1. What Data to Give Back & How
Learning from Idiopathic Disease Sequencing
Case Studies
Cinnamon S. Bloss, Ph.D.
Director of Social Sciences & Bioethics
Scripps Translational Science Institute
@CinnamonBloss
Future of Genomic Medicine VI
2. Main Points of Interest
1. Who are the patients (and physicians)?
Unique, not representative of all who may benefit.
2. What are their attitudes and expectations?
Expect access to data beyond the presenting condition.
3. How well do physicians return results?
Physicians, as a group, may need help with this.
3. Idiopathic Diseases of huMan
Sequencing for Diagnosis & Treatment of Idiopathic Diseases
Study Criteria:
1. Condition serious and undiagnosed
2. Sequencing may be informative
3. Physician Champion to return results
4. IDIOM Procedures
Fall 2011
7th Patient Enrolled Screening
N=5 Data Available
Clinician-Scientist Panel Review
Enrollment
Psychosocial / Ethics
Seq, Analysis & Report
Return 1° Results to Phy Champ
Phy Champ Returns to Patient
Psychosocial / Ethics
6. Psychosocial / Ethics
Domain Instrument
Quality of Life
WHOQOL Grp (1998)
Patient Characteristics Genetic Knowledge
Calsbeek et al. (2007)
Physician Characteristics Diffusion of Innovations
Armstrong et al. (2003)
Whole Genome Sequencing Ques
Ormond et al. (2012)
Attitudes Towards Secondary Findings
Sequencing Mayer et al. (2011)
Personal Involvement Inventory
Zaichkowsky (1994)
Medical Communication
Physician Communication Competence
Cegala et al. (1998)
Decision Regret Scale
Brehaut et al. (2003)
Impact of Sequencing
Impact of Events Scale
Horowitz et al. (1979)
Pre- and Post-Seq Structured Patient Interviews
8. Panel Review
Ineligible Panel Reviewed p
N 47 21 (31%) -
Age (years) 47 26 <.001
Physician Referral 36% 71% .04
Cardiology Allergy/Immun
Top 3
Internal Med Oncology .046
Medical Specialties
Neurology Neurology
Enrolled 10% of Referred Cases
13. How would you grade your physician?
Communication
Knowledge A
Explanations B
Solicits Ques B-
Spends Time C
Repeats Info B
Overall B-
14. Physician “Self-Grading”
Pre-seq Patient Grades Physician
Post-seq Patient Grades Physician
Post-seq Physician Grades Self
60
A+
50
A 40 Patient-Physician
Discrepancy
30 p=.04
B
20
B-10
0
F
-10
-20
-30
Case 1 Case 2 Case 3 Case 4
Medical Communication Competence Scale
15. Return of Results Discrepancy
Mother
Strongly Father
Agree 3 Physician
Agree 2
Slightly
Agree 1
Neither 0
Slightly
Disagree
-1
Disagree -2
Strongly
-3
Disagree
Knowledge Knowledge Explained Reviewed Ensured Encouraged Spent Adequately
about about what the or repeated patient patient to enough explained
genetics WGS results important understood ask time WGS
were information questions explaining results
overall
17. Post-Sequencing
"We took several hours post-[testing to discuss results]
which is not feasible in general practice.” - Physician Case 1
"Make it faster so it's more relevant.” - Patient Case 2
"Do not depend on [a] child's doctor to…transfer such
important information.” - Father Case 3
• Mild to no sequencing-related distress, little to no regret
• 75% physicians & 50% patients suggest added clinician
18. Barriers
Cost Efficiency, Privacy Concerns / EMR, Turn-around
Time, Few Genetic Counselors, Secondary Findings,
Return of Results, Physician Training
19. Genomic Medicine Education Initiatives
University/Medical School Year Program Description
U of Rochester School of Medicine 1999 Double Helix Curriculum
U of Miami Miller School of Medicine 2005 Pathway in Human Genetics and Genomics
U of Pennsylvania School of Med 2008 Personalized Medicine Course
Johns Hopkins School of Medicine 2009 Genes to Society Curriculum
Tufts University 2009 Personal Genomics Course
Ohio State University 2010 P4 Scholar’s Program in Personalized Med
Stanford University 2010 Genomics and Personalized Medicine Course
Georgetown Univ School of Medicine 2010 Molecular and Human Genetics Module
SUNY Upstate Medical Univ 2010 Personalized Medicine Elective
Baylor College of Medicine 2011 Genetics Track Curriculum (undergrad)
New York University 2012 Practical Analysis of Your Personal Genome
Beth Israel Deaconess Medical Ctr 2012 Pathologist Genomics Training Program
U of Florida 2012 Genetics Training Program with Avatars
U of Miami Miller School of Medicine 2013 MD/MS in Genomic Medicine
U of Iowa 2013 Personal Genomics Honors Seminar
U of Illinois, U of Texas, & Duke Univ 2013 Personal Genetics Course (undergrad)
20. Genomic Medicine Education Initiatives
University/Medical School Year Program Description
U of Rochester School of Medicine 1999 Double Helix Curriculum
16 Initiativesin Human Genetics and Genomics
U of Miami Miller School of Medicine 2005
Pathway
U of Pennsylvania School of Med 2008 Personalized Medicine Course
Johns Hopkins School of Medicine 2009 Genes to Society Curriculum
Tufts University 2009
Ohio State University
but… Scholar’s Program in Personalized Med
2010 P4
Personal Genomics Course
Stanford University 2010 Genomics and Personalized Medicine Course
Georgetown Univ School of Medicine 2010 Molecular and Human Genetics Module
141 AAMC Accredited Schools
SUNY Upstate Medical Univ
2010 Personalized Medicine Elective
Baylor College of Medicine 2011 Genetics Track Curriculum (undergrad)
New York University 2012 Practical Analysis of Your Personal Genome
Beth Israel Deaconess Medical Ctr 2012 Pathologist Genomics Training Program
U of Florida 2012 Genetics Training Program with Avatars
U of Miami Miller School of Medicine 2013 MD/MS in Genomic Medicine
U of Iowa 2013 Personal Genomics Honors Seminar
U of Illinois, U of Texas, & Duke Univ 2013 Personal Genetics Course (undergrad)
21. Exomes for Primary Care Physicians
56 Physicians / 78% Family Medicine / Median Year Graduation 1995
22. Observations
Main Points Revisited
1. Physicians, as a group, may need help with
genetics (and in some cases might not know it)
2. Patients, families & physicians, would often
choose to receive some secondary findings
3. Patients in early studies do not represent all
who may benefit – need to ensure access
23. Acknowledgements
Andrew Carson, PhD
Sarah Topol, RN, BSN Guangfa Zhang, PhD
Burcu Darst Philip Pham
Sharon Haaser, RN Erick Scott, MD
Ali Torkamani, PhD Philip Pham Glenn Oliveira
Nicholas Schork, PhD Bill Shipman, MS
Lauren Ariniello
Eric Topol, MD Galina Erikson, MS Janel Lee
Nikki Villarasa
IDIOM Families & Physicians Sam Levy, PhD
With Special Thanks to “IDIOM #1”
Ashley Van Zeeland, PhD
Lilly, Gay and Steve Grossman
Mike Alcorn, MBA
Jennifer Friedman, M.D.
Scripps IRB
Clinician Review Panel Members Barbara Bigby, MA, CIP
Ron Simon, MD, Brad Patay, MD, Kelly Bethel, MD, Paul Pockros, MD, Gary Williams, MD,
James Mason, MD, Christy Jackson, MD, Michael Kayser, MD, Raj Belani, MD, Joel Diamant,
MD, Nelson Hwynn, MD, Erick Scott, MD
Funders
NIH/NCRR flagship CTSA grant (Eric Topol, MD)
Scripps Genomic Medicine Division of Scripps Health
Schaeffer Family Foundation / Warren Foundation / Zarrow Foundation
Reproduced with permission
