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1.  A Blueprint for Genomic Nursing Science 
This article reports on recommendations arising from an invitational workshop series held at the National Institutes of Health for the purposes of identifying critical genomics problems important to the health of the public that can be addressed through nursing science. The overall purpose of the Genomic Nursing State of the Science Initiative is to establish a nursing research blueprint based on gaps in the evidence and expert evaluation of the current state of the science and through public comment.
Organizing Constructs
A Genomic Nursing State of the Science Advisory Panel was convened in 2012 to develop the nursing research blueprint. The Advisory Panel, which met via two webinars and two in-person meetings, considered existing evidence from evidence reviews, testimony from key stakeholder groups, presentations from experts in research synthesis, and public comment.
The genomic nursing science blueprint arising from the Genomic Nursing State of Science Advisory Panel focuses on biologic plausibility studies as well as interventions likely to improve a variety of outcomes (e.g., clinical, economic, environmental). It also includes all care settings and diverse populations. The focus is on (a) the client, defined as person, family, community, or population; (b) the context, targeting informatics support systems, capacity building, education, and environmental influences; and (c) cross-cutting themes. It was agreed that building capacity to measure the impact of nursing actions on costs, quality, and outcomes of patient care is a strategic and scientific priority if findings are to be synthesized and aggregated to inform practice and policy.
The genomic nursing science blueprint provides the framework for furthering genomic nursing science to improve health outcomes. This blueprint is an independent recommendation of the Advisory Panel with input from the public and is not a policy statement of the National Institutes of Health or the federal government.
Clinical Relevance
This genomic nursing science blueprint targets research to build the evidence base to inform integration of genomics into nursing practice and regulation (such as nursing licensure requirements, institutional accreditation, and academic nursing school accreditation).
PMCID: PMC3594405  PMID: 23368636
2.  Survey of Nursing Integration of Genomics Into Nursing Practice 
Translating clinically valid genomic discoveries into practice is hinged not only on technologic advances, but also on nurses—the largest global contingent of health providers—acquiring requisite competencies to apply these discoveries in clinical care. The study aim was to assess practicing nurse attitudes, practices, receptivity, confidence, and competency of integrating genomics into nursing practice.
A convenience sample of practicing nurses was recruited to complete an online survey that assessed domains from Roger’s Diffusion of Innovations Theory and used family history utilization as the basis for competency assessment.
Results were tabulated and analyzed using descriptive statistical techniques.
Two-hundred-thirty-nine licensed registered nurses, 22 to 72 years of age, with a median of 20 years in practice, responded, for an overall response rate of 28%. Most were White (83%), female (92%), and held baccalaureate degrees (56%). Seventy-one percent considered genetics to be very important to nursing practice; however, 81% rated their understanding of the genetics of common diseases as poor or fair. Per-question response rates varied widely. Instrument assessment indicated that modifications were necessary to decrease respondent burden.
Respondents’ perceived genomic competency was inadequate, family history was not routinely utilized in care delivery, and the extent of family history varied widely. However, most nurses indicated interest in pursuing continuing genomic education.
Clinical Relevance
Findings from this study can lead to the development of targeted education that will facilitate optimal workforce preparation for the ongoing influx of genetics and genomics information, technologies, and targeted therapies into the healthcare arena. This pilot study provides a foundation on which to build the next step, which includes a national nursing workforce study.
PMCID: PMC3515630  PMID: 23205780
3.  Are Nursing Faculty Ready to Integrate Genomic Content into Curricula? 
Nurse educator  2012;37(1):25-29.
Genomics is an emerging field with newly developed expectations for all healthcare professionals. Nursing faculty are critical to preparing the future nursing workforce in genomics but faculty knowledge, receptivity and interest in learning more about this subject was an unknown. The authors discuss the process used to assess nursing faculty’s readiness to change as a way to substantiate the need for faculty training.
PMCID: PMC3251508  PMID: 22158000
4.  Colonoscopy use following mutation detection in Lynch syndrome: Exploring a role for cancer screening in adaptation 
Clinical genetics  2011;79(4):321-328.
Lynch syndrome is the most common inherited form of colorectal cancer. Mutation carriers can reduce the morbidity and mortality associated with colorectal cancer through colonoscopy. Theoretical models suggest that such health related behaviors might also bring psychological benefits. This study assessed whether colonoscopy following mutation detection was associated with levels of depressive symptoms.
Data were obtained from a prospective family cohort study offering genetic services for Lynch syndrome. Participants completed questionnaires prior to the provision of services and 6-months post receipt of mutation results. One hundred thirty four (134) persons were identified to carry a mutation and completed both questionnaires. Main outcome measures were depressive symptoms 6-months post-receipt of test results.
Mutation carriers who did not complete a colonoscopy within the 6 months following receipt of results were 6 times (p<0.01; OR=6.06) more likely to report depressive symptoms at a level of clinical importance compared to those who did undergo colonoscopy.
Facilitating the expeditious use of colonoscopy following mutation detection may benefit newly identified mutation carriers by addressing the objective risks for cancer and moderating underlying emotional distress responses to genetic risk information. Further, depressive symptoms may interfere with behavioral compliance in some patients, suggesting referral to mental health specialists.
PMCID: PMC3407565  PMID: 21204803
Colonoscopy; health behavior; genetic testing; HNPCC / Lynch syndrome
5.  Family Physicians’ Beliefs about Genetic Contributions to Racial/Ethnic and Gender Differences in Health and Clinical Decision-Making 
Community Genetics  2008;11(6):352-358.
Greater attention towards genetics as a contributor to group health differences may lead to inappropriate use of race/ethnicity and gender as genetic heuristics and exacerbate health disparities. As part of a web-based survey, 1,035 family physicians (FPs) rated the contribution of genetics and environment to racial/ethnic and gender differences in health outcomes, and the importance of race/ethnicity and gender in their clinical decision-making. FPs attributed racial/ethnic and gender differences in health outcomes equally to environment and genetics. These beliefs were not associated with rated importance of race/ethnicity or gender in clinical decision-making. FPs appreciate the complexity of genetic and environmental influences on health differences by race/ethnicity and gender.
PMCID: PMC3399248  PMID: 18690003
Genetics; Race; Ethnicity; Gender; Clinical practice; Health disparities
6.  Establishing the Outcome Indicators for the Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics 
The translation of genetics/genomics to clinical care has implications for nurses. The Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics, established by consensus, apply to all registered nurses. Learning outcomes and clinical practice indicators have been developed to provide additional guidance.
The Essentials Advisory Group (EAG) established a team to establish the Outcome Indicators. A draft was developed based on published, peer reviewed documents and syllabi. The draft underwent three layers of review: 1) critique by the EAG; 2) review by representatives at a Genetics/Genomics Toolkit for Faculty meeting; 3) review by workshop attendees at AACN Baccalaureate and Master's Education Conferences; followed by EAG final approval.
Outcome Indicators clarify specific knowledge areas and suggest clinical performance indicators for each competency. They provided the foundation to establish a competency based education repository with outcome indicator mapping matrixes for genetic/genomic education resources. A gap analysis of education resources identified resource deficits and online unfolding case studies were developed.
Outcome Indicators assist the academic and continuing education nurse community to prepare the nursing workforce in genetics/genomics and provide a platform from which to build tools needed to achieve this goal.
PMCID: PMC3099038  PMID: 21596359
Competency; Genetics; Genomics; Nursing Education
7.  Essential Genetic and Genomic Nursing Competencies for the Oncology Nurse 
Seminars in oncology nursing  2011;27(1):64-71.
To review the opportunities and possibilities for advancing oncology nursing competencies in genetic/genomics through the illustration of case scenarios in clinical care.
Data Sources
Literature; research reports.
Oncology nurses have the potential to influence whether or not cutting edge research discoveries are utilized at the bedside. Clinical integration of genetic/genomic information has the potential to optimize health outcomes and lengthen patient lives.
Implications for Nursing Practice
Oncology nurses need to include genetics/genomics in their practice in order to impact quality patient care today and for the future.
PMCID: PMC3059123  PMID: 21255714
Competency; Genetics; Genomics; Oncology Nursing Education
9.  Too Many Referrals of Low-risk Women for BRCA1/2 Genetic Services by Family Physicians 
Increasing availability and public awareness of BRCA1/2 genetic testing will increase women’s self-referrals to genetic services. The objective of this study was to examine whether patient characteristics influence family physicians’ (FPs’) referral decisions when a patient requests BRCA1/2 genetic testing. FPs (n = 284) completed a web-based survey in 2006 to assess their attitudes and practices related to using genetics in their clinical practice. Using a 2×2×2 factorial design we tested the effects of a hypothetical patient’s race, level of worry and insurance status on FPs’ decisions to refer her for BRCA1/2 testing. The patient was not appropriate for referral based on USPSTF guidelines. No patient characteristics were associated with FPs’ referral decisions. Although referral was not indicated, only 8% did not refer to genetic services, 92% referred for genetic services, and 50% referred to genetic counseling. FPs regarded it unlikely that the patient carried a mutation. However, 65% of FPs believed if they refused to refer for genetic services it would harm their relationship with the patient. Despite scarce and costly genetic services FPs were likely to inappropriately refer a low-risk patient who requested BRCA1/2 testing. The implications of this inappropriate referral on women’s screening behavior, genetic services, and health care costs are unknown. Clinicians and patients could benefit from education about appropriate use of genetic services so that both are more comfortable with a decision against referral.
PMCID: PMC2772063  PMID: 18990739
BRCA1/2 genetic services; physician referral; family physicians; evidence-based medicine; practice guidelines
10.  The impact of familial environment on depression scores after genetic testing for cancer susceptibility 
Clinical genetics  2008;75(1):43-49.
The associations between characteristics of family relationships and family trends in cancer worry and the psychological adjustment of recipients of genetic testing for cancer susceptibility were investigated.
Data provided by 178 individuals from 24 families with Lynch syndrome who participated in a cohort study investigating psychological and behavioral outcomes of genetic testing were used. Responses from multiple family members were aggregated to construct family trends representing norms and departure from norms in cancer worry.
Lower perceived family cohesion at baseline and decrease in this variable at 6-months after receipt of test results were associated with higher depression scores at 12-months. More variability in cancer worry among family members at baseline was also associated with higher depression scores at 12-months. Increase in family conflict was associated with decrease in depression scores among individuals from families with higher levels of cancer worry on average and less variability among the members.
Family relationships and family trends in levels of cancer worry may play important roles in the psychological adjustment of genetic test recipients. The findings highlight the complexity of familial environment surrounding individuals that undergo genetic testing and suggest the benefits of considering these factors when providing genetic services.
PMCID: PMC2615793  PMID: 19021640
cancer worry; CES-D; family relationships; genetic testing; Hereditary Nonpolyposis Colorectal Cancer; Lynch syndrome; social environment
11.  Incubator for Infants Undergoing Surgery* 
Archives of Disease in Childhood  1960;35(179):71-75.
PMCID: PMC2012518  PMID: 21032362

Results 1-11 (11)