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Precision Medicine for Your PracticeCarrier Screening

Learning Objectives
1. Determine which carrier screening option is the best fit for the patient.
2. Interpret results of carrier screening in the context of the patient characteristics
0.5 Credit CME

Given the spectrum of carrier screening panels now available, it is important to recognize the benefits and limitations of different types of tests. Although screening can now be done faster, cheaper, and with broader scope, the expanded option is not right for everyone. The results of large carrier screening panels 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 options 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.

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Clinical Education from The Jackson Laboratory

Clinical Education from The Jackson Laboratory empowers physicians and healthcare professionals to integrate genomics into their clinical practice. Learn more

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Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:

0.5 Medical Knowledge MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program;

0.5 Self-Assessment points in the American Board of Otolaryngology – Head and Neck Surgery’s (ABOHNS) Continuing Certification program;

0.5 MOC points in the American Board of Pediatrics’ (ABP) Maintenance of Certification (MOC) program; and

0.5 Lifelong Learning points in the American Board of Pathology’s (ABPath) Continuing Certification program;

It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting MOC credit.

Activity Information

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 0.50 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Disclosure Statement: Unless noted, all individuals in control of content reported no conflicts of interest.

If applicable, all relevant financial relationships have been mitigated.

Credit Renewal Date: June 16, 2022

Content Contributors

• 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

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.

References:
1.
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.Google Scholar
2.
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.Google Scholar
3.
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.Google Scholar
4.
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.Google Scholar
5.
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.Google Scholar
6.
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.Google Scholar
7.
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.Google Scholar
8.
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.Google Scholar
9.
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 .Google Scholar
10.
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 .Google Scholar
11.
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.Google Scholar
12.
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.Google Scholar
13.
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.Google Scholar
14.
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.Google Scholar
15.
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.Google Scholar
16.
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.Google Scholar
17.
Nurse Practitioners in Women's Health.  Position Statement: Prepregnancy Genetic Carrier Screening.  Accessed 2022/01/18.
18.
Nussbaum  RL, Slotnick  RN, Risch  NJ.  Challenges in Providing Residual Risks in Carrier Testing.  Prenat Diagn. 2021 Aug;41(9):1049–1056.Google Scholar
19.
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.Google Scholar
20.
Silver  J, Norton  ME.  Expanded Carrier Screening and the Complexity of Implementation.  Obstet Gynecol. 2021 Feb 1 ;137(2):345–350.Google Scholar
21.
Sparks  TN.  Expanded Carrier Screening: Counseling and Considerations.  Hum Genet. 2020 Sep;139(9):1131–1139.Google Scholar
22.
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.Google Scholar
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