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1.  Public Health Approaches and Barriers to Educating Providers about Hereditary Breast and Ovarian Cancer Syndrome 
Healthcare  2016;4(1):19.
The Michigan Department of Health and Human Services implemented and evaluated two initiatives designed to enhance provider knowledge of patients appropriate for breast and/or ovarian cancer genetic risk assessment and hereditary breast and ovarian cancer (HBOC) syndrome testing. The first initiative targeted select providers who had diagnosed patients meeting HBOC risk criteria. Specifically, the initiative used 2008–2009 state cancer registry data to identify all providers who had diagnosed breast cancers in women ≤50 years of age, male breast cancers, and ovarian cancers in four health systems with newly established cancer genetics clinics. Using a method coined bidirectional reporting (BDR), reports highlighting how many of these cases each provider had seen were generated and mailed. Reports on 475 cancers (9.5% of the 5005 cases statewide meeting criteria) were sent to 69 providers with information about how and why to refer such patients for genetic counseling. Providers who received a report were contacted to assess whether the reports increased awareness or resulted in action (genetic counseling/referral). Based on the few responses received, despite multiple attempts to contact, and attrition rate, it is not possible to ascertain the impact of this initiative on providers. However the project resulted in the MDHHS identifying which providers see the largest proportion of at-risk patients, creating an opportunity to target those providers with HBOC education efforts. The second initiative involved creating and broadly disseminating an online, interactive case-based educational module to increase awareness and referral decisions for HBOC using high- and low-risk patient scenarios. A total of 1835 unique users accessed the module in a one year. Collectively the users viewed topic pages 2724 times and the interactive case studies 1369 times. Point of care tools (fact sheets) were viewed 1624 times and downloaded 764 times. Satisfaction among the subset of users applying for continuing medical education credit was high. The online educational module had a much broader reach than the bidirectional reporting initiative but to a self-selected audience. Combining targeted and broad-based provider education efforts may be a better way to increase HBOC awareness in the target audience, starting with those providers seeing the largest proportion of patients at risk.
doi:10.3390/healthcare4010019
PMCID: PMC4934553  PMID: 27417607
hereditary breast and ovarian cancer syndrome (HBOC); public health initiative; genetic counseling; provider education
2.  Neuroradiologic correlates of clinical disability and progression in the X-Linked leukodystrophy Pelizaeus–Merzbacher disease 
Objective
To determine whether quantitative measure of magnetic resonance imaging data from patients with the inherited leukodystrophy, Pelizaeus–Merzbacher disease (PMD) correlates with clinical severity or progression.
Methods
In our current work we have analyzed the clinical phenotypes and MRI scans of 51 male patients with PMD and 10 female carriers for whom the PLP1 genotype had been determined. In addition, we developed a 32-point functional disability scoring (FDS) system for PMD, and validated it for inter-rater reliability. Using conventional T1- and T2-weighted MRI images of the whole brain, we measured white matter and total brain volume (WMV and TBV), inter-caudate ratio (ICR), and corpus callosum area.
Results
There was a significant positive correlation of FDS with white matter fraction (WMV/TBV) and corpus callosum area. Also, when applying a median split based on FDS, patients with lower FDS showed reduced white matter fraction and corpus callosum area, and increased ICR compared to patients with relatively higher FDS, regardless of age.
Conclusion
Although this patient population is heterogeneous, with multiple genetic and molecular mechanisms causing PMD, these data imply that white matter atrophy is a major pathological determinant of the clinical disability in most patients. Development of reliable non-invasive quantitative biomarkers of disease activity would be useful not only for following the natural history of the disease, but also raising the potential for evaluating future therapies.
doi:10.1016/j.jns.2013.08.030
PMCID: PMC3969727  PMID: 24139698
Proteolipid protein; Pelizaeus–Merzbacher disease; Magnetic resonance imaging; White matter atrophy; Clinical disability; Genetics
3.  Evaluation of State Comprehensive Cancer Control Plans for Genomics Content 
Introduction
Comprehensive Cancer Control (CCC) plans address cancer burden at the state level through consolidation of activities and collaboration among stakeholders. Public health genomics strategies are increasingly important in prevention and treatment of cancer. The objectives of this study were to assess the extent to which CCC plans have incorporated genomics-related terms since 2005, determine which of the 3 core public health functions were fulfilled by genomics components, and identify facilitators of and barriers to integration of genomics.
Methods
We reviewed 50 CCC plans in 2010 to assess use of 22 genomics-related terms. Among plans that used the term genetics or genomics, we examined the plan for inclusion of genomics-related goals, objectives, or strategies and documented the 3 core public health functions (assessment, policy development, and assurance) fulfilled by them. We surveyed plan coordinators about factors affecting incorporation of genomic strategies into plans.
Results
Forty-seven of 50 (94%) plans included at least 1 genomics-related term. Thirty-two of 50 (64%) plans included at least 1 genomics-related goal, objective, or strategy, most encompassing the core function of assurance; 6 state plans encompassed all 3 core functions. Plan coordinators indicated that genomics is a low priority in state public health; barriers to incorporation included lack of sufficient staff and funding.
Conclusion
Incorporation of genomic terms into state CCC plans increased from 60% in 2005 to 94% in 2010, but according to plan coordinators, genomics has not grown as a priority. Identification of partnerships and resources may help increase the priority, encourage incorporation, and guide the eventual success of public health genomics in state plans. Strong partnerships with state public health departments, health care providers, and the research community are useful for integration.
doi:10.5888/pcd9.120190
PMCID: PMC3528305  PMID: 23256909
4.  The Scientific Foundation for Personal Genomics: Recommendations from a National Institutes of Health–Centers for Disease Control and Prevention Multidisciplinary Workshop 
The increasing availability of personal genomic tests has led to discussions about the validity and utility of such tests and the balance of benefits and harms. A multidisciplinary workshop was convened by the National Institutes of Health and the Centers for Disease Control and Prevention to review the scientific foundation for using personal genomics in risk assessment and disease prevention and to develop recommendations for targeted research. The clinical validity and utility of personal genomics is a moving target with rapidly developing discoveries but little translation research to close the gap between discoveries and health impact. Workshop participants made recommendations in five domains: (1) developing and applying scientific standards for assessing personal genomic tests; (2) developing and applying a multidisciplinary research agenda, including observational studies and clinical trials to fill knowledge gaps in clinical validity and utility; (3) enhancing credible knowledge synthesis and information dissemination to clinicians and consumers; (4) linking scientific findings to evidence-based recommendations for use of personal genomics; and (5) assessing how the concept of personal utility can affect health benefits, costs, and risks by developing appropriate metrics for evaluation. To fulfill the promise of personal genomics, a rigorous multidisciplinary research agenda is needed.
doi:10.1097/GIM.0b013e3181b13a6c
PMCID: PMC2936269  PMID: 19617843
behavioral sciences; epidemiologic methods; evidence-based medicine; genetics; genetic testing; genomics; medicine; public health

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