{"title":"Development of a question prompt list to support Consent for Genomic Testing (CoGenT) and research.","authors":"Jolyn Hersch, Lauren O'Hara, Phyllis Butow, Mandy Ballinger, Rebekah Laidsaar-Powell, Nicci Bartley, Kirsten McCaffery, Anastasia Latin, Christine Cockburn, Caitlin Delaney, Katherine M Tucker, Ilona Juraskova","doi":"10.1007/s00439-026-02839-0","DOIUrl":null,"url":null,"abstract":"<p><p>While genomic testing is increasingly utilised to personalise cancer treatment, its complexity creates challenges in achieving informed consent. Partnering with patients, carers, researchers and health professionals, we developed a Question Prompt List (QPL) aiming to support communication and informed consent for tumour profiling and genomic research in oncology. Participants (n = 38) included cancer patients participating (or not) in genomic research, carers, researchers and clinicians. Two rounds of interviews elicited information needs and suggested questions, followed by feedback on the draft QPL and its potential value. We produced concise answers for all questions, edited wording using health literacy principles, and refined according to feedback. The QPL includes 29 items arranged into three sections: Comprehensive Genomic Profiling (CGP), Results of CGP, and About the Genomic Research Study. Participants believed the QPL would empower patients and carers, support clinicians and researchers to engage with patient/family queries, and enable better informed consent in genomic oncology. The Consent in Genomic Testing (CoGenT) Question Prompt List, including evidence-based answers, has been developed rigorously and collaboratively. This simple and flexible tool is perceived as acceptable and useful for patients, carers, clinicians, and research personnel engaging in informed consent for genomic research including tumour profiling.</p>","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":"145 1","pages":""},"PeriodicalIF":3.4000,"publicationDate":"2026-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13194191/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Human Genetics","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1007/s00439-026-02839-0","RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
While genomic testing is increasingly utilised to personalise cancer treatment, its complexity creates challenges in achieving informed consent. Partnering with patients, carers, researchers and health professionals, we developed a Question Prompt List (QPL) aiming to support communication and informed consent for tumour profiling and genomic research in oncology. Participants (n = 38) included cancer patients participating (or not) in genomic research, carers, researchers and clinicians. Two rounds of interviews elicited information needs and suggested questions, followed by feedback on the draft QPL and its potential value. We produced concise answers for all questions, edited wording using health literacy principles, and refined according to feedback. The QPL includes 29 items arranged into three sections: Comprehensive Genomic Profiling (CGP), Results of CGP, and About the Genomic Research Study. Participants believed the QPL would empower patients and carers, support clinicians and researchers to engage with patient/family queries, and enable better informed consent in genomic oncology. The Consent in Genomic Testing (CoGenT) Question Prompt List, including evidence-based answers, has been developed rigorously and collaboratively. This simple and flexible tool is perceived as acceptable and useful for patients, carers, clinicians, and research personnel engaging in informed consent for genomic research including tumour profiling.
期刊介绍：
Human Genetics is a monthly journal publishing original and timely articles on all aspects of human genetics. The Journal particularly welcomes articles in the areas of Behavioral genetics, Bioinformatics, Cancer genetics and genomics, Cytogenetics, Developmental genetics, Disease association studies, Dysmorphology, ELSI (ethical, legal and social issues), Evolutionary genetics, Gene expression, Gene structure and organization, Genetics of complex diseases and epistatic interactions, Genetic epidemiology, Genome biology, Genome structure and organization, Genotype-phenotype relationships, Human Genomics, Immunogenetics and genomics, Linkage analysis and genetic mapping, Methods in Statistical Genetics, Molecular diagnostics, Mutation detection and analysis, Neurogenetics, Physical mapping and Population Genetics. Articles reporting animal models relevant to human biology or disease are also welcome. Preference will be given to those articles which address clinically relevant questions or which provide new insights into human biology.
Unless reporting entirely novel and unusual aspects of a topic, clinical case reports, cytogenetic case reports, papers on descriptive population genetics, articles dealing with the frequency of polymorphisms or additional mutations within genes in which numerous lesions have already been described, and papers that report meta-analyses of previously published datasets will normally not be accepted.
The Journal typically will not consider for publication manuscripts that report merely the isolation, map position, structure, and tissue expression profile of a gene of unknown function unless the gene is of particular interest or is a candidate gene involved in a human trait or disorder.
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