ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Systematic review of preferences for additional findings from genomic testing.European journal of human genetics : EJHG · 2026Pooled it
- Managing Secondary Findings from Germline Pharmacogenomic Testing.Journal of personalized medicine · 2026Article
- Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Public interest in unexpected genomic findings: a survey study identifying aspects of sequencing attitudes that influence preferences.Journal of community genetics · 2022Article
- Whether, when, how, and how much? General public's and cancer patients' views about the disclosure of genomic secondary findings.BMC medical genomics · 2021Article
- Views on genomic research result delivery methods and informed consent: a review.Personalized medicine · 2021Review
- Revisiting Secondary Information Related to Pharmacogenetic Testing.Frontiers in genetics · 2021Article
- Improving interpretation of genetic testing for hereditary hemorrhagic, thrombotic, and platelet disorders.Hematology. American Society of Hematology. Education Program · 2020Review
- Participant choices for return of genomic results in the eMERGE Network.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- The Impact of Incidental Findings Detected During Brain Imaging on Research Participants of the Rotterdam Study: An Interview Study.Cambridge quarterly of healthcare ethics : CQ : the international journal of healthcare ethics committees · 2020Article
- Educating military primary health-care providers in genomic medicine: lessons learned from the MilSeq Project.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Decisional conflict among adolescents and parents making decisions about genomic sequencing results.Clinical genetics · 2020Article
- Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment.Ontario health technology assessment series · 2020Article
- Clinical utility of genomic sequencing.Current opinion in pediatrics · 2019Review
- Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium.Personalized medicine · 2019Article
- Renal genetics in Australia: Kidney medicine in the genomic age.Nephrology (Carlton, Vic.) · 2019Review
- Genomic Contextualism: Shifting the Rhetoric of Genetic Exceptionalism.The American journal of bioethics : AJOB · 2019Article
- Genomic sequencing identifies secondary findings in a cohort of parent study participants.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Through Patients' Eyes: Regulation, Technology, Privacy, and the Future.Yearbook of medical informatics · 2018Article
- Genetic counselling in the era of genomic medicine.British medical bulletin · 2018Review
Corrections and comments
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Authors and funding
17 authors.
Funding
Abstract
purposeEliciting and understanding patient and research participant preferences regarding return of secondary test results are key aspects of genomic medicine. A valid instrument should be easily understood without extensive pretest counseling while still faithfully eliciting patients' preferences.
methodsWe conducted focus groups with 110 adults to understand patient perspectives on secondary genomic findings and the role that preferences should play. We then developed and refined a draft instrument and used it to elicit preferences from parents participating in a genomic sequencing study in children with intellectual disabilities.
resultsPatients preferred filtering of secondary genomic results to avoid information overload and to avoid learning what the future holds, among other reasons. Patients preferred to make autonomous choices about which categories of results to receive and to have their choices applied automatically before results are returned to them and their clinicians. The Preferences Instrument for Genomic Secondary Results (PIGSR) is designed to be completed by patients or research participants without assistance and to guide bioinformatic analysis of genomic raw data. Most participants wanted to receive all secondary results, but a significant minority indicated other preferences.
conclusionsOur novel instrument-PIGSR-should be useful in a wide variety of clinical and research settings.Genet Med 19 3, 337-344.
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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.