{"doi":"10.1038/gim.2014.119","title":"Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families","abstract":null,"journal":"Genetics in Medicine","year":2015,"id":679895,"datarank":0.29188652235829704,"base_score":1.9459101490553132,"endowment":1.9459101490553132,"self_citation_contribution":0.29188652235829704,"citation_network_contribution":0.0,"self_endowment_contribution":0.29188652235829704,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":6,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1776420,"name":"Holly K. Tabor","orcid":null,"position":1,"is_corresponding":false},{"id":1776421,"name":"Penny M. Chow","orcid":null,"position":2,"is_corresponding":false},{"id":1776422,"name":"Jessie H. Conta","orcid":null,"position":3,"is_corresponding":false},{"id":965824,"name":"Kenneth W. Feldman","orcid":"0000-0002-9020-5223","position":4,"is_corresponding":false},{"id":899511,"name":"Karen D. Tsuchiya","orcid":"0000-0003-1406-5000","position":5,"is_corresponding":false},{"id":308533,"name":"Anita E. Beck","orcid":"0000-0002-7965-0326","position":6,"is_corresponding":false},{"id":1776419,"name":"Fernanda Delgado","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families","abstract":"<h4>Purpose</h4>The broad use of single-nucleotide polymorphism microarrays has increased identification of unexpected consanguinity. Therefore, guidelines to address reporting of consanguinity have been published for clinical laboratories. Because no such guidelines for clinicians exist, we describe a case and present recommendations for clinicians to disclose unexpected consanguinity to families.<h4>Methods</h4>In a boy with multiple endocrine abnormalities and structural birth defects, single-nucleotide polymorphism array analysis revealed ~23% autosomal homozygosity suggestive of a first-degree parental relationship. We assembled an interdisciplinary health-care team, planned the most appropriate way to discuss results of the single-nucleotide polymorphism array with the adult mother, including the possibility of multiple autosomal recessive disorders in her child, and finally met with her as a team.<h4>Results</h4>From these discussions, we developed four major considerations for clinicians returning results of unexpected consanguinity, all guided by the child's best interests: (i) ethical and legal obligations for reporting possible abuse, (ii) preservation of the clinical relationship, (iii) attention to justice and psychosocial challenges, and (iv) utilization of the single-nucleotide polymorphism array results to guide further testing.<h4>Conclusion</h4>As single-nucleotide polymorphism arrays become a common clinical diagnostic tool, clinicians can use this framework to return results of unexpected consanguinity to families in a supportive and productive manner.","is_dataset_classified":null,"base_score":1.9459101490553132,"endowment":1.9459101490553132,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"25232848","pmcid":"PMC4404161","openalex_id":"https://openalex.org/W2032340298","authors":[],"funders":[{"funder_name":"PHS HHS","grant_id":"5R0OHG004316-0","title":null},{"funder_name":"NICHD NIH HHS","grant_id":"K23 HD057331","title":null},{"funder_name":"NICHD NIH HHS","grant_id":"5K23HD057331","title":null},{"funder_name":"National Institutes of Health","grant_id":"5K23HD057331-02","title":"Identifying the Genetic and Molecular Basis of Clubfoot"}],"total_grants":4,"fwci":0.1503,"citation_percentile":0.50066092,"influential_citations":0,"citation_trend":[{"year":2014,"count":1},{"year":2018,"count":1},{"year":2019,"count":1},{"year":2020,"count":1},{"year":2023,"count":1},{"year":2024,"count":1}],"oa_status":"bronze","license":"Elsevier Non-Commercial","oa_locations":[{"url":"https://www.nature.com/articles/gim2014119.pdf","host_type":"journal"},{"url":"https://www.nature.com/articles/gim2014119.pdf","host_type":"publisher"},{"url":"http://www.nature.com/articles/gim2014119.pdf","host_type":"publisher"},{"url":"http://www.nature.com/articles/gim2014119","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S1098360021030446?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S1098360021030446?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1038/gim.2014.119","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/25232848","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4404161","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC4404161","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC4404161?pdf=render","host_type":"Europe_PMC"},{"url":"http://dx.doi.org/10.1038/gim.2014.119","host_type":""},{"url":"https://dx.doi.org/10.1038/gim.2014.119","host_type":""}],"fields_of_study":["Hemoglobinopathies and Related Disorders","Folate and B Vitamins Research","Genomics and Rare Diseases","0301 basic medicine","0303 health sciences","03 medical and health sciences","Chromosome Mapping","Consanguinity","Family","Homozygote","Humans","Incidental Findings","Infant","Male","Oligonucleotide Array Sequence Analysis","Physicians","Polymorphism, Single Nucleotide","Truth Disclosure"],"mesh_terms":["Chromosome Mapping","Consanguinity","Family","Homozygote","Humans","Infant","Male","Physicians","Truth Disclosure","Oligonucleotide Array Sequence Analysis","Polymorphism, Single Nucleotide","Incidental Findings"],"keywords":["Consanguinity","Psychosocial","Medicine","Single-nucleotide polymorphism","Disease gene identification","Genetics","Exome sequencing","Pediatrics","Biology","Psychiatry","Genotype","Mutation","Gene","Male","Incidental Findings","Homozygote","Chromosome Mapping","Infant","Truth Disclosure","Polymorphism, Single Nucleotide","Article","Physicians","Humans","Family","Oligonucleotide Array Sequence Analysis"],"sdg_mappings":[{"sdg_number":3,"sdg_label":"3. 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