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

Precision Medicine for Your Practice: Exome Testing for Diagnosis - CNE

Self-paced
0.5 credits

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Full course description

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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CNE Disclosures:

Activity Overview:

Precision Medicine for Your Practice: Exome Testing for Diagnosis
Release Date:
October 31, 2018
Expiration Date: 
September 21, 2020

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

  1. Identify how to communicate with patients about the benefits, risks and limitations of exome testing and expectations for an appointment with a genetic expert.
  2. Recognize how to communicate with patients about positive, negative, and uncertain results from exome testing.
  3. Recognize how to collaborate with a genetic expert throughout the exome testing process, including initial referral and ongoing patient management.
Target Audience
This activity is designed to meet the educational needs of practicing nurses and/or advanced practice nurses, physicians and physician assistants.

CNE Approval Statement
The Jackson Laboratory is co-providing this continuing nursing education activity with the American Medical Association and Scripps Translational Science Institute. This continuing nursing education activity was approved by the Northeast Multi-State Division (NE-MSD), an accredited approver by the American Nurses Credentialing Center’s Commission on Accreditation.

Claiming Your Credit
In order to claim credit 1) answer the pre-assessment questions, 2) work through the module content in its entirety, 3) successfully complete the post-assessment answering 2 out of 3 questions correctly and 4) complete the evaluation.    

Nurses are eligible for a maximum of .50 contact hours upon the completion of this activity.

Planning Committee

  • Emily Edelman, MS, CGC, The Jackson Laboratory
  • Therese Ingram, MA, The Jackson Laboratory
  • Sean McConnell, PhD, American Medical Association
  • Laura Nicholson, MD, PhD, Scripps Research Translational Institute 
  • Kate Reed, MPH, ScM, CGC, The Jackson Laboratory
  • Linda Steinmark, MS, LGC, The Jackson Laboratory
  • Janet K. Williams, PhD, RN, FAAN, University of Iowa

Faculty and Authors 

  • Emily Edelman, MS, CGC, The Jackson Laboratory
  • Therese Ingram, MA, The Jackson Laboratory
  • Sean McConnell, PhD, American Medical Association
  • Laura Nicholson, MD, PhD, Scripps Translational Science Institute
  • Kate Reed, MPH, ScM, CGC, The Jackson Laboratory
  • Linda Steinmark, MS, LGC, The Jackson Laboratory
  • Alissa Terry, ScM, CGC, The Jackson Laboratory

Conflict of Interest Disclosure
Unless otherwise noted, the program planners and faculty do not have a financial interest/arrangement or affiliation with any organizations that could be perceived as a real or apparent conflict of interest in the context of the subject of this course.

The following disclosures are reported that could be perceived as a real or apparent conflict of interest in the education program:

Janet K. Williams, PhD, RN, FAAN, stockholder of Pfizer

In her role as a planner, Dr. Williams recused herself from all deliberations relating to content related to the commercial entities with which she has a financial interest and is not responsible for reviewing for bias any related content. All educational material has been peer-reviewed by external reviewers to assess for bias.

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

Review the basic computer specifications and supported browsers.

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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