Choosing an expanded carrier screening panel: comparing two panels at a single fertility centre

Bristow, Sara L.; Morris, Joshua; Peyser, Alexandra; Gamma, Amber; Singer, T.; Mullin, Christine; Onel, Kenan; Hershlag, Avner

doi:10.1016/j.rbmo.2018.11.018

Cited by 9 publications

(6 citation statements)

References 15 publications

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“…A study conducted at a Jewish genetics center using a panel of 84 disorders and Fragile X had a carrier couple rate of 4.3% 18 . Another study reported rates of 1.2% and 3.1% for two ECS genotyping panels used 19 . The larger panel used in that study included screening for 307 genetic diseases.…”

Section: Discussionmentioning

confidence: 99%

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Reproductive male partner testing when the female is identified to be a genetic disease carrier

et al. 2020

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Objective To quantify carrier testing uptake rates for male partners of women found to be a carrier(s) for autosomal recessive conditions and to understand reasons for declining testing (uptake rate). Methods A retrospective chart review of 513 female patients seen at Rutgers‐Robert Wood Johnson Medical School found to be carriers through expanded carrier screening (ECS) panels. The aims of this study were to determine how often their male partner chose testing, reasons for declining and the type of methodology chosen for their screening. Results Male partner uptake rate was 77%. We identified that the most significant barrier to male partner testing is female patients not following up on their own carrier screening results, thus missing the opportunity for partner testing. When male partners were provided options for testing, the most reported reason for declining is the belief it would have no impact on pregnancy management (20%). A carrier couple rate of 8.3% was identified of partners tested. Conclusion Despite a relatively high male testing uptake rate, a quarter of carrier females did not proceed with testing their partner. To ascertain fetal risk, results for both parents is necessary. Pretest counseling should stress need for potential male partner follow‐up testing.

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Section: Discussionmentioning

confidence: 99%

“…for two ECS genotyping panels used. 19 The larger panel used in that study included screening for 307 genetic diseases. The panels offered at our clinic varied in number of conditions and variants screened, with most panels including 100 to 150 different conditions.…”

Section: Discussionmentioning

confidence: 99%

Reproductive male partner testing when the female is identified to be a genetic disease carrier

et al. 2020

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“…Multiple high-throughput platforms, including microarray 7 and next generation sequencing (NGS) 8 , have been used for ECS since its introduction into clinical practice in 2011. In recent years, NGS has become a unifying platform for ECS because of its capacity to identify rare or novel pathogenic variants and to analyze multiple genes and multiple samples simultaneously in a cost-effective manner 9 .…”

Section: Introductionmentioning

confidence: 99%

A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population

Tan

Yu³

et al. 2022

npj Genom. Med.

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Expanded carrier screening, a type of reproductive genetic testing for couples, has gained tremendous popularity for assessing the risk of passing on certain genetic conditions to offspring. Here, a carrier screening assay for 448 pathogenic variants was developed using capillary electrophoresis-based multiplex PCR technology. The capillary electrophoresis-based multiplex PCR assay achieved a sensitivity, specificity, and accuracy of 97.4%, 100%, and 99.6%, respectively, in detecting the specific variants. Among the 1915 couples (3830 individuals), 708 individuals (18.5%) were identified as carriers for at least one condition. Of the 708 carriers, 633 (89.4%) were heterozygous for one condition, 71 (10.0%) for two disorders, 3 (0.4%) for three disorders, and 1 (0.1%) for four disorders. Meanwhile, 30 (1.57%) couples were identified as at‐risk couples. This study describes an inexpensive and effective method for expanded carrier screening. The simplicity and accuracy of this approach will facilitate the clinical implementation of expanded carrier screening.

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“…Eight observational studies reported carrier couple rates that ranged from 0.1% to 16.9% (Akler et al., 2020; Bristow et al., 2019; Franasiak et al., 2016; Giles Choates et al., 2020; Peyser et al., 2019; Punj et al., 2018; Wei et al., 2007). The specific populations, panels used, and conditions/genes/mutations assessed varied widely in these studies, precluding meta‐analysis.…”

Section: Resultsmentioning

confidence: 99%

Expanded carrier screening in the United States: A systematic evidence review exploring client and provider experiences

Ramdaney

Lichten

Propst

et al. 2022

Journal of Genetic Counseling

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The aim of carrier screening is to identify prospective parents at risk of having a pregnancy affected with an autosomal recessive or X‐linked disorder. Though minimal guideline‐based screening is available, expanded carrier screening (ECS) is quickly becoming a feasible option for the general population due to its growing availability and affordability. However, the impact of ECS on clients and providers remains relatively unexplored. We performed a systematic evidence review to identify publications describing client‐, provider‐, and test‐related outcomes. We searched several biomedical databases for articles published between January 1, 2003 and May 31, 2021. Studies were eligible for inclusion if they described genetic counseling and/or genetic testing for carrier screening (minimal guideline‐based or ECS) in a prenatal or preconception setting in the United States. Title and abstract screening were performed using the Raayan web application or customized Google Forms. Full‐text review and data extraction of included articles were performed using custom Google Forms. Two researchers performed a multistep selection process independently for validation purposes. Of 5413 unique articles screened, 36 studies were included with several studies contributing to multiple outcomes. Twenty described outcomes relating to patients/clients, 10 described provider‐based outcomes, and 16 described test‐based outcomes. Findings suggest that client and provider perceptions of ECS and minimal guideline‐based carrier screening are multifaceted. Though clients have expressed desire for ECS, clinical uptake and impact on reproductive decision‐making varies. Additionally, though genetic counselors seem to be comfortable with ECS, most other reproductive care providers seem to prefer minimal guideline or ancestry‐based screening due to perceived barriers, such as time needed for ECS results disclosure and follow‐up, as well as the desire to have panels set by professional societies/recommendations. There are limitations within the gathered literature, leading to potential uncertainty in the generalizability of our review. We outline several recommendations for future studies, including the need to examine variant interpretation and use of next‐generation sequencing.

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Choosing an expanded carrier screening panel: comparing two panels at a single fertility centre

Cited by 9 publications

References 15 publications

Reproductive male partner testing when the female is identified to be a genetic disease carrier

Reproductive male partner testing when the female is identified to be a genetic disease carrier

A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population

Expanded carrier screening in the United States: A systematic evidence review exploring client and provider experiences

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