
3%
26%
Primary Care-Like
Genetics
Complementary & Alternative Medicine
Specialists
Genetics:
MD, MS
Medical Genetics
Genetic Counselors
Analysis: HCP Demographics
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69%
2%
3%
26%
Primary Care-Like
Genetics
Complementary & Alternative Medicine
Specialists
Complementary &
Alternative Medicine:
DC, ND, NMD
Chiropractors
Naturopaths
Analysis: HCP Demographics
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69%
2%
3%
26%
Primary Care-Like
Genetics
Complementary & Alternative Medicine
Specialists
Specialists:
MD
DO
PharmD
DPM
(Podiatrists)
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Study Design
• First 500 samples
• Family name “match”
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Qian Dr. Qian Match&
Analysis: Family Name
• N=22 (4.4%) matches
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Informed Consent: Whose responsibility?
Consumers
Provided with
reasonable notice
& opportunity
???
HCPs
Results raise suspicion
that a portion may
have difficulties with
aspects of informed
consent process
• Genetic literacy
• Familial relation bias
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Laboratory
Provide informed consent
documents available on
website
Availability of clinical staff
to answer questions
• Low uptake of internal
clinical services
• Clickwrap may not be
adequate
Questions Raised
• Why are consumers choosing to pursue test
authorization from friends and family?
• Ease of access?
• Privacy concerns?
• Coercion?
• How do we ensure informed consent is responsibly
executed?
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Acknowledgments
Birgit Funke, PhD, FACMG
Magalie Leduc, PhD, FACMG
Genetic Counseling
• Sharon Namaroff, MS, CGC
• Rebecca Hodges, MS, CGC
• Lisa Paglierani, MS, CGC
• Laurie McCright (GC Assistant)
Operations
• Ryan Durigan
Bioinformatics
• Bryan Cosca
Design
• Monika Chas
And the rest of the Veritas team!
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