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  • 1
    In: Health Affairs, Health Affairs (Project Hope), Vol. 37, No. 5 ( 2018-05), p. 801-808
    Type of Medium: Online Resource
    ISSN: 0278-2715 , 1544-5208
    Language: English
    Publisher: Health Affairs (Project Hope)
    Publication Date: 2018
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  • 2
    In: Pharmacogenomics, Future Medicine Ltd, Vol. 22, No. 11 ( 2021-07), p. 681-691
    Abstract: Several healthcare organizations across Minnesota have developed formal pharmacogenomic (PGx) clinical programs to increase drug safety and effectiveness. Healthcare professional and student education is strong and there are multiple opportunities in the state for learners to gain workforce skills and develop advanced competency in PGx. Implementation planning is occurring at several organizations and others have incorporated structured utilization of PGx into routine workflows. Laboratory-based and translational PGx research in Minnesota has driven important discoveries in several therapeutic areas. This article reviews the state of PGx activities in Minnesota including educational programs, research, national consortia involvement, technology, clinical implementation and utilization and reimbursement, and outlines the challenges and opportunities in equitable implementation of these advances.
    Type of Medium: Online Resource
    ISSN: 1462-2416 , 1744-8042
    Language: English
    Publisher: Future Medicine Ltd
    Publication Date: 2021
    SSG: 15,3
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  • 3
    In: BMJ Open, BMJ, Vol. 14, No. 4 ( 2024-04), p. e085472-
    Abstract: In over 50 years since the genetic counseling (GC) profession began, a systematic study of GC communication skills and patient-reported outcomes in actual sessions across multiple clinical specialties has never been conducted. To optimize GC quality and improve efficiency of care, the field must first be able to comprehensively measure GC skills and determine which skills are most critical to achieving positive patient experiences and outcomes. This study aims to characterise GC communication skills using a novel and pragmatic measure and link variations in communication skills to patient-reported outcomes, across clinical specialties and with patients from diverse backgrounds in the USA. Our community-engagement and provider-engagement approach is crucial to develop recommendations for quality, culturally informed GC care, which are greatly needed to improve GC practice. Methods and analysis A mixed methods, sequential explanatory design will be used to collect and analyze: audio-recorded GC sessions in cancer, cardiac, and prenatal/reproductive genetic indications; pre-visit and post-visit quantitative surveys capturing patient experiences and outcomes and post-visit qualitative interview data. A novel, practical checklist will measure GC communication skills. Coincidence analysis will identify patterns of GC skills that are consistent with high scores on patient-reported measures. Two-level, multilevel models will be used to evaluate how GC communication skills and other session/patient characteristics predict patient-reported outcomes. Four community advisory boards (CABs) and a genetic counselor advisory board will inform the study design and analysis. Ethics and dissemination This study has been approved by the single Institutional Review Board of the University of Minnesota. This research poses no greater than minimal risk to participants. Results from this study will be shared through national and international conferences and through community-based dissemination as guided by the study’s CABs. A lay summary will also be disseminated to all participants.
    Type of Medium: Online Resource
    ISSN: 2044-6055 , 2044-6055
    Language: English
    Publisher: BMJ
    Publication Date: 2024
    detail.hit.zdb_id: 2599832-8
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  • 4
    In: American Journal of Medical Genetics Part A, Wiley, Vol. 179, No. 7 ( 2019-07), p. 1205-1213
    Abstract: Minnesota became the fourth state to begin newborn screening (NBS) for X‐linked adrenoleukodystrophy (X‐ALD) in 2017. As there is limited retrospective data available on NBS for X‐ALD, we analyzed Minnesota's NBS results from the first year of screening. C26:0 lysophosphatidylcholine (C26:0‐LPC) screening results of 67,836 infants and confirmatory testing ( ABCD1 gene and serum VLCFA analysis) for screen positives were obtained. Fourteen infants (nine males, five females) screened positive for X‐ALD and all were subsequently confirmed to have X‐ALD, with zero false positives. The birth prevalence of X‐ALD in screened infants was 1 in 4,845 and 1 in 3,878 males, more than five times previous reported incidences. Pedigrees of affected infants were analyzed, and 17 male (mean age of 17) and 24 female relatives were subsequently diagnosed with X‐ALD. Phenotypes of these family members included self‐reported mild neuropathy symptoms in two males and seven females, and childhood cerebral disease (ccALD) and adrenal insufficiency in one male. We observed fewer cases of ccALD and adrenal insufficiency than expected in male family members (5.9% of males for both) compared to previous observations. Together, these findings suggest that the spectrum of X‐ALD may be broader than previously described and that milder cases may previously have been underrepresented. Other challenges included a high frequency of variants of uncertain significance in ABCD1 and an inability to predict phenotypic severity. We posit that thoughtful planning to address these novel challenges and coordination by dedicated specialists will be imperative for successful implementation of population‐based screening for X‐ALD.
    Type of Medium: Online Resource
    ISSN: 1552-4825 , 1552-4833
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2019
    detail.hit.zdb_id: 1493479-6
    SSG: 12
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  • 5
    Online Resource
    Online Resource
    Wiley ; 2016
    In:  Journal of Genetic Counseling Vol. 25, No. 5 ( 2016-10), p. 993-1001
    In: Journal of Genetic Counseling, Wiley, Vol. 25, No. 5 ( 2016-10), p. 993-1001
    Abstract: Outcomes in the field of genetic counseling have not been well‐defined or categorized, despite pressures to provide evidence‐based measures in all areas of healthcare. This study describes a process to elucidate and categorize a wide‐ranging set of outcomes as characterized by diverse groups of practicing genetic counselors. Semi‐structured focus groups were conducted at the National Society of Genetic Counselors 2013 NSGC Annual Education Conference during an educational breakout session. A general inductive qualitative research approach was utilized to code focus group notes, categorize them into themes, and compare them across specialty groups. A total of 107 individuals participated in 14 focus groups, consisting of specialists in cancer ( n = 20), general genetics ( n = 40), prenatal genetics ( n = 11), and “other” ( n = 36). Of the twelve genetic counseling outcomes themes identified, the most common across focus groups included: 1) appropriateness of testing and accuracy of results interpretation; 2) psychosocial outcomes; 3) adherence to or receipt of appropriate medical management; and 4) patient and provider knowledge. Data assessed by specialty demonstrated similarities in outcomes themes, suggesting that a common set of genetic counseling outcomes would likely be appropriate to cover the majority of needs for the profession. Results can serve as a platform from which to build a more well‐defined and comprehensive set of outcomes.
    Type of Medium: Online Resource
    ISSN: 1059-7700 , 1573-3599
    Language: English
    Publisher: Wiley
    Publication Date: 2016
    detail.hit.zdb_id: 2016899-8
    SSG: 12
    SSG: 5,2
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  • 6
    Online Resource
    Online Resource
    Wiley ; 2017
    In:  Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy Vol. 37, No. 9 ( 2017-09), p. 990-999
    In: Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, Wiley, Vol. 37, No. 9 ( 2017-09), p. 990-999
    Abstract: Increased use of pharmacogenomic ( PG x) testing in the clinical setting has revealed a number of challenges to providing this service. PG x is an important component of precision medicine that brings together the fields of genetics and clinical pharmacology. A model that incorporates a multidisciplinary approach to implementation and information delivery may be the most beneficial to patients and providers. In this review, translational considerations in the provision of PG x testing and counseling services are described. Specifically, we report on the selection of PG x tests, the provision of patient education and counseling, and examples of PG x service delivery models that incorporate counseling by pharmacists and genetic counselors. Examples of ancillary risks associated with PG x testing, testing of children, and familial implications of testing are reviewed. Through multispecialty partnerships, including genetic counselors and pharmacists, implementation obstacles to PG x testing can be overcome to provide quality precision medicine to patients.
    Type of Medium: Online Resource
    ISSN: 0277-0008 , 1875-9114
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2017
    detail.hit.zdb_id: 2061167-5
    SSG: 15,3
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  • 7
    Online Resource
    Online Resource
    Wiley ; 2021
    In:  Journal of Genetic Counseling Vol. 30, No. 4 ( 2021-08), p. 999-1009
    In: Journal of Genetic Counseling, Wiley, Vol. 30, No. 4 ( 2021-08), p. 999-1009
    Abstract: While genetic counselor (GC) utilization of telehealth has increased in recent years, the onset of the COVID‐19 pandemic significantly accelerated the adoption of telehealth for many. We investigated GC experiences with telehealth including perceived advantages, disadvantages, and barriers using a one‐time online survey of GCs who provided direct patient care in recent years. The survey examined experiences with telehealth before and after the onset of COVID‐19. We made broad comparisons to findings from a similar study our research team conducted five years ago. GCs reported an increase in the utilization of telehealth over time, with significant increases from pre‐2017 (44%) to pre‐COVID‐19 (70%) and then to present (87%) ( p 〈 .001 and .02, respectively). There was no significant change in the total number of hours worked from pre‐COVID‐19 to the time of survey completion, nor were there significant changes in the amount of time spent on clinical responsibilities or interfacing with patients. However, the total number of hours worked in telehealth significantly increased (z = 5.05, p 〈 .001) as did the percent of time spent interacting with patients via telehealth [t(72)=3.74, p 〈 .001, d = 0.44]. Participants overwhelmingly preferred video (84%) over telephone; this differs from our previous survey where video was the preferred modality for 59% ( p 〈 .001). We utilized open‐ended questions to elicit reasons for modality preference. The most‐cited barrier to telehealth utilization was billing/reimbursement issues, with 39% noting this obstacle. This is consistent with our previous study where 30% cited billing/reimbursement as the primary barrier. These findings indicate a need for continued efforts to improve billing and reimbursement for genetic counseling offered via telehealth. They also present an opportunity for additional exploration regarding patient preferences for telehealth modality.
    Type of Medium: Online Resource
    ISSN: 1059-7700 , 1573-3599
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 2016899-8
    SSG: 12
    SSG: 5,2
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  • 8
    Online Resource
    Online Resource
    American Association for Cancer Research (AACR) ; 2011
    In:  Cancer Research Vol. 71, No. 8_Supplement ( 2011-04-15), p. 873-873
    In: Cancer Research, American Association for Cancer Research (AACR), Vol. 71, No. 8_Supplement ( 2011-04-15), p. 873-873
    Abstract: Major and minor congenital anomalies are found more often in children with cancer than in those without. Rib abnormalities (RAs) are common anomalies which have been associated with childhood cancer in three studies; however the studies differed in the specific type of RAs (abnormal rib number or cervical ribs) implicated. This study sought to clarify the literature using the clinical population of the University of Minnesota. Methods: RAs were assessed in a hospital based case-control study. Cases consisted of cancer patients aged 0-19 years old treated at the University of Minnesota during 2003-2009. Controls were randomly selected pediatric patients who received a chest X-ray at a community hospital during 2003-2008. Data collected from medical records were sex, ethnicity, date of birth, date of radiograph, indication for chest radiograph, and ZIP code of residence. Cancer type and date of diagnosis was also collected for cases. Two radiologists oversaw one radiology resident's evaluation of rib number, cervical, bifid, and post-surgical rib anomalies, predominantly by X-ray. Pearson's Chi-square test was used to assess categorical data differences between cases and controls. Dichotomous variables were created for normal (24) or abnormal ( & gt;24, & lt;24) rib number and cervical ribs. Logistic regression was used to calculate the odds ratios and 95% CI adjusting for age and sex. All statistical analyses were performed using SAS® 9.2. Results: Images were available for 76.5% (478/625) of cases and 93.2% (1398/1499 = 93.2%) of controls. Of the available images, 96.0% (459/478) and 81.2% (1135/1398) were evaluable. There were significant differences between childhood cancer cases and controls for age at imaging (cases =5.57 years, controls = 9.45 years, p & lt;0.0001), residence within the state of Minnesota (controls = 97.9% and cases = 67.4% were residents, p & lt;0.0001). Gender was not significantly different (cases = 56.4% male, controls =59.7%, p=0.23). Data on ethnicity was missing in over 20% of controls and 50% of cases and was not included in the analysis. There was a significant difference in the number of abnormal ribs in cases versus controls after controlling for age and sex (OR = 1.66 (95%CI 1.00, 2.74), p=0.05). The presence of cervical ribs was not significantly associated with overall childhood cancer (p-value = 0.38). Collectively renal tumors had a significantly increased number of abnormal ribs (OR = 4.15 (95%CI 1.17, 14.80) p-value = 0.03). Conclusions: The results of this study support previous reports that there is an association of RAs with childhood cancer. Children with renal malignancies had a significantly higher prevalence of RAs. There was no association between childhood cancer and cervical ribs. Further research is warranted to investigate the significance of the association of RAs and childhood cancer. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 102nd Annual Meeting of the American Association for Cancer Research; 2011 Apr 2-6; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2011;71(8 Suppl):Abstract nr 873. doi:10.1158/1538-7445.AM2011-873
    Type of Medium: Online Resource
    ISSN: 0008-5472 , 1538-7445
    RVK:
    RVK:
    Language: English
    Publisher: American Association for Cancer Research (AACR)
    Publication Date: 2011
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    detail.hit.zdb_id: 1432-1
    detail.hit.zdb_id: 410466-3
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  • 9
    In: Journal of Genetic Counseling, Wiley, Vol. 29, No. 2 ( 2020-04), p. 147-165
    Type of Medium: Online Resource
    ISSN: 1059-7700 , 1573-3599
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 2016899-8
    SSG: 12
    SSG: 5,2
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  • 10
    Online Resource
    Online Resource
    Wiley ; 2021
    In:  Journal of Genetic Counseling Vol. 30, No. 1 ( 2021-02), p. 144-157
    In: Journal of Genetic Counseling, Wiley, Vol. 30, No. 1 ( 2021-02), p. 144-157
    Type of Medium: Online Resource
    ISSN: 1059-7700 , 1573-3599
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 2016899-8
    SSG: 12
    SSG: 5,2
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