{"doi":"10.1101/2021.06.24.21259406","title":"Defining the Critical Components of Informed Consent for Genetic Testing: A Delphi Study","abstract":"ABSTRACT Purpose Informed consent for genetic testing has historically happened during pre-test genetic counseling, without specific guidance defining which core concepts are required. Methods The Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendations Workgroup (CADRe) used a modified Expert Delphi consensus process to identify the core concepts essential to consent for clinical genetic testing. A literature review identified 77 concepts that are included in informed consent for genetic tests. Twenty five experts (9 medical geneticists, 8 genetic counselors, and 9 bioethicists) completed two rounds of Delphi surveys ranking concepts’ importance to informed consent. Results The most highly ranked concepts included: (1) genetic testing is voluntary; (2) why the test is recommended and what does it test for; (3) what results will be returned and to whom; (4) are there other types of potential results; what choices exist; (5) how will prognosis and management be impacted by results; (6) what is the potential family impact; (7) what are the test limitations and next steps; (8) potential risk for genetic discrimination and legal protections. Conclusion Defining the core concepts necessary for informed consent for genetic testing provides a foundation for quality patient care across a variety of healthcare providers and clinical indications.","journal":"medRxiv","year":2021,"id":218990,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":2,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.965,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":817556,"name":"Maia Borensztein","orcid":null,"position":1,"is_corresponding":false},{"id":257681,"name":"Miranda L. G. Hallquist","orcid":"0000-0001-8554-2447","position":2,"is_corresponding":false},{"id":109468,"name":"Adam H. Buchanan","orcid":"0000-0002-6518-2453","position":3,"is_corresponding":false},{"id":697982,"name":"W. Andrew Faucett","orcid":"0000-0003-3051-3256","position":4,"is_corresponding":false},{"id":452616,"name":"Holly L. Peay","orcid":"0000-0002-3053-7453","position":5,"is_corresponding":false},{"id":369113,"name":"Maureen E. Smith","orcid":"0000-0001-9480-1092","position":6,"is_corresponding":false},{"id":697981,"name":"Eric P. Tricou","orcid":"0000-0002-8098-1990","position":7,"is_corresponding":false},{"id":318274,"name":"Wendy R. Uhlmann","orcid":"0000-0002-4243-438X","position":8,"is_corresponding":false},{"id":628375,"name":"Karen E. Wain","orcid":"0000-0002-3711-7670","position":9,"is_corresponding":false},{"id":11289,"name":"Curtis R. Coughlin","orcid":"0000-0002-3545-7903","position":10,"is_corresponding":false},{"id":11031,"name":"Kelly E. Ormond","orcid":"0000-0002-1033-0818","position":0,"is_corresponding":true}],"reference_count":27,"raw_metadata":null,"created_at":"2026-07-18T23:53:33.915158Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}