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Precision Medicine for Your Practice: Exome Testing for Diagnosis is a Course

Precision Medicine for Your Practice: Exome Testing for Diagnosis

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0.5 credits

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About this Course

Precision Medicine for Your Practice is a series of short (30 min), online modules covering specific topics in genomics and precision medicine. In this module, Exome Testing for Diagnosis, learn how to collaborate with both patients and genetic specialists around exome testing. This module will help primary care providers and other specialists identify patients who may benefit from exome testing, talk with such patients and families about exome testing to support them in their decisions about genetic counseling and genetic testing, recognize clinically significant exome test results for use in patient care, and collaborate with genetic experts in ongoing patient management and evaluation. There are five parts of the module: overview via an animated video; practice cases to facilitate learning-by-doing; "dig deeper" for more in-depth topics; and logistics and additional resources for more detail.

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Activity Overview

Release Date: October 31, 2018 
Expiration Date: October 30, 2021

Objectives
Upon completion of this educational activity, the learner will be able to:

  • Identify how to communicate with patients about the benefits, risks and limitations of exome testing and expectations for an appointment with a genetic expert.
  • Recognize how to communicate with patients about positive, negative, and uncertain results from exome testing.
  • Recognize how to collaborate with a genetic expert throughout the exome testing process, including initial referral and ongoing patient management.

Statement of Need
Genetic technology is rapidly expanding, often too quickly for physicians and other health professionals to become familiar with new technologies and new genomic information before their patients inquire about genomic testing. This educational module will assist physicians and health professionals to communicate with patients about the benefits, risks, and limitations of exome testing for diagnosis.  

Statement of Competency
This activity is designed to address the following ABMS/ACGME competencies: patient care, medical knowledge, and interpersonal and communication skills.

Accreditation Statement|
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

Credit Designation Statement

The American Medical Association designates this enduring material for a maximum of .50 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Claiming Your CME Credit

In order to claim AMA PRA Category 1 Credit™, you must: 1) answer the pre-assessment questions, 2) work through the module in its entirety, 3) successfully complete the post-assessment by answering 2 out of 3 questions correctly and 4) complete the evaluation.

Planning Committee

  • Barry D. Dickinson, PhD, CME Program Committee, AMA
  • Amy Cadwallader, PhD, CME Program Committee, AMA
  • Emily Edelman, MS, CGC, The Jackson Laboratory
  • Abdallah Elias, MD, Department of Medical Genetics, Shodair Children's Hospital
  • Therese Ingram, MA, The Jackson Laboratory
  • Jeanette McCarthy, MPH, PhD, Visiting Associate Professor, Division of Medical Genetics, UCSF School of Medicine
  • Sean C. McConnell, PhD, American Medical Association
  • Laura Nicholson, MD, Co-Director of Education, Scripps Research Translational Institute
  • James O'Leary, MBA, Chief Innovation Officer, Genetic Alliance
  • Kate Reed, MPH, ScM, CGC, The Jackson Laboratory
  • Linda Steinmark, MS, LGC, The Jackson Laboratory
  • Alissa Terry, ScM, CGC, The Jackson Laboratory
  • Janet K. Williams, PhD, RN, FAAN, Professor of Nursing, Chair of Behavioral and Social Science Research, University of Iowa

Faculty

  • Barry D. Dickinson, PhD, CME Program Committee, AMA (Content Reviewer)
  • Emily Edelman, MS, CGC, Associate Director, Clinical and Continuing Education, The Jackson Laboratory (Author)
  • Sean C. McConnell, PhD, Senior Policy Analyst- Genomics, AMA (Author)
  • Therese Ingram Nissen, MA, Senior Instructional Designer/Technologist, The Jackson Laboratory (Author)
  • Laura Nicholson, MD, PhD, Co-Director of Education, Scripps Research Translational Institute (Author)
  • Bradley Patay, MD, Scripps Clinic Medical Group (Content Consultant)
  • Kate Reed, MPH, ScM, CGC, Director, Clinical and Continuing Education, The Jackson Laboratory (Author)
  • Linda Steinmark, MS, LGC, Program Manager, Clinical and Continuing Education, The Jackson Laboratory (Author)
  • Alissa Terry, ScM, CGC, The Jackson Laboratory (Author)
  • Sarah Topol, RN, Clinical Trials Coordinator, Scripps Research Translational Institute (Content Consultant)
  • Janet K. Williams, PhD, RN, FAAN, Professor of Nursing, Chair of Behavioral and Social Science Research, University of Iowa (Content Reviewer)

Disclosure Statement
In order to assure the highest quality of certified CME programming, and to comply with the ACCME Standards for Commercial Support, the AMA requires that all faculty, planners and members of the AMA CME Program Committee disclose relevant financial relationships with any commercial or proprietary entity producing health care goods or services relevant to the content being planned or presented. The following disclosures are provided:

  • Jeanette McCarthy, PhD, MPH, Consultant to Big Science Media, Omicia, and Precision Medicine Advisors
  • Janet K. Williams, PhD, RN, FAAN, Stockholder of Pfizer
  • Bradley Patay, MD, Employee of Invivoscribe

No other planners or faculty have relevant financial relationships to disclose.

References

Alfares A, Aloraini T, Subaie LA, et al. Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing Genet Med. 2018.

Amendola LM, Lautenbach D, Scollon S, et al. Illustrative case studies in the return of exome and genome sequencing results Personalized Medicine. 2015; 12(3):283-295.

American College of Genetics and Genomics Board of Directors. (2012). Points to consider in the clinical application of genomic sequencing. Genetics in Medicine, 14(8), 759–761. 

American College of Genetics and Genomics Board of Directors. (2013). Points to consider for informed consent for genome/exome sequencing. Genetics in Medicine, 15(9), 748–749. 

American College of Genetics and Genomics Board of Directors. (2015b). Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genetics in Medicine, 17(6), 505–507. 

American College of Obstetricians and Gynecologists. Microarrays and next-generation sequencing technology: the use of advanced genetic diagnostic tools in obstetrics and gynecology. Committee Opinion No. 682. Obstet Gynecol 2016;128:e262–8.

Biesecker LG, Green RC. Diagnostic Clinical Genome and Exome Sequencing N Engl J Med. 2014; 370(25):2418-2425.

Bloss CS, Zeeland AAS, Topol SE, et al. A genome sequencing program for novel undiagnosed diseases Genet Med. 2015; 17(12):995-1001.

Bowdin S, Gilbert A, Bedoukian E, et al. Recommendations for the integration of genomics into clinical practice Genet Med. 2016; 18(11):1075-1084.

Boycott, K., Hartley, T., Adam, S., Bernier, F., Chong, K., Fernandez, B. A., … Canadian College of Medical Geneticists. (2015). The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists. Journal of Medical Genetics, 52(7), 431–437. 

Bush LW, Beck AE, Biesecker LG, et al. Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG) Genet Med. 2018; 20(2):169-171.

Delaney SK, Hultner ML, Jacob HJ, et al. Toward clinical genomics in everyday medicine: perspectives and recommendations Expert Review of Molecular Diagnostics. 2016; 16(5):521-532.

Kalia, S. S., Adelman, K., Bale, S. J., Chung, W. K., Eng, C., Evans, J. P., … Miller, D. T. (2017). Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genetics in Medicine, 19(2), 249–255. 

Nolan D, Carlson M. Whole Exome Sequencing in Pediatric Neurology Patients J Child Neurol. 2016; 31(7):887-894.

Pena LDM, Jiang Y, Schoch K, et al. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases Genet Med. 2018; 20(4):464-469.

Posey JE, Rosenfeld JA, James RA, et al. Molecular diagnostic experience of whole-exome sequencing in adult patients Genet Med. 2016; 18(7):678-685.

Retterer K, Juusola J, Cho MT, et al. Clinical application of whole-exome sequencing across clinical indications Genet Med. 2015; 18(7):696-704.

Sawyer S, Hartley T, Dyment D, et al. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care Clin Genet. 2016; 89(3):275-284.

Stark Z, Tan TY, Chong B, et al. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders Genet Med. 2016; 18(11):1090-1096.

Walser SA, Werner-Lin A, Mueller R, Miller VA, Biswas S, Bernhardt BA. How do providers discuss the results of pediatric exome sequencing with families? Personalized Medicine. 2017; 14(5):409-422.

Wenger AM, Guturu H, Bernstein JA, Bejerano G. Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers Genet Med. 2016; 19(2):209-214.

Williams, E, Retterer, K, Cho, M, Richard, G, Juusola, J. Diagnostic yield from reanalysis of whole exome sequencing data. ACMG 2016 poster presentation.

Wynn J, Ottman R, Duong J, et al. Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact Clin Genet. 2018; 93(5):1039-1048.

Yang Y, Muzny DM, Xia F, et al. Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing JAMA. 2014; 312(18):1870-. 

Hardware/software Requirements

Audio speakers or headphones
Screen resolution of 800X600 or higher
Adobe Reader 5.0 or higher 


Should you have questions regarding the content of the activity, please email Kate Reed or call 207.288.6971.

Should you have technical questions, please email Therese Ingram.

Disclaimer 
All information in Precision Medicine for Your Practice is provided for educational purposes only. This information is not a substitute for clinical guidance or the consultation of a medical professional. Always seek the advice of a qualified health professional with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read in Precision Medicine for Your Practice. Reliance on any information in Precision Medicine for Your Practice is solely at your own risk. The Jackson Laboratory does not endorse or recommend any specific procedures, tests, products, services, health professionals or other information that may be found in Precision Medicine for Your Practice.


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