ArticleJournal of genetic counseling2007
What do patients prefer: informed consent models for genetic carrier testing.
Article in Journal of genetic counseling, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 51 citations in OpenAlex.
- Assessing clinical education tools for expanded carrier screening.Journal of genetic counseling · 2021Trial
- Trait anxiety, information modality, and responses to communications about prenatal genetic testing.Journal of behavioral medicine · 2014Trial
- Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death.Clinical genetics · 2026Article
- Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening.Molecular genetics & genomic medicine · 2023Article
- A cross-sectional survey of genetic counselors providing carrier screening regarding GBA variants and Parkinson disease susceptibility.Journal of assisted reproduction and genetics · 2022Article
- Should Clinicians Leave "Expanded" Carrier Screening Decisions to Patients?AMA journal of ethics · 2019Article
- Autonomy Challenges in Epigenetic Risk-Stratified Cancer Screening: How Can Patient Decision Aids Support Informed Consent?Journal of personalized medicine · 2019Review
- Experiences among Women with Positive Prenatal Expanded Carrier Screening Results.Journal of genetic counseling · 2017Article
- Swedish healthcare providers' perceptions of preconception expanded carrier screening (ECS)-a qualitative study.Journal of community genetics · 2016Article
- Expanded genetic screening panel for the Ashkenazi Jewish population.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Comparison of Informed Consent Preferences for Multiplex Genetic Carrier Screening among a Diverse Population.Journal of genetic counseling · 2016Article
- Pre- and post-test genetic counseling for chromosomal and Mendelian disorders.Seminars in perinatology · 2016Review
- An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders.European journal of human genetics : EJHG · 2015Article
- Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- Understanding patient and provider perceptions and expectations of genomic medicine.Journal of surgical oncology · 2015Review
- The changing landscape of carrier screening: expanding technology and options?.Health matrix (Cleveland, Ohio : 1991) · 2013Article
- Carrier screening in preconception consultation in primary care.Journal of community genetics · 2012Article
- Rapid aneuploidy detection or karyotyping? Ethical reflection.European journal of human genetics : EJHG · 2011Article
- Carrier screening for beta-thalassaemia: a review of international practice.European journal of human genetics : EJHG · 2010Review
- Medical ethics for the genome world: a paper from the 2007 William Beaumont hospital symposium on molecular pathology.The Journal of molecular diagnostics : JMD · 2008Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The recent increased number of conditions for which patients can undergo genetic carrier testing raises the question of how best to obtain pre-test informed consent. Clinical approaches vary from a minimalist model to a model where patients are given detailed information about all conditions to be screened for. Few data exist as to patient preferences, or how information impacts decision-making. Eight high-literacy focus groups were conducted to assess the knowledge and preferences of pregnant patients and their male partners. Most groups indicated that some balance between details and brevity was optimal, recognizing that anxiety can occur when patients are provided with too much information and that the wide range of tests offered during pregnancy often led to confusion. Critical areas for the informed consent process included (1) details about the conditions and risk of being a carrier, (2) logistics of testing, (3) next steps if the test is positive, and (4) prognosis, options and resources if the child were to be affected with a disorder. It will be useful to develop model consent programs and prospectively assess their impact on informed consent and patient satisfaction, both when positive and negative results are received.
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What OpenQuestion holds
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.