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Precision Medicine for Your Practice: Expanded Carrier Screening-CME is a Course

Precision Medicine for Your Practice: Expanded Carrier Screening-CME

0.5 credits


Full course description

About this Course

Given the spectrum of carrier screening panels now available, it is important to recognize the benefits and limitations of different types of tests. Although testing can now be done faster, cheaper, and with broader scope, the expanded option is not right for everyone. The results of expanded carrier screening (ECS) can provide valuable information, but may also produce some surprises for patients and providers alike. Precision Medicine For Your Practice is a series of short (20-30 min), online modules covering specific topics in genomics and precision medicine. In this module, Expanded Carrier Screening, participants will learn about the benefits and limitations of expanded carrier screening (ECS) in prenatal care for the purpose of facilitating patient decision-making. This online module will include five parts: overview information via an animated video; practice cases to facilitate learning-by-doing; and "dig deeper," logistics, and additional resources for those who are interested in more detail.

Already enrolled?   Access the course directly here.

Activity Overview:

Precision Medicine For Your Practice: Expanded Carrier Screening
Release Date: June 29, 2016
Expiration Date: June 29, 2019 

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

  • Determine whether expanded carrier screening is appropriate for the patient.
  • Interpret results of carrier screening in the context of the patient characteristics.

Target Audience
This activity is designed to meet the educational needs of practicing physicians who provide prenatal care.

Statement of Need
Genetic technology is rapidly expanding, often too quickly for physicians and other health professionals to become familiar with new technologies before their patients inquire about them, and too quickly for adequate evidence regarding the clinical utility of the technologies to be produced. This educational module will assist physicians and health professionals to determine when expanded carrier screening is appropriate for their patients and how to interpret the results of such testing.

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™, 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.    

Planning Committee

  • Barry D. Dickinson, PhD, CME Program Committee, AMA
  • Abdallah Elias, MD, Department of Medical Genetics, Shodair Children's Hospital
  • Jeanette McCarthy, MPH, PhD, Visiting Associate Professor, Division of Medical Genetics, UCSF School of Medicine
  • James O'Leary, MBA, Chief Innovation Officer, Genetic Alliance
  • Janet K. Williams, PhD, RN, FAAN, Professor of Nursing, Chair of Behavioral and Social Science Research, University of Iowa


  • Barry D. Dickinson, PhD, CME Program Committee, AMA (Content Reviewer)
  • Siobhan Dolan, MD, MPH, Professor of Clinical Obstetrics & Gynecology and Women's Health, Albert Einstein College of Medicine (Content Consultant)
  • Emily Edelman, MS, CGC, Associate Director, Clinical and Continuing Education, The Jackson Laboratory (Author)
  • Abdallah Elias, MD, Department of Medical Genetics, Shodair Children's Hospital (Content Reviewer)
  • Therese Ingram Nissen, MA, Senior Instructional Designer/Technologist, The Jackson Laboratory (Author)
  • Katie Johansen Taber, PhD, Principal Policy Analyst, Science and Biotechnology, AMA (Author)
  • Nikita Mehta, MS, CGC, Genetic Counselor, former employee of Counsyl (Content Consultant)
  • James O'Leary, MBA, Chief innovation Officer, Genetic Alliance (Content Reviewer)
  • Kate Reed, MPH, ScM, CGC, Director, Clinical and Continuing Education, The Jackson Laboratory (Author)
  • Suzanna Schott, ScM, CGC, Medical Writer, The Jackson Laboratory (Author)

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:

  • Siobhan Dolan, MD, MPH, Stockholder of Sequenom
  • Jeanette McCarthy, PhD, MPH, Consultant to Big Science Media, Omicia, and Precision Medicine Advisors
  • Nikita Mehta, MS, CGC, Genetic Counselor, former employee of Counsyl, Inc.
  • Suzanna Schott, ScM, CGC, Stockholder of Merck, Amgen, and Teva
  • Janet K. Williams, PhD, RN, FAAN, Stockholder of Pfizer

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


American College of Obstetricians and Gynecologists. Update on Carrier Screening for Cystic Fibrosis. Obstet Gynecol. 2011;117(4):1028-1031.

American College of Obstetricians and Gynecologists. Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. ACOG Committee Opinion No. 442. Obstet Gynecol. 2009;114:950-953.

American College of Obstetricians and Gynecologists Committee on Genetics. ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. Obstet Gynecol. 2011;117(486):1028-1031.

Azimi M, Schmaus K, Greger V, Neitzel D, Rochelle R, Dinh T. Carrier screening by next-generation sequencing: health benefits and cost effectiveness. Mol Genet Genomic Med. 2016:1-11.

Cho D, McGowan ML, Metcalfe J, Sharp RR. Expanded carrier screening in reproductive healthcare: Perspectives from genetics professionals. Hum Reprod. 2013;28(6):1725-1730.

Darcy D, Tian L, Taylor J, Schrijver I. Cystic fibrosis carrier screening in obstetric clinical practice: knowledge, practices, and barriers, a decade after publication of screening guidelines. Genet Test Mol Biomarkers. 2011;15(7-8):517-523.

Edwards JG, Feldman G, Goldberg J, et al. Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Qual. Obstet Gynecol. 2015;125(3):653-662.

Ferreira JCP, Schreiber-Agus N, Carter SM, Klugman S, Gregg AR, Gross SJ. Carrier testing for Ashkenazi Jewish disorders in the prenatal setting: navigating the genetic maze. Am J Obstet Gynecol. 2014;211(3):197-204.

Fonda Allen J, Stoll K, Bernhardt B a. Pre-and post-test genetic counseling for chromosomal and Mendelian disorders. Semin Perinatol. 2016;40(1):44-55.

Grinzaid KA, Page PZ, Denton JJ, Ginsberg J. Creation of a National, At-home Model for Ashkenazi Jewish Carrier Screening. J Genet Couns. 2014;24(3):381-387.

Grody WW, Thompson BH, Gregg AR, et al. ACMG position statement on prenatal/preconception expanded carrier screening. Am Coll Med Genet. 2013;15(6):482-483.

Hoffman JD, Park JJ, Schreiber-Agus N, et al. The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities. Prenat Diagn. 2014;34:1161-1167.  

Langlois S, Benn P, Wilkins-Haug L. Current controversies in prenatal diagnosis 4: pre-conception expanded carrier screening should replace all current prenatal screening for specific single gene disorders. Prenat Diagn. 2015;35(1):23-28.  

Lazarin GA, Goldberg JD. Current controversies in traditional and expanded carrier screening. Curr Opin Obstet Gynecol. 2016;28(2):136-141.

Lazarin G a, Haque IS, Nazareth S, et al. An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. Genet Med. 2013;15(3):178-186.

Lazarin G a, Haque IS, Way K, Francisco SS. Expanded carrier screening: A review of early implementation and literature. Semin Perinatol. 2015:1-6.

Lazarin G a., Detweiler S, Nazareth SB, Ashkinadze E. Genetic Counselors' Perspectives and Practices Regarding Expanded Carrier Screening after Initial Clinical Availability. J Genet Couns. 2016;25(2):395-404.

Muralidharan K, Wilson RB, Ogino S, Nagan N, Curtis C, Schrijver I. Population carrier screening for spinal muscular atrophy: A position statement of the association for molecular pathology. J Mol Diagnostics. 2011;13(1):3-6.

Nazareth SB, Lazarin G a., Goldberg JD. Changing trends in carrier screening for genetic disease in the United States. Prenat Diagn. 2015;35(10):931-935.

Rose NC. Expanded carrier screening: too much of a good thing? Prenat Diagn. 2015;35(10):936-937.

Hardware/software Requirements
Audio speakers or headphones
Screen resolution of 800X600 or higher
Adobe Reader 5.0 or higher 

As of June 4, 2016, we support the following versions of Flash and popular web browsers:

  • Internet Explorer 11 and Edge
  • Chrome 50 and 51
  • Safari 8 and 9
  • Firefox 45 and 46 (Extended Releases are not supported)
  • Flash 20 and 21 (used for recording or viewing audio/video and uploading files)
  • Respondus Lockdown Browser (supporting the latest system requirements)

Operating Systems

  • Windows 7 and newer
  • Mac OSX 10.6 and newer
  • Linux - chromeOS

Mobile Operating System Native App Support

  • iOS 7 and newer
  • Android 4.2 and newer

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.

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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