Carrier Screening (CNE)

Carrier Screening (CNE)

Learn about the benefits and limitations of carrier screening in prenatal care.

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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 carrier screening 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, Carrier Screening, participants will learn about the benefits and limitations of carrier screening 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.

To claim credit, follow the steps in the learning path.

CNE Disclosures

Activity Overview
Precision Medicine for Your Practice: Carrier Screening (CNE)

Original Publication Date: June 29, 2016
Renewal Date: September 14, 2022
Expiration Date: September 14, 2024

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

  • Recognize the benefits and limitations of different types of carrier testing for the purpose of supporting shared decision-making.

Target Audience
This activity is designed to meet the educational needs of practicing nurses, 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 Health. This nursing continuing professional development activity was approved by the Northeast Multistate Division Education Unit, 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.

Planning Committee

  • Emily Edelman, MS, CGC, Director, Clinical Education, The Jackson Laboratory
  • Therese Ingram, MA, Associate Director and Senior Instructional Designer/Technologist, Clinical Education, The Jackson Laboratory
  • Laura Nicholson, MD, PhD, Director of Research, Graduate Medical Education (GME), Scripps Health
  • Kate Reed, MPH, ScM, CGC, Director, Precision Oncology Education, Clinical Education, The Jackson Laboratory
  • Linda Steinmark, MS, CGC, Project Manager, Clinical Education, The Jackson Laboratory
  • Janet K. Williams, PhD, RN, FAAN, Professor of Nursing, Chair of Behavioral and Social Science Research, University of Iowa

Faculty and Authors

  • Emily Edelman, MS, CGC, Director, Clinical Education, The Jackson Laboratory (Author)
  • Therese Ingram, MA, Associate Director and Senior Instructional Designer/Technologist, Clinical Education, The Jackson Laboratory (Author)
  • Linda Steinmark, MS, CGC, Project Manager, Clinical Education, The Jackson Laboratory (Author)

Subject Matter Experts

  • Nancy C. Rose, MD (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)

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. All educational material has been peer-reviewed by external reviewers to assess for bias.

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. 

In 2020 Ms. Edelman received salary support through a proposal selected by the American Community Cancer Centers and Pfizer for an education project. In her roles as a planner and author, Ms. Edelman recused herself from all deliberations relating to content related to the commercial entity with which she has financial interest and was not responsible for reviewing for bias any related content. 

References

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. 

Arjunan A, Bellerose H, Torres R, Ben-Shachar R, Hoffman JD, Angle B, Slotnick RN, Simpson BN, Lewis AM, Magoulas PL, Bontempo K, Schulze J, Tarpinian J, Bucher JA, Dineen R, Goetsch A, Lazarin GA, Johansen Taber K. Evaluation and Classification of Severity for 176 Genes on an Expanded Carrier Screening Panel. Prenat Diagn. 2020 Sep;40(10):1246-1257.  

Arjunan A, Torres R, Gardiner A, Kaseniit KE, Wootton J, Ben-Shachar R, Johansen Taber K. Evaluating the Efficacy of Three Carrier Screening Workflows Designed to Identify At-Risk Carrier Couples. Prenat Diagn. 2021 Jun;41(7):896-904.  

Arjunan A, Darnes DR, Sagaser KG, Svenson AB. Addressing Reproductive Healthcare Disparities through Equitable Carrier Screening: Medical Racism and Genetic Discrimination in United States' History Highlights the Needs for Change in Obstetrical Genetics Care. Societies. 2022; 12(2):33. 

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. 

Balzotti M, Meng L, Muzzey D, Johansen Taber K, Beauchamp K, Curation Team MG, Curation Team BG, Mar-Heyming R, Buckley B, Moyer K. Clinical Validity of Expanded Carrier Screening: Evaluating the Gene-Disease Relationship in More Than 200 Conditions. Hum Mutat. 2020 Aug;41(8):1365-1371.  

Betting, W. Factors that Impact Uptake of Carrier Screening by Male Reproductive Partners of Female Prenatal Patients. The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Dissertations and Theses. 2020 (Open Access). 999. 

Brown EM, Grinzaid KA, Ali N, Mehta N, Hardy MW. Evaluating the Experiences of Individuals with Personal Health Risks Identified Through Expanded Carrier Screening. J Genet Couns. 2021 Oct 25.  

Clarke JL. Impact of Pan-Ethnic Expanded Carrier Screening in Improving Population Health Outcomes: Proceedings from a Multi-Stakeholder Virtual Roundtable Summit, June 25, 2020. Popul Health Manag. 2021 Oct;24(5):622-630. Epub 2021 Jun 17. 

Dolitsky S, Mitra A, Khan S, Ashkinadze E, Sauer MV. Beyond the "Jewish Panel": the Importance of Offering Expanded Carrier Screening to the Ashkenazi Jewish Population. F S Rep. 2020 Aug 7;1(3):294-298. 

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. 

Giles Choates M, Stevens BK, Wagner C, Murphy L, Singletary CN, Wittman AT. It Takes Two: Uptake of Carrier Screening Among Male Reproductive Partners. Prenat Diagn. 2020 Feb;40(3):311-316.  

Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, Chen E, Sparks TN, Reddi HV, Rajkovic A, Dungan JS. ACMG Professional Practice and Guidelines Committee. Screening for Autosomal Recessive and X-Linked Conditions During Pregnancy and Preconception: a Practice Resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Oct;23(10):1793-1806.  

Kaseniit KE, Haque IS, Goldberg JD, Shulman LP, Muzzey D. Genetic Ancestry Analysis on >93,000 Individuals Undergoing Expanded Carrier Screening Reveals Limitations of Ethnicity-Based Medical Guidelines. Genet Med. 2020 Oct;22(10):1694-1702. 

Kraft SA, Duenas D, Wilfond BS, Goddard KAB. The Evolving Landscape of Expanded Carrier Screening: Challenges and Opportunities. Genet Med. 2019 Apr;21(4):790-797. 

Nurse Practitioners in Women's Health. Position Statement: Prepregnancy Genetic Carrier Screening. Accessed 2022/01/18. 

Nussbaum RL, Slotnick RN, Risch NJ. Challenges in Providing Residual Risks in Carrier Testing. Prenat Diagn. 2021 Aug;41(9):1049-1056.  

Propst L, Connor G, Hinton M, Poorvu T, Dungan J. Pregnant Women's Perspectives on Expanded Carrier Screening. J Genet Couns. 2018 Sep;27(5):1148-1156.  

Silver J, Norton ME. Expanded Carrier Screening and the Complexity of Implementation. Obstet Gynecol. 2021 Feb 1;137(2):345-350. 

Sparks TN. Expanded Carrier Screening: Counseling and Considerations. Hum Genet. 2020 Sep;139(9):1131-1139. 

Westemeyer M, Saucier J, Wallace J, Prins SA, Shetty A, Malhotra M, Demko ZP, Eng CM, Weckstein L, Boostanfar R, Rabinowitz M, Benn P, Keen-Kim D, Billings P. Clinical Experience with Carrier Screening in a General Population: Support for a Comprehensive Pan-Ethnic Approach. Genet Med. 2020 Aug;22(8):1320-1328.   

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

Check the 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.

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.

Learning Path

  • Pre-assessment
  • Pre-course assessment
  • Review Course Materials
  • Carrier Screening
  • Post Quiz & Evaluation
  • Post-course assessment
  • Evaluation
  • Accessing your certificate
  • Resources
  • Tools & resources
  • More education
  • For patients

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 carrier screening 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, Carrier Screening, participants will learn about the benefits and limitations of carrier screening 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.

To claim credit, follow the steps in the learning path.

CNE Disclosures

Activity Overview
Precision Medicine for Your Practice: Carrier Screening (CNE)

Original Publication Date: June 29, 2016
Renewal Date: September 14, 2022
Expiration Date: September 14, 2024

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

  • Recognize the benefits and limitations of different types of carrier testing for the purpose of supporting shared decision-making.

Target Audience
This activity is designed to meet the educational needs of practicing nurses, 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 Health. This nursing continuing professional development activity was approved by the Northeast Multistate Division Education Unit, 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.

Planning Committee

  • Emily Edelman, MS, CGC, Director, Clinical Education, The Jackson Laboratory
  • Therese Ingram, MA, Associate Director and Senior Instructional Designer/Technologist, Clinical Education, The Jackson Laboratory
  • Laura Nicholson, MD, PhD, Director of Research, Graduate Medical Education (GME), Scripps Health
  • Kate Reed, MPH, ScM, CGC, Director, Precision Oncology Education, Clinical Education, The Jackson Laboratory
  • Linda Steinmark, MS, CGC, Project Manager, Clinical Education, The Jackson Laboratory
  • Janet K. Williams, PhD, RN, FAAN, Professor of Nursing, Chair of Behavioral and Social Science Research, University of Iowa

Faculty and Authors

  • Emily Edelman, MS, CGC, Director, Clinical Education, The Jackson Laboratory (Author)
  • Therese Ingram, MA, Associate Director and Senior Instructional Designer/Technologist, Clinical Education, The Jackson Laboratory (Author)
  • Linda Steinmark, MS, CGC, Project Manager, Clinical Education, The Jackson Laboratory (Author)

Subject Matter Experts

  • Nancy C. Rose, MD (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)

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. All educational material has been peer-reviewed by external reviewers to assess for bias.

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. 

In 2020 Ms. Edelman received salary support through a proposal selected by the American Community Cancer Centers and Pfizer for an education project. In her roles as a planner and author, Ms. Edelman recused herself from all deliberations relating to content related to the commercial entity with which she has financial interest and was not responsible for reviewing for bias any related content. 

References

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. 

Arjunan A, Bellerose H, Torres R, Ben-Shachar R, Hoffman JD, Angle B, Slotnick RN, Simpson BN, Lewis AM, Magoulas PL, Bontempo K, Schulze J, Tarpinian J, Bucher JA, Dineen R, Goetsch A, Lazarin GA, Johansen Taber K. Evaluation and Classification of Severity for 176 Genes on an Expanded Carrier Screening Panel. Prenat Diagn. 2020 Sep;40(10):1246-1257.  

Arjunan A, Torres R, Gardiner A, Kaseniit KE, Wootton J, Ben-Shachar R, Johansen Taber K. Evaluating the Efficacy of Three Carrier Screening Workflows Designed to Identify At-Risk Carrier Couples. Prenat Diagn. 2021 Jun;41(7):896-904.  

Arjunan A, Darnes DR, Sagaser KG, Svenson AB. Addressing Reproductive Healthcare Disparities through Equitable Carrier Screening: Medical Racism and Genetic Discrimination in United States' History Highlights the Needs for Change in Obstetrical Genetics Care. Societies. 2022; 12(2):33. 

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. 

Balzotti M, Meng L, Muzzey D, Johansen Taber K, Beauchamp K, Curation Team MG, Curation Team BG, Mar-Heyming R, Buckley B, Moyer K. Clinical Validity of Expanded Carrier Screening: Evaluating the Gene-Disease Relationship in More Than 200 Conditions. Hum Mutat. 2020 Aug;41(8):1365-1371.  

Betting, W. Factors that Impact Uptake of Carrier Screening by Male Reproductive Partners of Female Prenatal Patients. The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Dissertations and Theses. 2020 (Open Access). 999. 

Brown EM, Grinzaid KA, Ali N, Mehta N, Hardy MW. Evaluating the Experiences of Individuals with Personal Health Risks Identified Through Expanded Carrier Screening. J Genet Couns. 2021 Oct 25.  

Clarke JL. Impact of Pan-Ethnic Expanded Carrier Screening in Improving Population Health Outcomes: Proceedings from a Multi-Stakeholder Virtual Roundtable Summit, June 25, 2020. Popul Health Manag. 2021 Oct;24(5):622-630. Epub 2021 Jun 17. 

Dolitsky S, Mitra A, Khan S, Ashkinadze E, Sauer MV. Beyond the "Jewish Panel": the Importance of Offering Expanded Carrier Screening to the Ashkenazi Jewish Population. F S Rep. 2020 Aug 7;1(3):294-298. 

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. 

Giles Choates M, Stevens BK, Wagner C, Murphy L, Singletary CN, Wittman AT. It Takes Two: Uptake of Carrier Screening Among Male Reproductive Partners. Prenat Diagn. 2020 Feb;40(3):311-316.  

Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, Chen E, Sparks TN, Reddi HV, Rajkovic A, Dungan JS. ACMG Professional Practice and Guidelines Committee. Screening for Autosomal Recessive and X-Linked Conditions During Pregnancy and Preconception: a Practice Resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Oct;23(10):1793-1806.  

Kaseniit KE, Haque IS, Goldberg JD, Shulman LP, Muzzey D. Genetic Ancestry Analysis on >93,000 Individuals Undergoing Expanded Carrier Screening Reveals Limitations of Ethnicity-Based Medical Guidelines. Genet Med. 2020 Oct;22(10):1694-1702. 

Kraft SA, Duenas D, Wilfond BS, Goddard KAB. The Evolving Landscape of Expanded Carrier Screening: Challenges and Opportunities. Genet Med. 2019 Apr;21(4):790-797. 

Nurse Practitioners in Women's Health. Position Statement: Prepregnancy Genetic Carrier Screening. Accessed 2022/01/18. 

Nussbaum RL, Slotnick RN, Risch NJ. Challenges in Providing Residual Risks in Carrier Testing. Prenat Diagn. 2021 Aug;41(9):1049-1056.  

Propst L, Connor G, Hinton M, Poorvu T, Dungan J. Pregnant Women's Perspectives on Expanded Carrier Screening. J Genet Couns. 2018 Sep;27(5):1148-1156.  

Silver J, Norton ME. Expanded Carrier Screening and the Complexity of Implementation. Obstet Gynecol. 2021 Feb 1;137(2):345-350. 

Sparks TN. Expanded Carrier Screening: Counseling and Considerations. Hum Genet. 2020 Sep;139(9):1131-1139. 

Westemeyer M, Saucier J, Wallace J, Prins SA, Shetty A, Malhotra M, Demko ZP, Eng CM, Weckstein L, Boostanfar R, Rabinowitz M, Benn P, Keen-Kim D, Billings P. Clinical Experience with Carrier Screening in a General Population: Support for a Comprehensive Pan-Ethnic Approach. Genet Med. 2020 Aug;22(8):1320-1328.   

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

Check the 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.

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.

Learning Path

  • Pre-assessment
  • Pre-course assessment
  • Review Course Materials
  • Carrier Screening
  • Post Quiz & Evaluation
  • Post-course assessment
  • Evaluation
  • Accessing your certificate
  • Resources
  • Tools & resources
  • More education
  • For patients