Publications by authors named "Kathleen Calzone"

72 Publications

Using a Genomics Taxonomy: Facilitating Patient Care Safety and Quality in the Era of Precision Oncology.

Clin J Oncol Nurs 2021 Apr;25(2):205-209

National Cancer Institute, National Institutes of Health.

Oncology nurses need to be competent in the ever-expanding application of genomics in cancer care, and understanding foundational terms is necessary. A landscape analysis of Oncology Nursing Society (ONS) materials, a literature review, and expert opinion revealed inconsistencies and varying use of genomic terms, some of which are outdated. In response, the ONS Genomics Taxonomy was built to address inaccuracies and discrepancies in terms and to be an accessible resource for oncology nurses. The taxonomy is a living document that is updated to reflect evolving science and evidence and serves to diminish confusion, improve genomic literacy, and assist oncology nurses in providing safe genomic care.
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April 2021

CDH1 variants leading to gastric cancer risk management decision-making experiences in emerging adults: 'I am not ready yet'.

J Genet Couns 2021 Mar 2. Epub 2021 Mar 2.

Genetic Counseling Program, Department of Human and Molecular Genetics, School of Medicine, Virginia Commonwealth University, Richmond, VA, USA.

Pathogenic/likely pathogenic variants (PLPV) in CDH1 are associated with a significantly increased lifetime risk for diffuse gastric cancer, with an average age of onset of 47 years. CDH1 PLPV carriers are recommended to have prophylactic total gastrectomy (PTG) or routine endoscopy surveillance. Emerging adults (EAs) may have unique circumstances that affect their medical management decision-making about PTG versus endoscopy. The study aim was to use qualitative interpretative phenomenological analysis method to understand the lived experience and medical management decision-making process for EAs carrying a CDH1 PLPV. Eligible participants were unaffected CDH1 PLPV carriers, ages 18 to 29, who had not undergone PTG and had discussed CDH1 medical management with a health provider. Semi-structured telephone interviews were transcribed verbatim and analyzed for major themes. Results show EAs wanted to avoid developing diffuse gastric cancer, but most do not feel they are ready for PTG. They had worries about PTG related to their identity exploration, financial stability, and careers. Most did not want to pass the PLPV to their children; however, the cost of preimplantation genetic testing with in vitro fertilization was a concern. Family medical history and self-understanding of endoscopy and PTG highly influenced medical management decision-making. Understanding of diffuse gastric cancer detection rate using endoscopy was inconsistent among participants. Body image was not a concern for most, but they worry about dietary restrictions after PTG. Lastly, connection to peers having the same experience was important. These findings increase our understanding of the medical management decision-making challenges for EA CDH1 carriers. EAs may take an extended time to decide what option is right for them. Thus, genetic counseling for CDH1 PLPV EA carriers requires long-term support and education.
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March 2021

Whole-exome sequencing reveals germline-mutated small cell lung cancer subtype with favorable response to DNA repair-targeted therapies.

Sci Transl Med 2021 Jan;13(578)

Developmental Therapeutics Branch, Center for Cancer Research, NCI, Bethesda, MD 20892, USA.

Because tobacco is a potent carcinogen, secondary causes of lung cancer are often diminished in perceived importance. To assess the extent of inherited susceptibility to small cell lung cancer (SCLC), the most lethal type of lung cancer, we sequenced germline exomes of 87 patients (77 SCLC and 10 extrapulmonary small cell) and considered 607 genes, discovering 42 deleterious variants in 35 cancer-predisposition genes among 43.7% of patients. These findings were validated in an independent cohort of 79 patients with SCLC. Loss of heterozygosity was observed in 3 of 14 (21.4%) tumors. Identification of variants influenced medical management and family member testing in nine (10.3%) patients. Unselected patients with SCLC were more likely to carry germline RAD51 paralog D (), checkpoint kinase 1 (), breast cancer 2 (), and mutY DNA glycosylase () pathogenic variants than healthy controls. Germline genotype was significantly associated with the likelihood of a first-degree relative with cancer or lung cancer (odds ratio: 1.82, = 0.008; and 2.60, = 0.028), and longer recurrence-free survival after platinum-based chemotherapy ( = 0.002), independent of known prognostic factors. Treatment of a patient with relapsed SCLC and germline pathogenic mutation of interacting protein C-terminal helicase 1 (), a homologous recombination-related gene, using agents synthetically lethal with homologous recombination deficiency, resulted in a notable disease response. This work demonstrates that SCLC, currently thought to result almost exclusively from tobacco exposure, may have an inherited predisposition and lays the groundwork for targeted therapies based on the genes involved.
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January 2021

Current status and future directions of U.S. genomic nursing health care policy.

Nurs Outlook 2021 Jan 21. Epub 2021 Jan 21.

Nursing Research and Performance Improvement, Cedars-Sinai Medical Center, Los Angeles, CA.

Background: As genomic science moves beyond government-academic collaborations into routine healthcare operations, nursing's holistic philosophy and evidence-based practice approach positions nurses as leaders to advance genomics and precision health care in routine patient care.

Purpose: To examine the status of and identify gaps for U.S. genomic nursing health care policy and precision health clinical practice implementation.

Methods: We conducted a scoping review and policy priorities analysis to clarify key genomic policy concepts and definitions, and to examine trends and utilization of health care quality benchmarking used in precision health.

Findings: Genomic nursing health care policy is an emerging area. Educating and training the nursing workforce to achieve full dissemination and integration of precision health into clinical practice remains an ongoing challenge. Use of health care quality measurement principles and federal benchmarking performance evaluation criteria for precision health implementation are not developed.

Discussion: Nine recommendations were formed with calls to action across nursing practice workforce and education, nursing research, and health care policy arenas.

Conclusions: To advance genomic nursing health care policy, it is imperative to develop genomic performance measurement tools for clinicians, purchasers, regulators and policymakers and to adequately prepare the nursing workforce.
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January 2021

A Maturity Matrix for Nurse Leaders to Facilitate and Benchmark Progress in Genomic Healthcare Policy, Infrastructure, Education, and Delivery.

J Nurs Scholarsh 2020 09 27;52(5):583-592. Epub 2020 Jun 27.

Senior Author, Emeritus Professor of Genetics Education, University of South Wales, Rhondda Cynon Taff, Pontypridd, Wales, UK.

Purpose: Nurse leaders driving strategic integration of genomics across nursing need tools and resources to evaluate their environment, guide strategies to address deficits, and benchmark progress. We describe the development and pilot testing of a self-assessment maturity matrix (MM) that enables users to benchmark the current state of nursing genomic competency and integration for their country or nursing group; guides the development of a strategic course for improvement and implementation; and assesses change over time.

Design: Mixed-methods participatory research and self-assessment.

Methods: During a 3-day workshop involving nursing experts in health care and genomics, a genomic integration MM grid was built by consensus using iterative participatory methods. Data were analyzed using descriptive techniques. This work built on an online survey involving the same participants to identify the critical elements needed for "effective nursing which promotes health outcomes globally through genomics."

Findings: Experts from 19 countries across six continents and seven organizations participated in item development. The Assessment of Strategic Integration of Genomics across Nursing (ASIGN) MM incorporates 55 outcome-focused items serving as subscales for six critical success factors (CSFs): education and workforce; effective nursing practice; infrastructure and resources; collaboration and communication; public/patient involvement; policy and leadership. Users select their current circumstances for each item against a 5-point ordinal scale (precontemplation to leading). Nurses representing 17 countries undertook matrix pilot testing. Results demonstrate variation across CSFs, with many countries at the earliest stages of implementation.

Conclusions: The MM has the potential to guide the strategic integration of genomics across nursing and enables additional assessments within and between countries to be made.

Clinical Relevance: Nurse leadership and direction are essential to accelerate integration of genomics across nursing practice and education. The MM helps nurse leaders to benchmark progress and guide strategic planning to build global genomic nursing capacity.
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September 2020

A Roadmap for Global Acceleration of Genomics Integration Across Nursing.

J Nurs Scholarsh 2020 05 17;52(3):329-338. Epub 2020 Apr 17.

Senior Author, Emeritus Professor of Genetics Education, University of South Wales, Pontypridd, Rhondda Cynon Taff, UK.

Purpose: The changes needed to accelerate integration of genomics across nursing are complex, with significant challenges faced globally. Common themes lend themselves to a coordinated and collaborative strategic approach to sustained change. We aim to synthesize the outputs of a research program to present a roadmap for nursing leadership to guide integration of genomics across practice.

Design: Mixed methods involving a purposive sample of global nursing leaders and nursing organizations in a sustained, highly interactive program.

Methods: Experts in nursing, health care and healthcare services, policy, and leadership were recruited. Online surveys preceded a 3-day residential meeting utilizing participatory methods and techniques to gain consensus on the essential elements of a roadmap to promote genomics integration.

Findings: Twenty-three leaders representing 19 countries and seven organizations participated overall. Data on the scope and status of nursing, genomics health care, and resources have been synthesized. Participants identified 117 facilitators to genomics integration across diverse sources. Barriers and priorities identified were mapped to the constructs of the Consolidated Framework for Implementation Research. The roadmap is underpinned by a maturity matrix created by participants to guide and benchmark progress in genomics integration.

Conclusions: Nurse leaders seeking to accelerate change can access practical guidance with the roadmap, underpinned by support through the Global Genomics Nursing Alliance and its strategic priorities.

Clinical Relevance: Genomics is shaping the future of healthcare, but change is needed for integration across nursing. This practical roadmap, adaptable to local health systems and clinical and educational contexts, is relevant to nurse leaders aiming to accelerate change.
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May 2020

Precision health: A nursing perspective.

Int J Nurs Sci 2020 Jan 24;7(1):5-12. Epub 2019 Dec 24.

Nursing Research and Development, Cedars-Sinai Medical Center, Los Angeles, USA.

Precision health refers to personalized healthcare based on a person's unique genetic, genomic, or omic composition within the context of lifestyle, social, economic, cultural and environmental influences to help individuals achieve well-being and optimal health. Precision health utilizes big data sets that combine omics (i.e. genomic sequence, protein, metabolite, and microbiome information) with clinical information and health outcomes to optimize disease diagnosis, treatment and prevention specific to each patient. Successful implementation of precision health requires interprofessional collaboration, community outreach efforts, and coordination of care, a mission that nurses are well-positioned to lead. Despite the surge of interest and attention to precision health, most nurses are not well-versed in precision health or its implications for the nursing profession. Based on a critical analysis of literature and expert opinions, this paper provides an overview of precision health and the importance of engaging the nursing profession for its implementation. Other topics reviewed in this paper include big data and omics, information science, integration of family health history in precision health, and nursing omics research in symptom science. The paper concludes with recommendations for nurse leaders in research, education, clinical practice, nursing administration and policy settings for which to develop strategic plans to implement precision health.
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January 2020

Establishing the Omics Nursing Science & Education Network.

J Nurs Scholarsh 2020 03 6;52(2):192-200. Epub 2020 Feb 6.

Theta-at-Large, Acting Director and Scientific Director, National Institutes of Health, National Institute of Nursing Research, Office of the Director (retired), Bethesda, MD, USA.

Purpose: To establish a website to advance nursing research and education involving omics technologies and methodologies through facilitating collaborations, use of existing data and samples, mentoring, and access to training opportunities.

Methods: The Omics Nursing Science & Education Network (ONSEN) website was established following identification of gaps in omics nursing infrastructure and resources that could be addressed via a concerted, collaborative effort. ONSEN content was created using input from a workgroup of experts in genomics and other omics, education, practice, and nursing research. Alpha testing was conducted with workgroup members, followed by website refinements and enhancements, and subsequent beta testing by potential end users. ONSEN was launched in August 2018.

Findings: ONSEN has three main sections. The Education and Training section provides information on mentoring and pre- or postdoctoral opportunities in addition to a knowledge matrix to advance education and skills in genomic nursing science. The Research Collaborations section promotes awareness of ongoing omics nursing research in order to foster collaborations and sharing of samples or data among investigators with programs in omics nursing research or an interest in developing such programs. The Common Data Elements (CDE) section provides information on the benefits of incorporating CDEs into nursing science as well as links to National Institutes of Health resources to facilitate use of CDEs.

Conclusions: ONSEN provides opportunities for nurse scientists and trainees to leverage samples and datasets, locate mentors and pre- or postdoctoral positions, further the use of CDEs, and enhance education and skills for integrating omics into nursing science.

Clinical Relevance: Advancing omics nursing science via ONSEN resources will accelerate the elucidation of the molecular underpinnings of disease and associated symptoms as well as inform the development of rapidly translatable, personalized intervention strategies, grounded in biological mechanisms, for improved health outcomes across populations and the lifespan.
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March 2020

Validity evaluation of the genetics and genomics in nursing practice survey.

Nurs Open 2019 Oct 13;6(4):1404-1413. Epub 2019 Aug 13.

Center for Cancer Research National Institutes of Health, National Cancer Institute Bethesda Maryland.

Aim: To psychometrically test the Genetics and Genomics Nursing Practice Survey (GGNPS) for evidence of content, face and construct validity.

Design: This study was a secondary data analysis.

Method: Data collected from the Method for Introducing a New Competency into Nursing Practice (MINC) study were used to evaluate the GGNPS for evidence of construct validity via structural equation modelling and confirmatory factor analysis. Face validity was evaluated via feedback from practicing RNs without specific experience with or knowledge of genetics/genomics. Content validity was evaluated via content expert feedback and assessment of a content validity index.

Results: The thresholds for evidence of content and face validity were met. However, we found less evidence for construct validity of the GGNPS; an exploratory factor analysis, conducted to gain additional insight into the theorized latent constructs, determined that the variables were more interrelated that previously predicted.
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October 2019

Genomics education in nursing in Hong Kong, Taiwan and Mainland China.

Int Nurs Rev 2019 Dec 17;66(4):459-466. Epub 2019 Jul 17.

The Nethersole School of Nursing, The Chinese University of Hong Kong, Hong Kong, Hong Kong.

Aim: To identify issues and challenges of genomics education in Hong Kong, Taiwan and Mainland China.

Background: The use of genetics/genomics in health care, such as genetic testing, pharmacogenomics and tumour profiling in the context of cancer, is increasing. The rapid application of genetics/genomics in clinical practice requires healthcare providers to be competent to practise genetics-related patient care.

Sources Of Evidence: We reviewed current practices in genomics education in nursing in Hong Kong, Taiwan and Mainland China, including the opportunities for nurses to advance their knowledge and recommendations to incorporate genomics education in the nursing curriculum in these regions.

Findings: While many citizens and health professionals recognize the importance of new and exciting research areas of genomics/genetics, there are still many gaps in the translation of genetic/genomic medicine into clinical practice. There is also a similar lack of genetics professionals in China.

Conclusion: Hong Kong, Taiwan and Mainland China face challenges in promoting genetic education in nursing. A strategic approach in a coordinated effort ineffectively translating genomic knowledge into healthcare practice should be established in these three regions.

Implications For Nursing And Policy: Nursing educators in Hong Kong, Taiwan and Mainland China should link with the international nursing community (e.g. Global Genomics Nursing Alliance) and form closer networks to improve education in the area of genetics and genomics. From a policy level, genomics education is suggested to be incorporated in nursing curriculum to enhance nurses' competency in incorporating genetics/genomics service into patient care.
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December 2019

Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy.

Proc Natl Acad Sci U S A 2019 04 11;116(18):9008-9013. Epub 2019 Apr 11.

Section of Hematology/Oncology, Department of Medicine, University of Chicago, Chicago, IL 60637.

Survival from malignant mesothelioma, particularly pleural mesothelioma, is very poor. For patients with breast, ovarian, or prostate cancers, overall survival is associated with increased sensitivity to platinum chemotherapy due to loss-of-function mutations in DNA repair genes. The goal of this project was to evaluate, in patients with malignant mesothelioma, the relationship between inherited loss-of-function mutations in DNA repair and other tumor suppressor genes and overall survival following platinum chemotherapy. Patients with histologically confirmed malignant mesothelioma were evaluated for inherited mutations in tumor suppressor genes. Survival was evaluated with respect to genotype and site of mesothelioma. Among 385 patients treated with platinum chemotherapy, median overall survival was significantly longer for patients with loss-of-function mutations in any of the targeted genes compared with patients with no such mutation ( = 0.0006). The effect of genotype was highly significant for patients with pleural mesothelioma (median survival 7.9 y versus 2.4 y, = 0.0012), but not for patients with peritoneal mesothelioma (median survival 8.2 y versus 5.4 y, = 0.47). Effect of patient genotype on overall survival, measured at 3 y, remained independently significant after adjusting for gender and age at diagnosis, two other known prognostic factors. Patients with pleural mesothelioma with inherited mutations in DNA repair and other tumor suppressor genes appear to particularly benefit from platinum chemotherapy compared with patients without inherited mutations. These patients may also benefit from other DNA repair targeted therapies such as poly-ADP ribose polymerase (PARP) inhibitors.
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April 2019

Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC).

J Med Genet 2019 06 11;56(6):370-379. Epub 2019 Feb 11.

Thoracic and Surgical Oncology Branch, National Cancer Institute, Bethesda, Maryland, USA.

Introduction: Hereditary diffuse gastric cancer (HDGC) is a cancer syndrome associated with variants in E-cadherin (CDH1), diffuse gastric cancer and lobular breast cancer. There is considerable heterogeneity in its clinical manifestations. This study aimed to determine associations between CDH1 germline variant status and clinical phenotypes of HDGC.

Methods: One hundred and fifty-two HDGC families, including six previously unreported families, were identified. CDH1 gene-specific guidelines released by the Clinical Genome Resource (ClinGen) CDH1 Variant Curation Expert Panel were applied for pathogenicity classification of truncating, missense and splice site CDH1 germline variants. We evaluated ORs between location of truncating variants of CDH1 and incidence of colorectal cancer, breast cancer and cancer at young age (gastric cancer at <40 or breast cancer <50 years of age).

Results: Frequency of truncating germline CDH1 variants varied across functional domains of the E-cadherin receptor gene and was highest in linker (0.05785 counts/base pair; p=0.0111) and PRE regions (0.10000; p=0.0059). Families with truncating CDH1 germline variants located in the PRE-PRO region were six times more likely to have family members affected by colorectal cancer (OR 6.20, 95% CI 1.79 to 21.48; p=0.004) compared with germline variants in other regions. Variants in the intracellular E-cadherin region were protective for cancer at young age (OR 0.2, 95% CI 0.06 to 0.64; p=0.0071) and in the linker regions for breast cancer (OR 0.35, 95% CI 0.12 to 0.99; p=0.0493). Different CDH1 genotypes were associated with different intracellular signalling activation levels including different p-ERK, p-mTOR and β-catenin levels in early submucosal T1a lesions of HDGC families with different CDH1 variants.

Conclusion: Type and location of CDH1 germline variants may help to identify families at increased risk for concomitant cancers that might benefit from individualised surveillance and intervention strategies.
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June 2019

A Comparison of Physicians' and Nurse Practitioners' Use of Race in Clinical Decision-Making.

Ethn Dis 2019 17;29(1):1-8. Epub 2019 Jan 17.

Health Disparities Unit, Social and Behavioral Research Branch, Division of Intramural Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.

Objective: The debate over use of race as a proxy for genetic risk of disease continues, but little is known about how primary care providers (nurse practitioners and general internal medicine physicians) currently use race in their clinical practice. Our study investigates primary care providers' use of race in clinical practice.

Methods: Survey data from three cross-sectional parent studies were used. A total of 178 nurse practitioners (NPs) and 759 general internal medicine physicians were included. The outcome of interest was the Racial Attributes in Clinical Evaluation (RACE) scale, which measures explicit use of race in clinical decision-making. Predictor variables included the Genetic Variation Knowledge Assessment Index (GKAI), which measures the providers' knowledge of human genetic variation.

Results: In the final multivariable model, NPs had an average RACE score that was 1.60 points higher than the physicians' score (P=.03). The GKAI score was not significantly associated with the RACE outcome in the final model (P=.67).

Conclusions: Physicians had more knowledge of genetic variation and used patients' race less in the clinical decision-making process than NPs. We speculate that these differences may be related to differences in discipline-specific clinical training and approaches to clinical care. Further exploration of these differences is needed, including examination of physicians' and NPs' beliefs about race, how they use race in disease screening and treatment, and if the use of race is contributing to health care disparities.
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May 2020

Establishing the Genomic Knowledge Matrix for Nursing Science.

J Nurs Scholarsh 2019 01 1;51(1):50-57. Epub 2018 Oct 1.

Xi, Research Geneticist, National Institutes of Health, National Cancer Institute, Center for Cancer Research, Genetics Branch, Bethesda, MD, USA.

Purpose: To establish the knowledge needed to integrate the multiple branches of omics into nursing research to accelerate achieving the research recommendations of the Genomic Nursing Science Blueprint.

Methods: The creation of the Genomic Knowledge Matrix occurred in three phases. In phase 1, the Omics Nursing Science and Education Network (ONSEN) Education Workgroup completed an evidence, bioinformatics, and technology review to inform the components of the Matrix. The ONSEN Advisory Panel then reviewed and integrated revisions. Phase 3 solicited targeted public comment focused on education and research experts, and applicable revisions were made.

Findings: The Genomic Knowledge Matrix establishes the following content areas: cellular and molecular biology, system physiology, microbiology, and translational bioinformatics as the minimum required preparation for nurse scientists to understand omics and to integrate this knowledge into research. The Matrix also establishes levels of understanding needed to function based on the role of the nurse scientist.

Conclusions: The Genomic Knowledge Matrix addresses knowledge important for nurse scientists to integrate genomics into their research. Building on prior recommendations and existing genomic competencies, the Matrix was designed to present key knowledge elements critical to understand omics that underpin health and disease. Knowledge depth varies based on the research role.

Clinical Relevance: The Genomic Knowledge Matrix provides the vital guidance for training nurse scientists in the integration of genomics. The flexibility of the Matrix also provides guidance to inform fundamental genomic content needed in core science content in undergraduate and graduate level nursing curricula.
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January 2019

Increasing nursing capacity in genomics: Overview of existing global genomics resources.

Nurse Educ Today 2018 Oct 6;69:53-59. Epub 2018 Jul 6.

Connecting Science, Wellcome Genome Campus, Cambridge CB10 1SA, UK; Faculty of Education, University of Cambridge, UK. Electronic address:

Background: Global genomic literacy of all health professions, including nurses, remains low despite an inundation of genomic information with established clinical and analytic validity and clinical utility. Genomic literacy and competency deficits contribute to lost opportunities to take advantage of the benefits that genomic information provides to improve health outcomes, reduce healthcare costs, and increase patient quality and safety. Nurses are essential to the integration of genomics into healthcare. The greatest challenges to realizing their potential in successful integration include education and awareness. Identification of resources, their focus, whether they targeted at nursing, and how to access them, form the foundation for a global genomic resource initiative led by the Global Genomics Nursing Alliance.

Objectives: The aim was to identify existing global genomic resources and competencies, identifying the source, type and accessibility.

Design: Cross sectional online descriptive survey to ascertain existing genomic resources.

Settings: Limited to eighteen countries and seven organizations represented by delegates attending the inaugural meeting in 2017 of the Global Genomics Nursing Alliance.

Participants: A purposive sample of global nursing leaders and representatives of national and international nursing organizations.

Methods: The primary method was by online survey administered following an orientation webinar. Given the small numbers of nurse leaders in genomics within our sample (and indeed within the world), results were analyzed and presented descriptively. Those identifying resources provided further detailed resource information. Additional data were collected during a face-to-face meeting using an electronic audience-response system.

Results: Of the twenty-three global delegates responding, 9 identified existing genomic resources that could be used for academic or continuing genomics education. Three countries have competence frameworks to guide learning and 5 countries have national organizations for genetics nurses.

Conclusions: The genomic resources that already exist are not readily accessible or discoverable to the international nursing community and as such are underutilized.
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October 2018

The Global Landscape of Nursing and Genomics.

J Nurs Scholarsh 2018 05 2;50(3):249-256. Epub 2018 Apr 2.

Head of Society and Ethics Research, Connecting Science, Wellcome Genome Campus, Cambridgeshire, UK.

Purpose: Nurses have a pivotal role in bringing the benefits of genomics and precision medicine to everyday health care, but a concerted global effort is needed to transform nursing policy and practice to address widely acknowledged deficits in nurses' genomic literacy. The purpose was to conduct a global country and organization review of nursing engagement with genomics, informing a landscape analysis to assess readiness for integration of genomics into nursing.

Design: Global nursing leaders and nursing organizations were recruited using a purposive sampling strategy to complete an online survey that assessed the scope of genomic integration in practice and education, challenges and barriers, and priorities for action.

Methods: The survey was administered online following an orientation webinar. Given the small numbers of nurse leaders globally, results were analyzed and presented descriptively.

Findings: Delegates consisted of 23 nurse leaders from across the world. Genomic services were offered predominantly in specialty centers consisting mostly of newborn screening (15/18) and prenatal screening (11/18). Genomic literacy and infrastructure deficits were identified in both practice and education settings, with only one country reporting a genetic/genomic knowledge and skill requirement to practice as a general nurse.

Conclusions: These data provide insights into the commitment to and capacity for nursing to integrate genomics, revealing common themes and challenges associated with adoption of genomic health services and integration into practice, education, and policy. Such insights offer valuable context and baseline information to guide the activities of a new Global Genomics Nursing Alliance (G2NA). The G2NA will use the landscaping exercise as a springboard to explore how to accelerate the integration of genomics into nursing healthcare.

Clinical Relevance: Genomics is relevant to all healthcare providers across the healthcare continuum. It provides an underpinning for understanding health, risks for and manifestations of disease, therapeutic decisions, development of new therapies, and responses to interventions. Harnessing the benefits of genomics to improve health and care outcomes and reduce costs is a global nursing challenge.
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May 2018

Hospital nursing leadership-led interventions increased genomic awareness and educational intent in Magnet settings.

Nurs Outlook 2018 May - Jun;66(3):244-253. Epub 2017 Nov 13.

University of North Carolina Wilmington School of Nursing, Wilmington, NC.

Background: The Precision Medicine Initiative will accelerate genomic discoveries that improve health care, necessitating a genomic competent workforce.

Purpose: This study assessed leadership team (administrator/educator) year-long interventions to improve registered nurses' (RNs) capacity to integrate genomics into practice.

Methods: We examined genomic competency outcomes in 8,150 RNs.

Findings: Awareness and intention to learn more increased compared with controls. Findings suggest achieving genomic competency requires a longer intervention and support strategies such as infrastructure and policies. Leadership played a role in mobilizing staff, resources, and supporting infrastructure to sustain a large-scale competency effort on an institutional basis.

Discussion: Results demonstrate genomic workforce competency can be attained with leadership support and sufficient time. Our study provides evidence of the critical role health-care leaders play in facilitating genomic integration into health care to improve patient outcomes. Genomics' impact on quality, safety, and cost indicate a leader-initiated national competency effort is achievable and warranted.
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February 2019

Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.

Genet Med 2017 08 26;19(8):955-958. Epub 2017 Jan 26.

Genetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA.

Purpose: Ewing sarcoma is a small round blue cell tumor that is highly malignant and predominantly affects the adolescent and young adult population. It has long been suspected that a genetic predisposition exists for this cancer, but the germ-line genetic underpinnings of this disease have not been well established.

Methods: We performed germline variant analysis of whole-genome or whole-exome sequencing of samples from 175 patients affected by Ewing sarcoma.

Results: We discovered pathogenic or likely pathogenic germline mutations in 13.1% of our cohort. Pathogenic mutations were highly enriched for genes involved with DNA damage repair and for genes associated with cancer predisposition syndromes.

Conclusion: Our findings reported here have important clinical implications for patients and families affected by Ewing sarcoma. Genetic counseling should be considered for patients and families affected by this disease to take advantage of existing risk management strategies. Our study also highlights the importance of germline sequencing for patients enrolled in precision-medicine protocols.Genet Med advance online publication 26 January 2017.
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August 2017

Genetic and Genomic Competencies for Nursing Informatics Internationally.

Stud Health Technol Inform 2017 ;232:152-164

Center for Cancer Research, Genetics Branch, National Institutes of Health, National Cancer Institute.

The majority of health professionals now have genetic and genomic competencies and some are measured by certification standards. Nursing has a proud history of defining roles for nursing in informatics and genetics. In addition, the nursing professional organization, the American Nurses Association, has a Certification Center that has successfully achieved ISO 9001:2008 certification in the design, development, and delivery of global credentialing services which encompasses certification of advanced practice nurses in genetics. ISO 9001:2008 certification is the firmly established global standard for assuring stakeholders of an organization's ability to satisfy quality-related requirements. However, despite the addition of genomics into the Informatics Scope and Standards of Practice, there is a need to define the integration of the genetic, genomics and other omics competencies into the informatics domain, especially the Electronic Health Record. Currently, there are also international and interprofessional activities and organizations that have established or are identifying competencies in genetics and genomics. There remains a need for more international collaborations to build upon the current resources and strategies implemented by several countries, to learn from each other, support each other, and to collaborate to answer questions and reduce duplication of efforts.
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June 2018

Nurses' Use of Race in Clinical Decision Making.

J Nurs Scholarsh 2016 11 27;48(6):577-586. Epub 2016 Sep 27.

Associate Investigator, Health Disparities Unit, Social and Behavioral Research Branch, Division of Intramural Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Purpose: To examine nurses' self-reported use of race in clinical evaluation.

Design: This cross-sectional study analyzed data collected from three separate studies using the Genetics and Genomics in Nursing Practice Survey, which includes items about use of race and genomic information in nursing practice. The Racial Attributes in Clinical Evaluation (RACE) scale was used to measure explicit clinical use of race among nurses from across the United States.

Methods: Multivariate regression analysis was used to examine associations between RACE score and individual-level characteristics and beliefs in 5,733 registered nurses.

Findings: Analysis revealed significant relationships between RACE score and nurses' race and ethnicity, educational level, and views on the clinical importance of patient demographic characteristics. Asian nurses reported RACE scores 1.41 points higher than White nurses (p < .001), and Black nurses reported RACE scores 0.55 points higher than White nurses (p < .05). Compared to diploma-level nurses, the baccalaureate-level nurses reported 0.69 points higher RACE scores (p < .05), master's-level nurses reported 1.63 points higher RACE scores (p < .001), and doctorate-level nurses reported 1.77 points higher RACE scores (p < .01). In terms of clinical importance of patient characteristics, patient race and ethnicity corresponded to a 0.54-point increase in RACE score (p < .001), patient genes to a 0.21-point increase in RACE score (p < .001), patient family history to a 0.15-point increase in RACE score (p < .01), and patient age to a 0.19-point increase in RACE score (p < .001).

Conclusions: Higher reported use of race among minority nurses may be due, in part, to differential levels of racial self-awareness. A relatively linear positive relationship between level of nursing degree nursing education and use of race suggests that a stronger foundation of knowledge about genetic ancestry, population genetics and the concept "race" and genetic ancestry may increase in clinical decision making could allow nurses to more appropriately use of race in clinical care. Integrating patient demographic characteristics into clinical decisions is an important component of nursing practice.

Clinical Relevance: Registered nurses provide care for diverse racial and ethnic patient populations and stand on the front line of clinical care, making them essential for reducing racial and ethnic disparities in healthcare delivery. Exploring registered nurses' individual-level characteristics and clinical use of race may provide a more comprehensive understanding of specific training needs and inform nursing education and practice.
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November 2016

Test-Retest Reliability of the Genetics and Genomics in Nursing Practice Survey Instrument.

J Nurs Meas 2016 ;24(1):54-68

National Cancer Institute, National Institutes of Health, Maryland, USA.

Background And Purpose: Assessment of nursing genomic competency is critical given increasing genomic applications to health care. The study aims were to determine the test-retest reliability of the Genetics and Genomics in Nursing Practice Survey (GGNPS), which measures this competency, and to revise the survey accordingly.

Methods: Registered nurses (n = 232) working at 2 Magnet-designated hospitals participating in a multiinstitutional genomic competency study completed the GGNPS. Cohen's kappa and weighted kappa were used to measure the agreement of item responses between Time 1 and Time 2. Survey items were revised based on the results.

Results: Mean agreement for the instrument was 0.407 (range = 0.150-1.000). Moderate agreement or higher was achieved in 39% of the items.

Conclusions: GGNPS test-retest reliability was not optimal, and the instrument was refined based on the study findings. Further testing of the revised instrument is planned to assess the instrument performance.
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March 2017

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

Am J Hum Genet 2016 05 14;98(5):830-842. Epub 2016 Apr 14.

Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia. Electronic address:

Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-dominant cancer-predisposition syndrome with a significant risk of gastric, but not colorectal, adenocarcinoma. We mapped the gene to 5q22 and found loss of the wild-type allele on 5q in fundic gland polyps from affected individuals. Whole-exome and -genome sequencing failed to find causal mutations but, through Sanger sequencing, we identified point mutations in APC promoter 1B that co-segregated with disease in all six families. The mutations reduced binding of the YY1 transcription factor and impaired activity of the APC promoter 1B in luciferase assays. Analysis of blood and saliva from carriers showed allelic imbalance of APC, suggesting that these mutations lead to decreased allele-specific expression in vivo. Similar mutations in APC promoter 1B occur in rare families with familial adenomatous polyposis (FAP). Promoter 1A is methylated in GAPPS and sporadic FGPs and in normal stomach, which suggests that 1B transcripts are more important than 1A in gastric mucosa. This might explain why all known GAPPS-affected families carry promoter 1B point mutations but only rare FAP-affected families carry similar mutations, the colonic cells usually being protected by the expression of the 1A isoform. Gastric polyposis and cancer have been previously described in some FAP-affected individuals with large deletions around promoter 1B. Our finding that GAPPS is caused by point mutations in the same promoter suggests that families with mutations affecting the promoter 1B are at risk of gastric adenocarcinoma, regardless of whether or not colorectal polyps are present.
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May 2016

The impact of genomics on health outcomes, quality, and safety.

Nurs Manage 2016 Apr;47(4):23-6

Kathleen A. McCormick is the principal/CEO of SciMind, LLC, in North Potomac, Md. Kathleen A. Calzone is a senior nurse specialist, research, Genetics Branch, at the National Institutes of Health's National Cancer Institute Center for Cancer Research in Bethesda, Md.

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April 2016

MultiDimensional ClinOmics for Precision Therapy of Children and Adolescent Young Adults with Relapsed and Refractory Cancer: A Report from the Center for Cancer Research.

Clin Cancer Res 2016 08 18;22(15):3810-20. Epub 2016 Mar 18.

Oncogenomics Section, Genetics Branch, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland.

Purpose: We undertook a multidimensional clinical genomics study of children and adolescent young adults with relapsed and refractory cancers to determine the feasibility of genome-guided precision therapy.

Experimental Design: Patients with non-central nervous system solid tumors underwent a combination of whole exome sequencing (WES), whole transcriptome sequencing (WTS), and high-density single-nucleotide polymorphism array analysis of the tumor, with WES of matched germline DNA. Clinically actionable alterations were identified as a reportable germline mutation, a diagnosis change, or a somatic event (including a single nucleotide variant, an indel, an amplification, a deletion, or a fusion gene), which could be targeted with drugs in existing clinical trials or with FDA-approved drugs.

Results: Fifty-nine patients in 20 diagnostic categories were enrolled from 2010 to 2014. Ages ranged from 7 months to 25 years old. Seventy-three percent of the patients had prior chemotherapy, and the tumors from these patients with relapsed or refractory cancers had a higher mutational burden than that reported in the literature. Thirty patients (51% of total) had clinically actionable mutations, of which 24 (41%) had a mutation that was currently targetable in a clinical trial setting, 4 patients (7%) had a change in diagnosis, and 7 patients (12%) had a reportable germline mutation.

Conclusions: We found a remarkably high number of clinically actionable mutations in 51% of the patients, and 12% with significant germline mutations. We demonstrated the clinical feasibility of next-generation sequencing in a diverse population of relapsed and refractory pediatric solid tumors. Clin Cancer Res; 22(15); 3810-20. ©2016 AACR.
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August 2016

Hereditary cancer syndromes as model systems for chemopreventive agent development.

Semin Oncol 2016 Feb 7;43(1):134-145. Epub 2015 Sep 7.

National Institutes of Health, National Cancer Institute, Center for Cancer Research, Genetics Branch, Bethesda, MD, USA. Electronic address:

Research in chemoprevention has undergone a shift in emphasis for pragmatic reasons from large, phase III randomized studies to earlier phase studies focused on safety, mechanisms, and utilization of surrogate endpoints such as biomarkers instead of cancer incidence. This transition permits trials to be conducted in smaller populations and at substantially reduced costs while still yielding valuable information. This article will summarize some of the current chemoprevention challenges and the justification for the use of animal models to facilitate identification and testing of chemopreventive agents as illustrated though four inherited cancer syndromes. Preclinical models of inherited cancer syndromes serve as prototypical systems in which chemopreventive agents can be developed for ultimate application to both the sporadic and inherited cancer settings.
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February 2016

Methods of genomic competency integration in practice.

J Nurs Scholarsh 2015 May 21;47(3):200-10. Epub 2015 Mar 21.

Kappa, Clinical Advisor, National Institutes of Health, National Human Genome Research Institute, Division of Policy, Communications, and Education, Genomic Healthcare Branch, Bethesda, MD.

Purpose: Genomics is increasingly relevant to health care, necessitating support for nurses to incorporate genomic competencies into practice. The primary aim of this project was to develop, implement, and evaluate a year-long genomic education intervention that trained, supported, and supervised institutional administrator and educator champion dyads to increase nursing capacity to integrate genomics through assessments of program satisfaction and institutional achieved outcomes.

Design: Longitudinal study of 23 Magnet Recognition Program® Hospitals (21 intervention, 2 controls) participating in a 1-year new competency integration effort aimed at increasing genomic nursing competency and overcoming barriers to genomics integration in practice.

Methods: Champion dyads underwent genomic training consisting of one in-person kick-off training meeting followed by monthly education webinars. Champion dyads designed institution-specific action plans detailing objectives, methods or strategies used to engage and educate nursing staff, timeline for implementation, and outcomes achieved. Action plans focused on a minimum of seven genomic priority areas: champion dyad personal development; practice assessment; policy content assessment; staff knowledge needs assessment; staff development; plans for integration; and anticipated obstacles and challenges. Action plans were updated quarterly, outlining progress made as well as inclusion of new methods or strategies. Progress was validated through virtual site visits with the champion dyads and chief nursing officers. Descriptive data were collected on all strategies or methods utilized, and timeline for achievement. Descriptive data were analyzed using content analysis.

Findings: The complexity of the competency content and the uniqueness of social systems and infrastructure resulted in a significant variation of champion dyad interventions.

Conclusions: Nursing champions can facilitate change in genomic nursing capacity through varied strategies but require substantial training in order to design and implement interventions.

Clinical Relevance: Genomics is critical to the practice of all nurses. There is a great opportunity and interest to address genomic knowledge deficits in the practicing nurse workforce as a strategy to improve patient outcomes. Exemplars of champion dyad interventions designed to increase nursing capacity focus on improving education, policy, and healthcare services.
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May 2015

Interventions to improve patient access to and utilisation of genetic and genomic counselling services.

Cochrane Database Syst Rev 2015;2015(11). Epub 2015 Nov 17.

Manchester Centre for Health Economics, The University of Manchester, Manchester, UK.

This is the protocol for a review and there is no abstract. The objectives are as follows.

Primary Objective: The primary objective is to assess the effectiveness of interventions to improve patient identification, access to and utilisation of genetic and genomic counselling services when compared to: No intervention;Usual or current practice; andOther active intervention.

Secondary Objective: The secondary objective is to explore the resource use and costs associated with interventions aimed at improving patient identification, access to and utilisation of genetic and genomic counselling services from studies meeting the eligibility criteria. We will report on factors that may explain variation in the effectiveness of interventions aimed at improving patient identification, access to and utilisation of genetic and genomic counselling services from studies meeting the eligibility criteria. Another secondary objective is to explore how interventions which target improved patient identification, access to and utilisation of genetic and genomic counselling services affect the subsequent appropriate use of health services for the prevention or early detection of disease. It is also possible that the genetic counselling interaction itself will contribute to the possible use of preventative services.
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November 2015

Introducing a New Competency Into Nursing Practice.

J Nurs Regul 2014 Apr;5(1):40-47

Kathleen A. Calzone, PhD, RN, APNG, FAAN, is a senior nurse specialist, research, National Institutes of Health, National Cancer Institute, Center for Cancer Research, Genetics Branch. Jean Jenkins, PhD, RN, FAAN, is a clinical advisor, National Institutes of Health, National Human Genome Research Institute, Genomic Healthcare Branch. Stacey Culp, PhD, is a research assistant professor, West Virginia University School of Nursing, Morgantown. Sarah Caskey, MS, is a project manager, West Virginia University School of Nursing. Laurie Badzek, LLM, JD, MS, RN, FAAN, is a professor and senior author, West Virginia University School of Nursing.

As science advances, new competencies must be integrated into nursing practice to ensure the provision of safe, responsible, and accountable care. This article utilizes a model for integrating a new complex competency into nursing practice, using genomics as the exemplar competency. Nurses working at 23 Magnet® Recognition Program hospitals participated in a 1-year new competency integration effort.The aim of the study was to evaluate nursing workforce attitudes, receptivity, confidence, competency, knowledge, and practices regarding genomics. Results were analyzed using descriptive statistical techniques. Respondents were 7,798 licensed registered nurses. The majority (89%) said it was very or somewhat important for nurses to become more educated in the genetics of common diseases. Overall, the respondents felt genomics was important, but a genomic nursing competency deficit affecting all nurses regardless of academic preparation or role was observed. The study findings provide essential information to help guide the integration of a new competency into nursing practice.
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April 2014

Relationships between computer-extracted mammographic texture pattern features and BRCA1/2 mutation status: a cross-sectional study.

Breast Cancer Res 2014 23;16(4):424. Epub 2014 Aug 23.

Hormonal and Reproductive Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 9609 Medical Center Drive, Rm, 7-E108, Bethesda 20892-9774, MD, USA.

Introduction: Mammographic density is similar among women at risk of either sporadic or BRCA1/2-related breast cancer. It has been suggested that digitized mammographic images contain computer-extractable information within the parenchymal pattern, which may contribute to distinguishing between BRCA1/2 mutation carriers and non-carriers.

Methods: We compared mammographic texture pattern features in digitized mammograms from women with deleterious BRCA1/2 mutations (n = 137) versus non-carriers (n = 100). Subjects were stratified into training (107 carriers, 70 non-carriers) and testing (30 carriers, 30 non-carriers) datasets. Masked to mutation status, texture features were extracted from a retro-areolar region-of-interest in each subject's digitized mammogram. Stepwise linear regression analysis of the training dataset identified variables to be included in a radiographic texture analysis (RTA) classifier model aimed at distinguishing BRCA1/2 carriers from non-carriers. The selected features were combined using a Bayesian Artificial Neural Network (BANN) algorithm, which produced a probability score rating the likelihood of each subject's belonging to the mutation-positive group. These probability scores were evaluated in the independent testing dataset to determine whether their distribution differed between BRCA1/2 mutation carriers and non-carriers. A receiver operating characteristic analysis was performed to estimate the model's discriminatory capacity.

Results: In the testing dataset, a one standard deviation (SD) increase in the probability score from the BANN-trained classifier was associated with a two-fold increase in the odds of predicting BRCA1/2 mutation status: unadjusted odds ratio (OR) = 2.00, 95% confidence interval (CI): 1.59, 2.51, P = 0.02; age-adjusted OR = 1.93, 95% CI: 1.53, 2.42, P = 0.03. Additional adjustment for percent mammographic density did little to change the OR. The area under the curve for the BANN-trained classifier to distinguish between BRCA1/2 mutation carriers and non-carriers was 0.68 for features alone and 0.72 for the features plus percent mammographic density.

Conclusions: Our findings suggest that, unlike percent mammographic density, computer-extracted mammographic texture pattern features are associated with carrying BRCA1/2 mutations. Although still at an early stage, our novel RTA classifier has potential for improving mammographic image interpretation by permitting real-time risk stratification among women undergoing screening mammography.
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June 2015

Evidence synthesis and guideline development in genomic medicine: current status and future prospects.

Genet Med 2015 Jan 19;17(1):63-7. Epub 2014 Jun 19.

1] Epidemiology and Genomics Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland, USA [2] Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

Purpose: With the accelerated implementation of genomic medicine, health-care providers will depend heavily on professional guidelines and recommendations. Because genomics affects many diseases across the life span, no single professional group covers the entirety of this rapidly developing field.

Methods: To pursue a discussion of the minimal elements needed to develop evidence-based guidelines in genomics, the Centers for Disease Control and Prevention and the National Cancer Institute jointly held a workshop to engage representatives from 35 organizations with interest in genomics (13 of which make recommendations). The workshop explored methods used in evidence synthesis and guideline development and initiated a dialogue to compare these methods and to assess whether they are consistent with the Institute of Medicine report "Clinical Practice Guidelines We Can Trust."

Results: The participating organizations that develop guidelines or recommendations all had policies to manage guideline development and group membership, and processes to address conflicts of interests. However, there was wide variation in the reliance on external reviews, regular updating of recommendations, and use of systematic reviews to assess the strength of scientific evidence.

Conclusion: Ongoing efforts are required to establish criteria for guideline development in genomic medicine as proposed by the Institute of Medicine.
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January 2015