6 research outputs found
Cost-Effectiveness of Risk-Stratified Colorectal Cancer Screening Based on Polygenic Risk: Current Status and Future Potential
Background: Although uniform colonoscopy screening reduces colorectal cancer (CRC) mortality, risk-based screening may
be more efficient. We investigated whether CRC screening based on polygenic risk is a cost-effective alternative to current
uniform screening, and if not, under what conditions it would be.
Methods: The MISCAN-Colon model was used to simulate a hypothetical cohort of US 40-year-olds. Uniform
screening was modeled as colonoscopy screening at ages 50, 60, and 70 years. For risk-stratified screening, individuals
underwent polygenic testing with current and potential future discriminatory performance (area under the receiveroperating curve [AUC] of 0.60 and 0.65–0.80, respectively). Polygenic testing results were used to create risk groups, for
which colonoscopy screening was optimized by varying the start age (40–60 years), en
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations
The Clinical Sequencing Evidence-Generating Research (CSER) consortium, now in its second funding cycle, is investigating the effectiveness of integrating genomic (exome or genome) sequencing into the clinical care of diverse and medically underserved individuals in a variety of healthcare settings and disease states. The consortium comprises a coordinating center, six funded extramural clinical projects, and an ongoing National Human Genome Research Institute (NHGRI) intramural project. Collectively, these projects aim to enroll and sequence over 6,100 participants in four years. At least 60% of participants will be of non-European ancestry or from underserved settings, with the goal of diversifying the populations that are providing an evidence base for genomic medicine. Five of the six clinical projects are enrolling pediatric patients with various phenotypes. One of these five projects is also enrolling couples whose fetus has a structural anomaly, and the sixth project is enrolling adults at risk for hereditary cancer. The ongoing NHGRI intramural project has enrolled primarily healthy adults. Goals of the consortium include assessing the clinical utility of genomic sequencing, exploring medical follow up and cascade testing of relatives, and evaluating patient-provider-laboratory level interactions that influence the use of this technology. The findings from the CSER consortium will offer patients, healthcare systems, and policymakers a clearer understanding of the opportunities and challenges of providing genomic medicine in diverse populations and settings, and contribute evidence toward developing best practices for the delivery of clinically useful and cost-effective genomic sequencing in diverse healthcare settings
Supplementary Material for: Online Education and e-Consent for GeneScreen, a Preventive Genomic Screening Study
<p><b><i>Background:</i></b> Online study recruitment is increasingly
popular, but we know little about the decision making that goes into
joining studies in this manner. In GeneScreen, a genomic screening study
that utilized online education and consent, we investigated
participants' perceived ease when deciding to join and their
understanding of key study features. <b><i>Methods:</i></b> Individuals
were recruited via mailings that directed them to a website where they
could learn more about GeneScreen, consent to participate, and complete a
survey. <b><i>Results:</i></b> Participants found it easy to decide to
join GeneScreen and had a good understanding of study features. Multiple
regression analyses revealed that ease of deciding to join was related
to confidence in one's genetic self-efficacy, limited concerns about
genetic screening, trust in and lack of frustration using the website,
and the ability to spend a limited time on the website. Understanding of
study features was related to using the Internet more frequently and
attaining more information about GeneScreen conditions. <b><i>Conclusions:</i></b>
The ease of deciding to join a genomic screening study and
comprehension of its key features should be treated as different
phenomena in research and practice. There is a need for a more nuanced
understanding of how individuals respond to web-based consent
information.</p