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

@article{2017CommitteeON,
  title={Committee Opinion No. 690 Summary: Carrier Screening in the Age of Genomic Medicine.},
  author={},
  journal={Obstetrics and gynecology},
  year={2017},
  volume={129 3},
  pages={
          595-596
        }
}
  • 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… 
Expanded carrier screening in reproductive medicine
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Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a
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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.
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Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels
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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.
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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.
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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
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ECS is predicted to reduce the population burden of Mendelian disease in a cost-effective manner compared to many other common medical interventions.
Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen
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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
Next generation sequencing has enabled fast and relatively inexpensive expanded carrier screening (ECS) that can inform couples’ reproductive decisions before conception and during pregnancy. We
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References

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Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening.
TLDR
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.
TLDR
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
TLDR
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
TLDR
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