Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels Article Swipe

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YOU? · · 2018 · Open Access · · DOI: https://doi.org/10.1101/429050

Purpose Prenatal genetic carrier screening can identify parents at risk of having a child affected by a recessive condition. However, the conditions/genes most appropriate for screening remain a matter of debate. Estimates of carrier rates across genes are needed to guide construction of carrier screening panels. Methods We leveraged an exome sequencing database (n=123,136) to estimate carrier rates across 6 major ancestries for 416 genes associated with severe recessive conditions. Results 36.5% (East Asian) to 65% (Ashkenazi Jewish) of individuals are variant carriers in at least one of the 416 genes. For couples, screening all 416 genes would identify 0.4-2.8% of couples as being at-risk for having a child affected by one of these conditions. Screening just the 47 genes with carrier rate > 1.0% would identify more than 85% of these at-risk couples. An ancestry-specific panel designed to capture genes with carrier rates > 1.0% would include 6 to 30 genes, while a comparable pan-ethnic panel would include 47 genes. Conclusion Our work guides the design of carrier screening panels and provides data to assist in counseling prospective parents. Our results highlight a high cumulative carrier rate across genes, underscoring the need for careful selection of genes for screening.

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Gene Carrier testing Carrier signal Genetics Lifetime risk Genetic counseling Medicine Biology Prenatal diagnosis Computer science Cancer Pregnancy Telecommunications Fetus Transmission (telecommunications)

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Type: preprint
Language: en
Landing Page: https://doi.org/10.1101/429050
PDF: https://www.biorxiv.org/content/biorxiv/early/2018/09/29/429050.full.pdf
OA Status: green
Cited By: 10
References: 20
Related Works: 10
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DOI: https://doi.org/10.1101/429050

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Title: Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels

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Type: preprint

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Language: en

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Publication year: 2018

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Publication date: 2018-09-29

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Authors: Michael H. Guo, Anthony R. Gregg

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Landing page: https://doi.org/10.1101/429050

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PDF URL: https://www.biorxiv.org/content/biorxiv/early/2018/09/29/429050.full.pdf

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Concepts: Gene, Carrier testing, Carrier signal, Genetics, Lifetime risk, Genetic counseling, Medicine, Biology, Prenatal diagnosis, Computer science, Cancer, Pregnancy, Telecommunications, Fetus, Transmission (telecommunications)

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Cited by: 10

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abstract_inverted_index.(n=123,136)	54
abstract_inverted_index.appropriate	24
abstract_inverted_index.conditions.	70, 115
abstract_inverted_index.individuals	80
abstract_inverted_index.prospective	179
abstract_inverted_index.construction	42
abstract_inverted_index.underscoring	191
abstract_inverted_index.conditions/genes	22
abstract_inverted_index.ancestry-specific	136
cited_by_percentile_year.max	97
cited_by_percentile_year.min	89
countries_distinct_count	1
institutions_distinct_count	2
sustainable_development_goals[0].id	https://metadata.un.org/sdg/3
sustainable_development_goals[0].score	0.5099999904632568
sustainable_development_goals[0].display_name	Good health and well-being
citation_normalized_percentile.value	0.79154239
citation_normalized_percentile.is_in_top_1_percent	False
citation_normalized_percentile.is_in_top_10_percent	False