{"id":"https://openalex.org/W7214741125","doi":"https://doi.org/10.5935/1518-0557.20260061","title":"Preimplantation genetic testing to determine polygenic disease risk: Will we know when to stop?","display_name":"Preimplantation genetic testing to determine polygenic disease risk: Will we know when to stop?","publication_year":2026,"publication_date":"2026-01-01","ids":{"openalex":"https://openalex.org/W7214741125","doi":"https://doi.org/10.5935/1518-0557.20260061","pmid":"https://pubmed.ncbi.nlm.nih.gov/42804683"},"language":"en","primary_location":{"id":"doi:10.5935/1518-0557.20260061","doi":"https://doi.org/10.5935/1518-0557.20260061","is_oa":true,"landing_page_url":"https://doi.org/10.5935/1518-0557.20260061","pdf_url":"https://doi.org/10.5935/1518-0557.20260061","source":{"id":"https://openalex.org/S2764484146","display_name":"JBRA","issn_l":"1517-5693","issn":["1517-5693","1518-0557"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","ki-jl-1","medline","poland-20","russia-white-list-2"],"host_organization":"https://openalex.org/P4310312033","host_organization_name":"Brazilian Society of Assisted Reproduction","host_organization_lineage":["https://openalex.org/P4310312033"],"host_organization_lineage_names":["Brazilian Society of Assisted Reproduction"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JBRA Assisted Reproduction","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://doi.org/10.5935/1518-0557.20260061","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5110490163","display_name":"Daniela Paes de Almeida Ferreira Braga","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Daniela Braga","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090976681","display_name":"Amanda Souza Setti","orcid":"https://orcid.org/0000-0001-7869-5285","observed_orcids":["https://orcid.org/0000-0001-7869-5285"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Amanda Setti","raw_affiliation_strings":["Instituto Sapientiae. S\u00e3o Paulo-Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Instituto Sapientiae. S\u00e3o Paulo-Brazil","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111337746","display_name":"Rose Marie Massaro Melamed","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210116958","display_name":"Fertility Medical Group","ror":"https://ror.org/02f09jf04","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210116958"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Rose Marie Melamed","raw_affiliation_strings":["Fertility/FERTGROUP- Medicina Reprodutiva S\u00e3o Paulo-Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fertility/FERTGROUP- Medicina Reprodutiva S\u00e3o Paulo-Brazil","institution_ids":["https://openalex.org/I4210116958"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5051939732","display_name":"Edson Borges","orcid":"https://orcid.org/0000-0002-4971-1925","observed_orcids":["https://orcid.org/0000-0002-4971-1925","https://orcid.org/0000-0002-9249-5172"]},"institutions":[{"id":"https://openalex.org/I4210116958","display_name":"Fertility Medical Group","ror":"https://ror.org/02f09jf04","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210116958"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Edson Borges Jr","raw_affiliation_strings":["Fertility/FERTGROUP- Medicina Reprodutiva S\u00e3o Paulo-Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fertility/FERTGROUP- Medicina Reprodutiva S\u00e3o Paulo-Brazil","institution_ids":["https://openalex.org/I4210116958"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.67418204,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"30","issue":null,"first_page":"1","last_page":"3"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.6610999703407288,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.6610999703407288,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11732","display_name":"Assisted Reproductive Technology and Twin Pregnancy","score":0.0885000005364418,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T13275","display_name":"Medical and Health Sciences Research","score":0.08730000257492065,"subfield":{"id":"https://openalex.org/subfields/3308","display_name":"Law"},"field":{"id":"https://openalex.org/fields/33","display_name":"Social Sciences"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/preimplantation-genetic-testing","display_name":"preimplantation genetic testing","score":0.9319999814033508},{"id":"https://openalex.org/keywords/polygenic-risk-score","display_name":"polygenic risk score","score":0.949999988079071},{"id":"https://openalex.org/keywords/assisted-reproductive-technology","display_name":"assisted reproduction","score":0.6620000004768372},{"id":"https://openalex.org/keywords/ethical-issues","display_name":"ethical considerations","score":0.628000020980835},{"id":"https://openalex.org/keywords/stakeholder-attitudes","display_name":"stakeholder attitudes","score":0.5899999737739563},{"id":"https://openalex.org/keywords/informed-decision-making","display_name":"informed decision-making","score":0.9120000004768372},{"id":"https://openalex.org/keywords/prospective-parents","display_name":"prospective parents","score":0.6050000190734863},{"id":"https://openalex.org/keywords/public-awareness","display_name":"public awareness","score":0.39800000190734863},{"id":"https://openalex.org/keywords/cardiovascular-disease","display_name":"cardiovascular disease","score":0.578000009059906},{"id":"https://openalex.org/keywords/cancer-risk","display_name":"cancer risk","score":0.7360000014305115}],"concepts":[{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.6347000002861023},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.560699999332428},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4738999903202057},{"id":"https://openalex.org/C143095724","wikidata":"https://www.wikidata.org/wiki/Q515895","display_name":"Odds","level":3,"score":0.4424000084400177},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.43720000982284546},{"id":"https://openalex.org/C112930515","wikidata":"https://www.wikidata.org/wiki/Q4389547","display_name":"Risk analysis (engineering)","level":1,"score":0.41359999775886536},{"id":"https://openalex.org/C2776035091","wikidata":"https://www.wikidata.org/wiki/Q7928819","display_name":"Viewpoints","level":2,"score":0.39500001072883606},{"id":"https://openalex.org/C2778012447","wikidata":"https://www.wikidata.org/wiki/Q1034415","display_name":"Scope (computer science)","level":2,"score":0.3815000057220459},{"id":"https://openalex.org/C9287583","wikidata":"https://www.wikidata.org/wiki/Q5532883","display_name":"Genetic architecture","level":4,"score":0.36970001459121704},{"id":"https://openalex.org/C12174686","wikidata":"https://www.wikidata.org/wiki/Q1058438","display_name":"Risk assessment","level":2,"score":0.3582000136375427},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.34880000352859497},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.34860000014305115},{"id":"https://openalex.org/C116567970","wikidata":"https://www.wikidata.org/wiki/Q864217","display_name":"Biobank","level":2,"score":0.3409999907016754},{"id":"https://openalex.org/C163763905","wikidata":"https://www.wikidata.org/wiki/Q17075943","display_name":"Precision medicine","level":2,"score":0.3181000053882599},{"id":"https://openalex.org/C98108635","wikidata":"https://www.wikidata.org/wiki/Q6497275","display_name":"Phenomics","level":5,"score":0.3176000118255615},{"id":"https://openalex.org/C66782513","wikidata":"https://www.wikidata.org/wiki/Q864601","display_name":"Biomedicine","level":2,"score":0.31049999594688416},{"id":"https://openalex.org/C2778805741","wikidata":"https://www.wikidata.org/wiki/Q1501356","display_name":"Preimplantation genetic diagnosis","level":3,"score":0.3010999858379364},{"id":"https://openalex.org/C2994278967","wikidata":"https://www.wikidata.org/wiki/Q7314318","display_name":"Reproductive technology","level":4,"score":0.29829999804496765},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2953999936580658},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.28110000491142273},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.2703999876976013},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.2702000141143799},{"id":"https://openalex.org/C2779473830","wikidata":"https://www.wikidata.org/wiki/Q1540899","display_name":"MEDLINE","level":2,"score":0.26989999413490295},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.26159998774528503},{"id":"https://openalex.org/C160735492","wikidata":"https://www.wikidata.org/wiki/Q31207","display_name":"Health care","level":2,"score":0.25429999828338623},{"id":"https://openalex.org/C201305675","wikidata":"https://www.wikidata.org/wiki/Q852998","display_name":"Stakeholder","level":2,"score":0.2524000108242035},{"id":"https://openalex.org/C2778149918","wikidata":"https://www.wikidata.org/wiki/Q3291156","display_name":"Population health","level":3,"score":0.25049999356269836}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.5935/1518-0557.20260061","doi":"https://doi.org/10.5935/1518-0557.20260061","is_oa":true,"landing_page_url":"https://doi.org/10.5935/1518-0557.20260061","pdf_url":"https://doi.org/10.5935/1518-0557.20260061","source":{"id":"https://openalex.org/S2764484146","display_name":"JBRA","issn_l":"1517-5693","issn":["1517-5693","1518-0557"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","ki-jl-1","medline","poland-20","russia-white-list-2"],"host_organization":"https://openalex.org/P4310312033","host_organization_name":"Brazilian Society of Assisted Reproduction","host_organization_lineage":["https://openalex.org/P4310312033"],"host_organization_lineage_names":["Brazilian Society of Assisted Reproduction"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JBRA Assisted Reproduction","raw_type":"journal-article"},{"id":"pmid:42804683","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42804683","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JBRA assisted reproduction","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.5935/1518-0557.20260061","doi":"https://doi.org/10.5935/1518-0557.20260061","is_oa":true,"landing_page_url":"https://doi.org/10.5935/1518-0557.20260061","pdf_url":"https://doi.org/10.5935/1518-0557.20260061","source":{"id":"https://openalex.org/S2764484146","display_name":"JBRA","issn_l":"1517-5693","issn":["1517-5693","1518-0557"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","ki-jl-1","medline","poland-20","russia-white-list-2"],"host_organization":"https://openalex.org/P4310312033","host_organization_name":"Brazilian Society of Assisted Reproduction","host_organization_lineage":["https://openalex.org/P4310312033"],"host_organization_lineage_names":["Brazilian Society of Assisted Reproduction"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JBRA Assisted Reproduction","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7214741125.pdf","grobid_xml":"https://content.openalex.org/works/W7214741125.grobid-xml"},"referenced_works_count":6,"referenced_works":["https://openalex.org/W2803332630","https://openalex.org/W2941398870","https://openalex.org/W2944729478","https://openalex.org/W4327900079","https://openalex.org/W4376136917","https://openalex.org/W4396903440"],"related_works":["https://openalex.org/W4405586057","https://openalex.org/W4391074319","https://openalex.org/W4388835600","https://openalex.org/W4401113634","https://openalex.org/W4327900079","https://openalex.org/W4376117468","https://openalex.org/W4399035777","https://openalex.org/W7052117990","https://openalex.org/W3024387194","https://openalex.org/W4200623875"],"abstract_inverted_index":{"Recent":[0],"advances":[1],"in":[2,56,92,161],"genomics":[3],"technologies":[4,215],"have":[5,117,172],"facilitated":[6],"the":[7,14,33,51,62,107,134,138,147,155,181,193,197,202,206,212,220,227],"introduction":[8,108],"of":[9,16,53,64,96,109,130,142,149,163,196,204,211,214,222,229],"new":[10],"tools":[11],"that":[12,35,174,216],"broaden":[13],"scope":[15],"applications":[17],"for":[18],"genetic":[19,22,97],"data.":[20],"Preimplantation":[21],"testing":[23],"using":[24],"polygenic":[25,87],"risk":[26,48,88],"scores":[27],"(PGT-P),":[28],"a":[29,57,83,93,127],"technique":[30,70],"based":[31],"on":[32,75],"fact":[34],"complex":[36],"traits":[37,221],"are":[38,190,241],"influenced":[39],"by":[40,158,179],"multiple":[41],"genes,":[42],"is":[43,123,176,209,231],"one":[44],"such":[45,99],"technology.":[46],"Polygenic":[47],"scoring":[49],"involves":[50],"analysis":[52],"many":[54],"genes":[55],"single":[58],"embryo":[59],"to":[60,82,125,146],"assess":[61],"odds":[63],"expressing":[65],"diseaseand":[66],"non-disease-related":[67],"factors.":[68],"This":[69],"could":[71,80,217],"alleviate":[72],"subsequent":[73],"burdens":[74],"healthcare":[76],"systems,":[77],"as":[78,100],"it":[79,122],"lead":[81],"population":[84,183,208],"with":[85,235],"reduced":[86],"scores,":[89],"potentially":[90,218],"resulting":[91],"lower":[94],"incidence":[95],"conditions,":[98],"cardiovascular":[101],"disease":[102],"and":[103,140,151,154,165,184],"cancer.":[104],"However,":[105],"following":[106],"PGT-P,":[110,143],"numerous":[111],"ethical":[112],"concerns":[113],"regarding":[114,133],"its":[115],"use":[116],"been":[118],"raised.":[119],"As":[120],"such,":[121],"crucial":[124],"gain":[126],"deeper":[128],"understanding":[129,164],"stakeholder":[131],"viewpoints":[132],"technique.":[135,198],"Worries":[136],"include":[137],"validity":[139],"utility":[141],"limitations":[144],"related":[145],"number":[148],"embryos":[150],"available":[152],"choices,":[153],"challenges":[156],"faced":[157],"prospective":[159],"parents":[160],"terms":[162],"making":[166],"informed":[167],"decisions.":[168],"Recently,":[169],"published":[170],"surveys":[171],"indicated":[173],"PGT-P":[175,230],"well":[177],"accepted":[178],"both":[180],"general":[182,207],"assisted":[185],"reproduction":[186],"patients;":[187],"however,":[188],"experts":[189],"concerned":[191],"about":[192],"premature":[194],"implementation":[195],"These":[199],"findings":[200],"raise":[201],"question":[203],"whether":[205],"aware":[210],"risks":[213],"manipulate":[219],"future":[223],"generations.":[224],"To":[225],"conclude,":[226],"value":[228],"indisputable":[232],"if":[233,238],"applied":[234],"caution,":[236],"especially":[237],"relevant":[239],"limits":[240],"not":[242],"exceeded.":[243]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2026-09-30T00:00:00"}