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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 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.

CME Disclosures

Activity Overview:

Precision Medicine For Your Practice: Expanded Carrier Screening - CME
Original Publication Date: June 29, 2016
Renewal Date: June 20, 2019
Expiration Date: June 19, 2022

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.

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 4 out of 5 questions correctly and 4) complete the evaluation. 

Multimedia Contributors

  • Kate Reed, MPH, ScM, CGC, Director, Clinical and Continuing Education, The Jackson Laboratory
  • Emily Edelman, MS, CGC, Associate Director, Clinical and Continuing Education, The Jackson Laboratory
  • Therese Ingram Nissen, MA, Senior Instructional Designer/Technologist, The Jackson Laboratory 
  • Sean C. McConnell, PhD, Senior Policy Analyst, Science, Medicine & Public Health, CME Program Committee, AMA
  • Laura Nicholson, MD, PhD, Director of Education, Scripps Research Translational Institute

Disclosure Statement

Unless noted, no individuals in control of content reported a conflict of interest.


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.

American College of Obstetricians and Gynecologists Committee on Genetics. ACOG Committee Opinion No. 690: Carrier Screening in the Age of Genomic Medicine. Obstet Gynecol. 2017;129(3):e35-40.

American College of Obstetricians and Gynecologists Committee on Genetics. ACOG Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet Gynecol. 2017;129(3):e41-55.

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 professionalsHum 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 disordersSemin 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 

For best performance in a mobile environment, please download the Canvas Mobile App for IOS and Android.

Check the basic computer specifications and supported browsers.

Should you have technical questions or questions regarding the content of the activity, please email Clinical and Continuing Education at the Jackson Laboratory.

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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