What Data to Give Back & HowLearning from Idiopathic Disease Sequencing                Case Studies           Cinnamon S. ...
Main Points of Interest1. Who are the patients (and physicians)?  Unique, not representative of all who may benefit.2. Wha...
Idiopathic Diseases of huMan Sequencing for Diagnosis & Treatment of Idiopathic DiseasesStudy Criteria:1. Condition seriou...
IDIOM Procedures      Fall 20117th Patient Enrolled             ScreeningN=5 Data Available                       Clinicia...
IDIOM Scientist-Clinician Review Panel                         Quarterly Evening MeetingsNeurology, Rheumatology, Internal...
Psychosocial / Ethics           Domain                       Instrument                                       Quality of L...
IDIOM Referrals     N = 68
Panel Review                       Ineligible    Panel Reviewed    p        N                 47            21 (31%)      ...
EnrolledCase Studies
Patients   Characteristics              Cases 1 - 5         Age                      14 - 35       Gender                 ...
Physicians    Characteristics          Cases 1 - 5   Graduation Year           1991 - 2007                               N...
Preferences for Secondary Findings                                               Physicians                       Adult   ...
How would you grade your physician?    Communication   Knowledge      A  Explanations    B  Solicits Ques   B-  Spends Tim...
Physician “Self-Grading”                                      Pre-seq Patient Grades Physician                            ...
Return of Results Discrepancy                                                                                  MotherStron...
Miscommunication = Mistakes, Misunderstandings                & Frustration
Post-Sequencing"We took several hours post-[testing to discuss results]which is not feasible in general practice.” - Physi...
BarriersCost Efficiency, Privacy Concerns / EMR, Turn-aroundTime, Few Genetic Counselors, Secondary Findings,        Retur...
Genomic Medicine Education Initiatives   University/Medical School          Year           Program Description U of Roches...
Genomic Medicine Education Initiatives   University/Medical School           Year          Program Description U of Roches...
Exomes for Primary Care Physicians56 Physicians / 78% Family Medicine / Median Year Graduation 1995
Observations                  Main Points Revisited1. Physicians, as a group, may need help with   genetics (and in some c...
Acknowledgements                                                          Andrew Carson, PhD                     Sarah Top...
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  1. 1. What Data to Give Back & HowLearning 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. 2. Main Points of Interest1. 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. 3. Idiopathic Diseases of huMan Sequencing for Diagnosis & Treatment of Idiopathic DiseasesStudy Criteria:1. Condition serious and undiagnosed2. Sequencing may be informative3. Physician Champion to return results
  4. 4. IDIOM Procedures Fall 20117th Patient Enrolled ScreeningN=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
  5. 5. IDIOM Scientist-Clinician Review Panel Quarterly Evening MeetingsNeurology, Rheumatology, Internal Medicine, Allergy/Immunology, Cardiology, Medical Oncology/Hematology, Gastroenterology, Hepatology, Psychology, Bioinformatics/Genetics, Medical/Bioethics, Nursing, IRB
  6. 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
  7. 7. IDIOM Referrals N = 68
  8. 8. Panel Review Ineligible Panel Reviewed p N 47 21 (31%) - Age (years) 47 26 <.001Physician Referral 36% 71% .04 Cardiology Allergy/Immun Top 3 Internal Med Oncology .046Medical Specialties Neurology Neurology Enrolled 10% of Referred Cases
  9. 9. EnrolledCase Studies
  10. 10. Patients Characteristics Cases 1 - 5 Age 14 - 35 Gender 80% FemaleEthnicity (self-report) 80% European Quality of Life Z-scores Physical -2.3 (severe imp) Psychological 0.6 (average) Environmental 1.8 (superior)Genetics Knowledge 0.6 (high avg) Physical vs. Environment, p=.02
  11. 11. Physicians Characteristics Cases 1 - 5 Graduation Year 1991 - 2007 Neurology Hem/Oncology Specialties Gastroenterology Allergy/Immunology 7 – 90Time Caring for Patient MonthsPersonal Innovativeness 12 (average)
  12. 12. Preferences for Secondary Findings Physicians Adult Patients Onset Parents 100% 100% 100% 100% 60% 60% Screen/None Treatment 90% 80% 80% 70% 60% 60% Childhood Onset
  13. 13. How would you grade your physician? Communication Knowledge A Explanations B Solicits Ques B- Spends Time C Repeats Info B Overall B-
  14. 14. Physician “Self-Grading” Pre-seq Patient Grades Physician Post-seq Patient Grades Physician Post-seq Physician Grades Self 60A+ 50A 40 Patient-Physician Discrepancy 30 p=.04B 20B-10 0F -10 -20 -30 Case 1 Case 2 Case 3 Case 4 Medical Communication Competence Scale
  15. 15. Return of Results Discrepancy MotherStrongly Father Agree 3 Physician Agree 2 Slightly Agree 1 Neither 0 SlightlyDisagree -1Disagree -2Strongly -3Disagree 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
  16. 16. Miscommunication = Mistakes, Misunderstandings & Frustration
  17. 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 its more relevant.” - Patient Case 2"Do not depend on [a] childs doctor to…transfer suchimportant information.” - Father Case 3• Mild to no sequencing-related distress, little to no regret• 75% physicians & 50% patients suggest added clinician
  18. 18. BarriersCost Efficiency, Privacy Concerns / EMR, Turn-aroundTime, Few Genetic Counselors, Secondary Findings, Return of Results, Physician Training
  19. 19. Genomic Medicine Education Initiatives University/Medical School Year Program Description U of Rochester School of Medicine 1999 Double Helix CurriculumU 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 CourseGeorgetown 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 AvatarsU of Miami Miller School of Medicine 2013 MD/MS in Genomic Medicine U of Iowa 2013 Personal Genomics Honors SeminarU of Illinois, U of Texas, & Duke Univ 2013 Personal Genetics Course (undergrad)
  20. 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 GenomicsU 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 CourseGeorgetown 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 AvatarsU of Miami Miller School of Medicine 2013 MD/MS in Genomic Medicine U of Iowa 2013 Personal Genomics Honors SeminarU of Illinois, U of Texas, & Duke Univ 2013 Personal Genetics Course (undergrad)
  21. 21. Exomes for Primary Care Physicians56 Physicians / 78% Family Medicine / Median Year Graduation 1995
  22. 22. Observations Main Points Revisited1. 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 findings3. Patients in early studies do not represent all who may benefit – need to ensure access
  23. 23. Acknowledgements Andrew Carson, PhD Sarah Topol, RN, BSN Guangfa Zhang, PhD Burcu Darst Philip Pham Sharon Haaser, RN Erick Scott, MDAli Torkamani, PhD Philip Pham Glenn OliveiraNicholas Schork, PhD Bill Shipman, MS Lauren ArinielloEric Topol, MD Galina Erikson, MS Janel Lee Nikki VillarasaIDIOM Families & Physicians Sam Levy, PhDWith Special Thanks to “IDIOM #1” Ashley Van Zeeland, PhDLilly, Gay and Steve Grossman Mike Alcorn, MBAJennifer Friedman, M.D. Scripps IRBClinician Review Panel Members Barbara Bigby, MA, CIPRon 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, MDFundersNIH/NCRR flagship CTSA grant (Eric Topol, MD)Scripps Genomic Medicine Division of Scripps HealthSchaeffer Family Foundation / Warren Foundation / Zarrow Foundation Reproduced with permission

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