Expanded Carrier Screening

Reproductive genetic carrier screening: beyond family history and ethnicity

Updated March 2017

Point of Care tool #1: Tips to for providers BEFORE ordering expanded carrier screening.

Point of Care tool #2: Tips to for providers AFTER ordering expanded carrier screening


NOTE: For a case-based education module check out the updated (June 2017) module here.

The intent of reproductive genetic carrier screening is to facilitate informed decision-making by future parents through identifying those couples at increased risk of having an affected child with a serious genetic disorder (autosomal or X-linked recessive)1-3.  The ideal timing for discussing carrier screening is when prospective parents are considering pregnancy (preconception) or at a woman’s first prenatal visit, regardless of gestational age.4

ECS - Reproductive options - Fig 1- Mar 2017

Current Canadian and international practice guidelines support offering carrier screening based on an individual’s ethnic background and when certain personal and/or family history red flags are identified1,4,5.  For Point of Care tools on Canadian recommendations for reproductive genetic screening, click the box below.

ECS - SOGC Link - Fig 2- Mar 2017

Expanded carrier screening refers to reproductive genetic carrier screening beyond one’s ethnicity and family history.  Expanded carrier screening panels generally use next-generation sequencing to read through many (100+) genes at one time.  Several professional societies have published recommendations for responsible implementation of expanded carrier screening into clinical practice1,4,5.   A recent opinion update by the Society of Obstetricians and Gynaecologists of Canada and the Canadian College of Medical Geneticists on reproductive genetic carrier screening states that “the option of this technology should be part of the informed consent process”.4 Ordering providers are also cautioned that access to formal genetic counselling for their patients following ESC panel results may be limited4.  Currently, expanded carrier screening panels are not funded through provincial health care.  Interested individuals can pay out of pocket for this testing if a physician is willing to arrange testing.

We have developed two point of care tools to help providers who chose to arrange expanded carrier screening for their patients. One tool includes tips to consider before ordering expanded carrier screening  testing and one tool contains tips to consider once expanded carrier screening results are reported.

Because offering expanded carrier screening panels is an evolving choice in clinical practice, if you have additional tips or advice for your fellow Canadian health care providers, please Contact Us.


[1] Henneman L, Borry P, Chokoshvili D, et al. Responsible implementation of expanded carrier screening. Eur J Hum Genet 2016; 24(6):e1-e12.

[2] Plantinga M, Birnie E, Abbott KM, et al. Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases. Eur J Hum Genet 2016; 24(10):1417-23

[3] Yao R, Goetzinger KR. Genetic Carrier Screening in the Twenty-first Century. Clin Lab Med 2016; 36(2):277-88.

[4] Wilson RD, De Bie I, Armour CM, et al.  Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing. J Obstet Gynaecol Can 2016; 38(8):742-762

[5] 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 Quality Foundation, and Society for Maternal-Fetal Medicine. Obstet Gynecol 2015;125(3):653-62.

GEC-KO aims to aid the practicing non-genetics health professional by providing informed opinions regarding genetic/genomic conditions, services and technologies that have been developed in a rigorous and evidence-based manner with periodic updating.  The content on the GEC-KO site is for educational purposes only.  No resource should be used as a substitute for clinical judgement.  GEC-KO assumes no responsibility or liability resulting from the use of information contained herein.

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