Self-paced • 0.5 credits
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.
Precision Medicine for Your Practice: Expanded Carrier Screening
Original Publication Date: June 29, 2016
Renewal Date: September 21, 2020
Expiration Date: September 14, 2022
Upon completion of this educational activity, the learner 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.
This activity is designed to meet the educational needs of practicing advanced practice nurses, physicians and physician assistants who provide prenatal care.
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 4 out of 5 questions correctly and 4) complete the evaluation. Nurses are eligible for a maximum of .50 contact hours upon the completion of this activity.
- 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, American Medical Association
- Laura Nicholson, MD, PhD, Director of Education, Scripps Research Translational Institute
- Kate Reed, MPH, ScM, CGC, Director, Clinical and Continuing Education, The Jackson Laboratory
- Janet K. Williams, PhD, RN, FAAN, University of Iowa, Professor of Nursing, Chair of Behavioral and Social Science Research, University of Iowa
Faculty and Authors
- Kate Reed, MPH, ScM, CGC, Director, Clinical and Continuing Education, The Jackson Laboratory (Author)
- Emily Edelman, MS, CGC, Associate Director, Clinical and Continuing Education, The Jackson Laboratory (Author)
- Therese Ingram Nissen, MA, Senior Instructional Designer/Technologist, The Jackson Laboratory (Author)
- Sean C. McConnell, PhD, Senior Policy Analyst, Science, Medicine & Public Health, CME Program Committee, AMA (Author)
- Laura Nicholson, MD, PhD, Director of Education, Scripps Research Translational Institute (Author)
- Edward Kloza, MS, CGC, Genetics Consultant, Women & Infants Hospital of Rhode Island (Content Reviewer)
- Nancy C. Rose, MD, Director of Reproductive Genetics, Intermountain Medical Group (Content Reviewer)
- Blair K. Stevens, MS, CGC, Assistant Professor, Department of Obstetrics, Gynecology, and Reproductive Sciences, The University of Texas Health Science Center at Houston (Content Reviewer)
The following individuals contributed to an earlier version of this program: Barry D. Dickinson, PhD, CME Program Committee, AMA; Siobhan Dolan, MD, MPH, Professor of Clinical Obstetrics & Gynecology and Women's Health, Albert Einstein College of Medicine; Abdallah Elias, MD, Department of Medical Genetics, Shodair Children's Hospital; Katie Johansen Taber, PhD, Principal Policy Analyst, Science and Biotechnology, AMA; Jeanette McCarthy, MPH, PhD, Visiting Associate Professor, Division of Medical Genetics, UCSF School of Medicine; Nikita Mehta, MS, CGC, Genetic Counselor, Counsyl; James O'Leary, MBA, Chief Innovation Officer, Genetic Alliance; and Suzanna Schott, ScM, CGC, Medical Writer, The Jackson Laboratory.
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.
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 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.
- 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.
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.