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- Antoniou, A. C., et al.
(författare)
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Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : Implications for risk prediction
- 2010
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Ingår i: Cancer Research. - : American Association for Cancer Research. - 0008-5472 .- 1538-7445. ; 70:23, s. 9742-9754
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Tidskriftsartikel (refereegranskat)abstract
- The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR = 1.10, 95% CI: 1.03-1.18, P = 0.006 and HR = 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P = 7 × 10-11 - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42% to 50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences might be sufficient to influence the clinical management of mutation carriers.
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| 2. |
- Saunders, C. H., et al.
(författare)
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Practical thematic analysis : a guide for multidisciplinary health services research teams engaging in qualitative analysis
- 2023
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Ingår i: BMJ. British Medical Journal. - : BMJ Publishing Group Ltd. - 0959-8146 .- 0959-535X.
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Tidskriftsartikel (refereegranskat)abstract
- Qualitative research methods explore and provide deep contextual understanding of real world issues, including people's beliefs, perspectives, and experiences. Whether through analysis of interviews, focus groups, structured observation, or multimedia data, qualitative methods offer unique insights in applied health services research that other approaches cannot deliver. However, many clinicians and researchers hesitate to use these methods, or might not use them effectively, which can leave relevant areas of inquiry inadequately explored. Thematic analysis is one of the most common and flexible methods to examine qualitative data collected in health services research. This article offers practical thematic analysis as a step-by-step approach to qualitative analysis for health services researchers, with a focus on accessibility for patients, care partners, clinicians, and others new to thematic analysis. Along with detailed instructions covering three steps of reading, coding, and theming, the article includes additional novel and practical guidance on how to draft effective codes, conduct a thematic analysis session, and develop meaningful themes. This approach aims to improve consistency and rigor in thematic analysis, while also making this method more accessible for multidisciplinary research teams.
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| 3. |
- Van Citters, Aricca D., et al.
(författare)
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Prioritizing Measures That Matter Within a Person-Centered Oncology Learning Health System
- 2022
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Ingår i: JNCI Cancer Spectrum. - : Oxford University Press. - 2515-5091. ; 6:3
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundDespite progress in developing learning health systems (LHS) and associated metrics of success, a gap remains in identifying measures to guide the implementation and assessment of the impact of an oncology LHS. Our aim was to identify a balanced set of measures to guide a person-centered oncology LHS.MethodsA modified Delphi process and clinical value compass framework were used to prioritize measures for tracking LHS performance. A multidisciplinary group of 77 stakeholders, including people with cancer and family members, participated in 3 rounds of online voting followed by 50-minute discussions. Participants rated metrics on perceived importance to the LHS and discussed priorities.ResultsVoting was completed by 94% of participants and prioritized 22 measures within 8 domains. Patient and caregiver factors included clinical health (Eastern Cooperative Oncology Group Performance Status, survival by cancer type and stage), functional health and quality of life (Patient Reported Outcomes Measurement Information System [PROMIS] Global-10, Distress Thermometer, Modified Caregiver Strain Index), experience of care (advance care planning, collaboRATE, PROMIS Self-Efficacy Scale, access to care, experience of care, end-of-life quality measures), and cost and resource use (avoidance and delay in accessing care and medications, financial hardship, total cost of care). Contextual factors included team well-being (Well-being Index; voluntary staff turnover); learning culture (Improvement Readiness, compliance with Commission on Cancer quality of care measures); scholarly engagement and productivity (institutional commitment and support for research, academic productivity index); and diversity, equity, inclusion, and belonging (screening and follow-up for social determinants of health, inclusivity of staff and patients).ConclusionsThe person-centered LHS value compass provides a balanced set of measures that oncology practices can use to monitor and evaluate improvement across multiple domains.
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| 4. |
- Oliver, Brant J., et al.
(författare)
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A Hybrid Markov-SPC Approach to Assess Cost Differences in Urgent Care Utilization Using Patient-Reported Data in Inflammatory Bowel Disease
- 2024
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Ingår i: The Permanente Journal. - : The Permanente Federation. - 1552-5767 .- 1552-5775. ; 28:3, s. 234-244
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundCost is a key outcome in quality and value, but it is often difficult to estimate reliably and efficiently for use in real-time improvement efforts. We describe a method using patient-reported outcomes (PROs), Markov modeling, and statistical process control (SPC) analytics in a real-time cost-estimation prototype designed to assess cost differences between usual care and improvement conditions in a national multicenter improvement collaborative—the IBD Qorus Learning Health System (LHS).MethodsThe IBD Qorus Learning Health System (LHS) collects PRO data, including emergency department utilization and hospitalizations from patients prior to their clinical visits. This data is aggregated monthly at center and collaborative levels, visualized using Statistical Process Control (SPC) analytics, and used to inform improvement efforts. A Markov model was developed by Almario et al to estimate annualized per patient cost differences between usual care (baseline) and improvement (intervention) time periods and then replicated at monthly intervals. We then applied moving average SPC analyses to visualize monthly iterative cost estimations and assess the variation and statistical reliability of these estimates over time.ResultsWe have developed a real-time Markov-informed SPC visualization prototype which uses PRO data to analyze and monitor monthly annualized per patient cost savings estimations over time for the IBD Qorus LHS. Validation of this prototype using claims data is currently underway.ConclusionThis new approach using PRO data and hybrid Markov–SPC analysis can analyze and visualize near real-time estimates of cost differences over time. Pending successful validation against a claims data standard, this approach could more comprehensively inform improvement, advocacy, and strategic planning efforts.
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