Committee Opinion No. 690 Summary: Carrier Screening in the Age of Genomic Medicine.

  title={Committee Opinion No. 690 Summary: Carrier Screening in the Age of Genomic Medicine.},
  journal={Obstetrics and gynecology},
  volume={129 3},
  • Published 2017
  • Medicine
  • Obstetrics and gynecology
Carrier screening, whether targeted or expanded, allows individuals to consider their range of reproductive options. Ultimately, the goal of genetic screening is to provide individuals with meaningful information that they can use to guide pregnancy planning based on their personal values. Ethnic-specific, panethnic, and expanded carrier screening are acceptable strategies for prepregnancy and prenatal carrier screening. Because all of these are acceptable strategies, each obstetrician… 
Carrier Screening for Genetic Conditions
Decision-making for prenatal genetic screening: how will pregnant women navigate a growing number of aneuploidy and carrier screening options?
Patients’ baseline knowledge of prenatal Genetic screens coupled with evolving decision-making preferences presents challenges for the delivery of prenatal genetic screens, and calls for the development and implementation of innovative approaches to support pregnant patients’ decision- making commensurate with advances in prenatal genomics.
Development and use of the Australian reproductive genetic carrier screening decision aid
A decision aid to support informed decision-making in MM, suitable for couples who were either non-pregnant or in early pregnancy and may become a very useful tool in supporting couples’ decision making and contribute to RGCS being feasible for scaled-up implementation.
Interest in Cancer Predisposition Testing and Carrier Screening Offered as Part of Routine Healthcare Among an Ethnically Diverse Sample of Young Women
Signs of substantial interest in both cancer predisposition testing and carrier screening among young women as part of routine healthcare with similar interest between Latina and non-Latina women are shown.
Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels
A high cumulative carrier rate across genes is highlighted, underscoring the need for careful selection of genes for screening and guiding the design of carrier screening panels.
Evaluating the experiences of individuals with personal health risks identified through expanded carrier screening
The results of this study suggest that receiving PHR information was useful and was positively influenced by both pre-test education and the genetic counseling process.
Expanded universal carrier screening and its implementation within a publicly funded healthcare service
There is insufficient evidence to inform the development of a publicly funded, expanded, universal carrier screening programme that would justify investment over other healthcare interventions.
Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen
Based on screened patients predominantly with private coverage, preconception ECS is predicted to reduce the burden of Mendelian disease in a cost-effective manner compared with minimal screening.
University of Groningen GP-provided couple-based expanded preconception carrier screening in the Dutch general population
The results demonstrate that previously uninformed couples of reproductive age, albeit a selective part, were interested in and chose to have couple-based ECS and practical barriers prevented some interested couples from participating, is recommended before nationwide implementation.


Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening.
To quantify the modeled risk of recessive conditions identifiable by an expanded carrier screening panel in individuals of diverse racial and ethnic backgrounds and to compare the results with those from current screening recommendations, retrospective modeling analysis of results between January 1, 2012, and July 15, 2015 is analyzed.
Where to Draw the Boundaries for Prenatal Carrier Screening.
The study by Haque et al1 goes well beyond currently recommended tests to include a carrier screening panel for up to 94 conditions for 346 790 individuals as part of their regular clinical prenatal care, using modern molecular genetic technology.
NGS‐Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine
An NGS carrier‐screening test that includes 200 genes associated with 368 disorders that identifies 56% of individuals who are carriers for at least one genetic condition and 1.7% of female donors who were excluded from the program due to a carrier state of X‐linked conditions.
Ethical and Policy Issues in Genetic Testing and Screening of Children
This policy statement represents recommendations developed collaboratively by the American Academy of Pediatrics and the American College of Medical Genetics and Genomics with respect to many of the scenarios in which genetic testing and screening can occur.
Carrier screening for genetic conditions . Committee Opinion No . 691 . American College of Obstetricians and Gynecologists
  • Obstet Gynecol
  • 2017