ArticleGenome medicine2017
Lost in translation: returning germline genetic results in genome-scale cancer research.
Article in Genome medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed, 83 citations in OpenAlex.
- Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.Cancers · 2023Review
- Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.Molecular medicine (Cambridge, Mass.) · 2023Article
- Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria.Scientific reports · 2022Article
- Artificial Intelligence and Early Detection of Pancreatic Cancer: 2020 Summative Review.Pancreas · 2021Review
- Implementing Systematic Genetic Counseling and Multigene Germline Testing for Individuals With Pancreatic Cancer.JCO oncology practice · 2021Article
- Perspectives regarding family disclosure of genetic research results in three racial and ethnic minority populations.Journal of community genetics · 2020Article
- Discovery through clinical sequencing in oncology.Nature cancer · 2020Review
- Molecular Targeting of a BRAF Mutation in Pancreatic Ductal Adenocarcinoma: Case Report and Literature Review.Targeted oncology · 2020Review
- MCL-1 antagonism enhances the anti-invasive effects of dasatinib in pancreatic adenocarcinoma.Oncogene · 2020Article
- Genetic counselling and personalised risk assessment in the Australian pancreatic cancer screening program.Hereditary cancer in clinical practice · 2019Article
- Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.Genome medicine · 2018Article
- The emerging clinical relevance of genomics in cancer medicine.Nature reviews. Clinical oncology · 2018Review
- Advances in Molecular Profiling and Categorisation of Pancreatic Adenocarcinoma and the Implications for Therapy.Cancers · 2018Review
- Returning Individual Genetic Research Results to Research Participants: Uptake and Outcomes Among Patients With Breast Cancer.JCO precision oncology · 2018Article
- Should Researchers Offer Results to Family Members of Cancer Biobank Participants? A Mixed-Methods Study of Proband and Family Preferences.AJOB empirical bioethicsArticle
Corrections and comments
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Authors and funding
27 authors at 9 institutions in 3 countries.
Funding
Abstract
backgroundThe return of research results (RoR) remains a complex and well-debated issue. Despite the debate, actual data related to the experience of giving individual results back, and the impact these results may have on clinical care and health outcomes, is sorely lacking. Through the work of the Australian Pancreatic Cancer Genome Initiative (APGI) we: (1) delineate the pathway back to the patient where actionable research data were identified; and (2) report the clinical utilisation of individual results returned. Using this experience, we discuss barriers and opportunities associated with a comprehensive process of RoR in large-scale genomic research that may be useful for others developing their own policies.
methodsWe performed whole-genome (n = 184) and exome (n = 208) sequencing of matched tumour-normal DNA pairs from 392 patients with sporadic pancreatic cancer (PC) as part of the APGI. We identified pathogenic germline mutations in candidate genes (n = 130) with established predisposition to PC or medium-high penetrance genes with well-defined cancer associated syndromes or phenotypes. Variants from candidate genes were annotated and classified according to international guidelines. Variants were considered actionable if clinical utility was established, with regard to prevention, diagnosis, prognostication and/or therapy.
resultsA total of 48,904 germline variants were identified, with 2356 unique variants undergoing annotation and in silico classification. Twenty cases were deemed actionable and were returned via previously described RoR framework, representing an actionable finding rate of 5.1%. Overall, 1.78% of our cohort experienced clinical benefit from RoR.
conclusionReturning research results within the context of large-scale genomics research is a labour-intensive, highly variable, complex operation. Results that warrant action are not infrequent, but the prevalence of those who experience a clinical difference as a result of returning individual results is currently low.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.