Expanded carrier screening: A review of early implementation and literature
Abstract Carrier screening is the practice of testing individuals to identify those at increased risks of having children affected by genetic diseases. Professional guidelines on carrier screening have been available for more than 15 years, and have historically targeted specific diseases that occur...
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| Veröffentlicht in: | Seminars in perinatology 2016-02, Vol.40 (1), p.29-34 |
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| container_title | Seminars in perinatology |
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| creator | Lazarin, Gabriel A., MS Haque, Imran S., PhD |
| description | Abstract Carrier screening is the practice of testing individuals to identify those at increased risks of having children affected by genetic diseases. Professional guidelines on carrier screening have been available for more than 15 years, and have historically targeted specific diseases that occur at increased frequencies in defined ethnic populations. Enabled by rapidly evolving technology, expanded carrier screening aims to identify carriers for a broader array of diseases and may be applied universally (equally across all ethnic groups). This new approach deviates from the well-established criteria for screening models. In this review, we summarize the rationale for expanded carrier screening using available literature regarding clinical and technical data, as well as provider perspectives. We also discuss important avenues for further research in this burgeoning field. |
| doi_str_mv | 10.1053/j.semperi.2015.11.005 |
| format | Article |
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Professional guidelines on carrier screening have been available for more than 15 years, and have historically targeted specific diseases that occur at increased frequencies in defined ethnic populations. Enabled by rapidly evolving technology, expanded carrier screening aims to identify carriers for a broader array of diseases and may be applied universally (equally across all ethnic groups). This new approach deviates from the well-established criteria for screening models. In this review, we summarize the rationale for expanded carrier screening using available literature regarding clinical and technical data, as well as provider perspectives. We also discuss important avenues for further research in this burgeoning field.</description><identifier>ISSN: 0146-0005</identifier><identifier>EISSN: 1558-075X</identifier><identifier>DOI: 10.1053/j.semperi.2015.11.005</identifier><identifier>PMID: 26718446</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>carrier screening ; Cystic Fibrosis - diagnosis ; Cystic Fibrosis - genetics ; Ethnic Groups - genetics ; expanded carrier screening ; Genes, Recessive - genetics ; Genetic Carrier Screening - methods ; Genetic Diseases, Inborn - diagnosis ; Genetic Diseases, Inborn - genetics ; Genetic Testing - methods ; genetics ; Humans ; Muscular Atrophy, Spinal - diagnosis ; Muscular Atrophy, Spinal - genetics ; Neonatal and Perinatal Medicine ; Practice Guidelines as Topic ; preconception ; Preconception Care - methods ; prenatal ; recessive disease</subject><ispartof>Seminars in perinatology, 2016-02, Vol.40 (1), p.29-34</ispartof><rights>The Authors</rights><rights>2016 The Authors</rights><rights>Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c537t-7406f6fc5356e5eeac7ae4411c3f9f3e1a081a267309dcdb238bc1442530934b3</citedby><cites>FETCH-LOGICAL-c537t-7406f6fc5356e5eeac7ae4411c3f9f3e1a081a267309dcdb238bc1442530934b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0146000515001597$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26718446$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lazarin, Gabriel A., MS</creatorcontrib><creatorcontrib>Haque, Imran S., PhD</creatorcontrib><title>Expanded carrier screening: A review of early implementation and literature</title><title>Seminars in perinatology</title><addtitle>Semin Perinatol</addtitle><description>Abstract Carrier screening is the practice of testing individuals to identify those at increased risks of having children affected by genetic diseases. Professional guidelines on carrier screening have been available for more than 15 years, and have historically targeted specific diseases that occur at increased frequencies in defined ethnic populations. Enabled by rapidly evolving technology, expanded carrier screening aims to identify carriers for a broader array of diseases and may be applied universally (equally across all ethnic groups). This new approach deviates from the well-established criteria for screening models. In this review, we summarize the rationale for expanded carrier screening using available literature regarding clinical and technical data, as well as provider perspectives. We also discuss important avenues for further research in this burgeoning field.</description><subject>carrier screening</subject><subject>Cystic Fibrosis - diagnosis</subject><subject>Cystic Fibrosis - genetics</subject><subject>Ethnic Groups - genetics</subject><subject>expanded carrier screening</subject><subject>Genes, Recessive - genetics</subject><subject>Genetic Carrier Screening - methods</subject><subject>Genetic Diseases, Inborn - diagnosis</subject><subject>Genetic Diseases, Inborn - genetics</subject><subject>Genetic Testing - methods</subject><subject>genetics</subject><subject>Humans</subject><subject>Muscular Atrophy, Spinal - diagnosis</subject><subject>Muscular Atrophy, Spinal - genetics</subject><subject>Neonatal and Perinatal Medicine</subject><subject>Practice Guidelines as Topic</subject><subject>preconception</subject><subject>Preconception Care - methods</subject><subject>prenatal</subject><subject>recessive disease</subject><issn>0146-0005</issn><issn>1558-075X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU-P1DAMxSMEYoeFjwDKkUuL3SRthwNotVr-iJU4ABK3KJO6KEObFqddmG9PRjNw4MLJsvXec_KzEE8RSgSjXuzLRONMHMoK0JSIJYC5JzZoTFtAY77eFxtAXReQ5xfiUUp7AKW3CA_FRVU32Gpdb8SHm1-zix110jvmQCyTZ6IY4reX8koy3QX6KadekuPhIMM4DzRSXNwSpiizUw5hIXbLyvRYPOjdkOjJuV6KL29uPl-_K24_vn1_fXVbeKOapWg01H3d58bUZIicbxxpjehVv-0VoYMWXX6igm3nu12l2p1HrSuTB0rv1KV4fsqdefqxUlrsGJKnYXCRpjVZbOpKadUiZqk5ST1PKTH1duYwOj5YBHvkaPf2zNEeOVpEm3ll37PzinU3UvfX9QdcFrw-CSh_NDNim3yg6KkLTH6x3RT-u-LVPwl-CDF4N3ynA6X9tHLMFC3aVFmwn47HPN4SDeSUbaN-A0Upm1I</recordid><startdate>20160201</startdate><enddate>20160201</enddate><creator>Lazarin, Gabriel A., MS</creator><creator>Haque, Imran S., PhD</creator><general>Elsevier Inc</general><scope>6I.</scope><scope>AAFTH</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20160201</creationdate><title>Expanded carrier screening: A review of early implementation and literature</title><author>Lazarin, Gabriel A., MS ; Haque, Imran S., PhD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c537t-7406f6fc5356e5eeac7ae4411c3f9f3e1a081a267309dcdb238bc1442530934b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>carrier screening</topic><topic>Cystic Fibrosis - diagnosis</topic><topic>Cystic Fibrosis - genetics</topic><topic>Ethnic Groups - genetics</topic><topic>expanded carrier screening</topic><topic>Genes, Recessive - genetics</topic><topic>Genetic Carrier Screening - methods</topic><topic>Genetic Diseases, Inborn - diagnosis</topic><topic>Genetic Diseases, Inborn - genetics</topic><topic>Genetic Testing - methods</topic><topic>genetics</topic><topic>Humans</topic><topic>Muscular Atrophy, Spinal - diagnosis</topic><topic>Muscular Atrophy, Spinal - genetics</topic><topic>Neonatal and Perinatal Medicine</topic><topic>Practice Guidelines as Topic</topic><topic>preconception</topic><topic>Preconception Care - methods</topic><topic>prenatal</topic><topic>recessive disease</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lazarin, Gabriel A., MS</creatorcontrib><creatorcontrib>Haque, Imran S., PhD</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Seminars in perinatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lazarin, Gabriel A., MS</au><au>Haque, Imran S., PhD</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Expanded carrier screening: A review of early implementation and literature</atitle><jtitle>Seminars in perinatology</jtitle><addtitle>Semin Perinatol</addtitle><date>2016-02-01</date><risdate>2016</risdate><volume>40</volume><issue>1</issue><spage>29</spage><epage>34</epage><pages>29-34</pages><issn>0146-0005</issn><eissn>1558-075X</eissn><abstract>Abstract Carrier screening is the practice of testing individuals to identify those at increased risks of having children affected by genetic diseases. Professional guidelines on carrier screening have been available for more than 15 years, and have historically targeted specific diseases that occur at increased frequencies in defined ethnic populations. Enabled by rapidly evolving technology, expanded carrier screening aims to identify carriers for a broader array of diseases and may be applied universally (equally across all ethnic groups). This new approach deviates from the well-established criteria for screening models. In this review, we summarize the rationale for expanded carrier screening using available literature regarding clinical and technical data, as well as provider perspectives. We also discuss important avenues for further research in this burgeoning field.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>26718446</pmid><doi>10.1053/j.semperi.2015.11.005</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Seminars in perinatology, 2016-02, Vol.40 (1), p.29-34 |
| issn | 0146-0005 1558-075X |
| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals Complete |
| subjects | carrier screening Cystic Fibrosis - diagnosis Cystic Fibrosis - genetics Ethnic Groups - genetics expanded carrier screening Genes, Recessive - genetics Genetic Carrier Screening - methods Genetic Diseases, Inborn - diagnosis Genetic Diseases, Inborn - genetics Genetic Testing - methods genetics Humans Muscular Atrophy, Spinal - diagnosis Muscular Atrophy, Spinal - genetics Neonatal and Perinatal Medicine Practice Guidelines as Topic preconception Preconception Care - methods prenatal recessive disease |
| title | Expanded carrier screening: A review of early implementation and literature |
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