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Papers by Kathleen Calzone

Research paper thumbnail of Hospital nursing leadership-led interventions increased genomic awareness and educational intent in Magnet settings

Nursing Outlook, May 1, 2018

Background-The Precision Medicine Initiative will accelerate genomic discoveries that improve hea... more Background-The Precision Medicine Initiative will accelerate genomic discoveries that improve healthcare 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. Discussion-Awareness and intention to learn more increased compared to 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. Conclusion-Results demonstrate genomic workforce competency can be attained with leadership support and sufficient time. Our study provides evidence of the critical role healthcare leaders play in facilitating genomic integration into healthcare to improve patient outcomes.

Research paper thumbnail of Genetic predisposition testing: clinical implications for oncology nurses

PubMed, May 1, 1997

Purpose/objectives: To describe for oncology nurses the clinical implications of genetic predispo... more Purpose/objectives: To describe for oncology nurses the clinical implications of genetic predisposition testing for alterations in cancer susceptibility genes. Data sources: Published research and educational manuscripts, books, conference proceedings, and personal experiences. Data synthesis: Genetic predisposition testing for inherited cancer risk has profound clinical implications that eventually will affect all areas of nursing practice. The provision of genetic information raises issues about cancer risk management, psychosocial sequelae, and legal and professional liability. Conclusion: Most healthcare professionals, including nurses, are not adequately prepared to manage the issues resulting from genetic predisposition testing. Furthermore, little data are available to guide practice. Unique educational strategies are needed to prepare providers in this practice arena. Implications for nursing practice: Genetic predisposition testing is becoming more common in general oncology and primary care communities. Nurses will play a major role in the support, counseling, education, informed consent, and follow-up care of individuals who are considering undergoing or who have undergone testing. To meet the needs of patients and their families, oncology nurses must prepare themselves for this new area of practice.

Research paper thumbnail of A Comparison of Physicians' and Nurse Practitioners' Use of Race in Clinical Decision-Making

Ethnicity & Disease, Jan 17, 2019

Research paper thumbnail of Predisposition testing for breast and ovarian cancer susceptibility

Seminars in Oncology Nursing, May 1, 1997

Research paper thumbnail of Non-Hodgkin's Lymphoma as an Exemplar of the Effects of Genetics and Genomics

Journal of Nursing Scholarship, Dec 1, 2006

Research paper thumbnail of Assessing breast cancer risk

Postgraduate Medicine, Oct 1, 2004

Research paper thumbnail of Genomic Education Resources for Nursing Faculty

Journal of Nursing Scholarship, Oct 28, 2011

Research paper thumbnail of Germline Mutations in <i>BRCA1 </i> and <i> BRCA2 </i> in Breast-Ovarian Families From a Breast Cancer Risk Evaluation Clinic

Journal of Clinical Oncology, Apr 15, 2001

PURPOSE: Data from the Breast Cancer Linkage Consortium suggest that the proportion of familial b... more PURPOSE: Data from the Breast Cancer Linkage Consortium suggest that the proportion of familial breast and ovarian cancers linked to BRCA1 or BRCA2 may be as high as 98% depending on the characteristics of the families, suggesting that mutations in BRCA1 or BRCA2 may entirely account for hereditary breast and ovarian cancer families. We sought to determine what proportion of families with both breast and ovarian cancers seen in a breast cancer risk evaluation clinic are accounted for by coding region germline mutations in BRCA1 and BRCA2 as compared to a linkage study group. We also evaluated what clinical parameters were predictive of mutation status. PATIENTS AND METHODS: Affected women from 100 families with at least one case of breast cancer and at least one case of ovarian cancer in the same lineage were screened for germline mutations in the entire coding regions of BRCA1 and BRCA2 by conformation-sensitive gel electrophoresis, apolymerase chain reaction–based heteroduplex analysis, or direct sequencing. RESULTS: Unequivocal deleterious mutations were found in 55% (55 of 100) of the families studied. Mutations in BRCA1 and BRCA2 accounted for 80% and 20% of the mutations overall, respectively. Using multivariate analysis, the strongest predictors of detecting a mutation in BRCA1 or BRCA2 in this study group were the presence of a single family member with both breast and ovarian cancer (P &lt; .0009; odds ratio [OR], 5.68; 95% confidence interval [CI], 2.04 to 15.76) and a young average age at breast cancer diagnosis in the family (P &lt; .0016; OR, 1.69; 95% CI, 1.23 to 2.38). CONCLUSION: These results suggest that at least half of breast/ovarian families evaluated in a high-risk cancer evaluation clinic may have germline mutations in BRCA1 or BRCA2. Whether the remaining families have mutations in noncoding regions in BRCA1, mutations in other, as-yet-unidentified, low-penetrance susceptibility genes, or represent chance clustering remains to be determined.

Research paper thumbnail of Methods of Genomic Competency Integration in Practice

Journal of Nursing Scholarship, Mar 21, 2015

Purpose-Genomics is increasingly relevant to health care, necessitating support for nurses to inc... more 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 institutionspecific 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

Research paper thumbnail of Introducing a New Competency Into Nursing Practice

Journal of Nursing Regulation, Apr 1, 2014

As science advances, new competencies must be integrated into nursing practice to ensure the prov... more 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. With scientific advances, new competencies must be integrated into nursing practice to ensure the provision of safe, responsible, accountable care. Frequently, such integration requires a large scale effort because of the profession's size and diversity: more than 3.2 million licensed nurses, of which 2.9 million are actively practicing (Health Resources and Services Administration [HRSA], 2010). As new concepts become associated with nursing practice, new competencies evolve as a result of research, education, and praxis. The primary aim of this research project is to improve the capacity of institutions to integrate a competency into nursing health care delivery. A detailed understanding of the beliefs, knowledge, and practices of a diverse population of nurses is essential to planning interventions associated with introducing a new competency. In this study, genomics was selected as the exemplar competency for integration evaluation. Genomics is an established core competency for all registered nurses (RNs) regardless of academic preparation, clinical role, or specialty (Consensus Panel on Genetic/Genomic Nursing Competencies, 2009). Personalizing health care through the use of genomics is associated with improving patient quality, safety, and health outcomes, all priorities for nursing regulation.

Research paper thumbnail of Neurotoxicity as a possible manifestation of paclitaxel hypersensitivity reactions

Research paper thumbnail of CE TEST: Genetic Testing for Cancer Predisposition

Cancer Nursing, Feb 1, 2002

Research paper thumbnail of Mentoring Program to Facilitate Evidence-Based Dissemination

Research paper thumbnail of Nursing Management of the Patient with Breast Cancer

Research paper thumbnail of Clinical implications of genetic testing for inherited breast and ovarian cancer risk

Nursing spectrum (D.C./Baltimore metro ed.), Jan 16, 1998

Research paper thumbnail of The impact of genomics on health outcomes, quality, and safety

Nursing management, 2016

The Human Genome Project reached its 25th anniversary on October 1, 2015. Since the project's lau... more The Human Genome Project reached its 25th anniversary on October 1, 2015. Since the project's launch, the implications of genomics science for healthcare and nursing practice have progressed steadily. In 2016, the new spending increase to the National Institutes of Health (NIH) includes $200 million targeted toward the Precision Medicine Initiative. This initiative is intended to accelerate the use of genetic variation in healthcare with specific emphasis on cancer therapeutics, including resistance, as well as establishing a 1 million person or more American research cohort that incorporates biospecimens, diet, lifestyle, and other health information, including links to the electronic health record (EHR) for those who consent. 1 Why should nurse managers care about advances in genomics in healthcare? The impact of genomic information and technology has the potential to improve healthcare outcomes, quality, and safety, and result in cost savings. These outcomes are directly dependent on optimizing the use of information technology in the healthcare system, including the EHR. 2 Individual genetic makeup and variation inform the risk of disease, including in the prenatal, newborn, childhood, and adult contexts; can be used as a screening tool; more precisely characterize health conditions; improve medication selection, including therapies that may be designed to target the underlying disease genomics; and inform management of symptoms. So important are these new advances that the American Nurses Association added the concept of genetics/genomics to the second edition of its Nursing Informatics: Scope and Standards of Practice. These standards state that informatics nurses must be able to "incorporate genetic and genomic technologies and informatics into practice" and "demonstrate in practice the importance of tailoring genetic and genomic information and services to clients based on their culture, religion, knowledge level, literacy, and preferred language." 3 Integration into informatics In 2013, a team of genetic specialty nurses and physicians identified the influences of genetics and genomics across the healthcare continuum: preconception/prenatal care, The authors have disclosed no financial relationships related to this article.

Research paper thumbnail of Randomized Comparison of Group Versus Individual Genetic Education and Counseling for Familial Breast and/or Ovarian Cancer

Journal of Clinical Oncology, May 20, 2005

An efficient approach to education and counseling before BRCA1 and BRCA2 mutation testing is nece... more An efficient approach to education and counseling before BRCA1 and BRCA2 mutation testing is necessary for effective utilization of testing in the community. Education and counseling, when delivered individually, are limited by a shortage of trained health care providers as well as by financial and time constraints. The purpose of this study was to determine whether pretest education and counseling for breast cancer genetics in a group setting is equivalent to that provided on an individual basis. Patients and Methods One hundred forty-two patients at high risk for harboring a BRCA mutation were randomly assigned to group or individual education and counseling sessions. Group education was followed by brief individual counseling. Knowledge and Impact of Events Scales (IES) were administered at baseline and after education and counseling and at 1 week and 3, 6, and 12 months. Satisfaction with education and counseling was measured at completion of the session. Preferred method of education and counseling was solicited at 3 months. Results There was no difference in knowledge or IES scores between groups. When stratified by genetic test results, knowledge scores showed no difference. Regardless of group, post-test IES scores in patients with positive results were higher than patients with negative or uninformative results but returned to baseline by 12 months. Participants were equally satisfied with either method they were assigned. Significantly more time was spent per patient in individual sessions (1.25 hours) than in group education (0.74 hours). Conclusion Our data suggest that group education and counseling may confer similar benefits compared with traditional individual sessions. Additional investigation of this approach in larger numbers of patients is warranted.

Research paper thumbnail of Survey of Nursing Integration of Genomics Into Nursing Practice

Journal of Nursing Scholarship, Dec 1, 2012

Purpose-Translating clinically valid genomic discoveries into practice is hinged not only on tech... more Purpose-Translating clinically valid genomic discoveries into practice is hinged not only on technologic advances, but also on nurses-the largest global contingent of health providersacquiring 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. Design-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. Methods-Results were tabulated and analyzed using descriptive statistical techniques. Findings-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.

Research paper thumbnail of Inherited predisposition to malignant mesothelioma (MM) due to mutations in DNA repair genes

Journal of Clinical Oncology, May 20, 2018

8504Background: Identifying the profile of DNA repair genes predisposing to MM will enable treatm... more 8504Background: Identifying the profile of DNA repair genes predisposing to MM will enable treatment options for patients (pts) and risk assessment for their families. Methods: In this prospective study of the natural history of MM (NCT01950572) we enrolled 239 consecutive pts independent of site of disease, family history of cancer, age at diagnosis, ethnicity, or asbestos exposure. Germline DNA was sequenced for all 239 pts, identifying mutations of all classes in 73 DNA repair genes. Tumor DNA from 12 pts with germline BAP1 mutations was evaluated by whole exome sequencing. Results: Of the 239 pts, 29 (12%) carried a pathogenic germline mutation in a DNA repair gene: BAP1 (N = 17 pts), CHEK2 (N = 5), PALB2 (N = 2), and BRCA2, MLH1, POT1, TP53, and MRE11A (N = 1 each). Pts with mutations were more likely to be female (P = 0.02) and to have been diagnosed with another cancer (P = 0.009). Pts with germline mutations were more likely to have a 1o relative with a diagnosis of MM (P < 0.0001), melanoma (P = ...

Research paper thumbnail of BRCA2 germline mutations in male breast cancer cases and breast cancer families

Nature Genetics, May 1, 1996

Research paper thumbnail of Hospital nursing leadership-led interventions increased genomic awareness and educational intent in Magnet settings

Nursing Outlook, May 1, 2018

Background-The Precision Medicine Initiative will accelerate genomic discoveries that improve hea... more Background-The Precision Medicine Initiative will accelerate genomic discoveries that improve healthcare 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. Discussion-Awareness and intention to learn more increased compared to 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. Conclusion-Results demonstrate genomic workforce competency can be attained with leadership support and sufficient time. Our study provides evidence of the critical role healthcare leaders play in facilitating genomic integration into healthcare to improve patient outcomes.

Research paper thumbnail of Genetic predisposition testing: clinical implications for oncology nurses

PubMed, May 1, 1997

Purpose/objectives: To describe for oncology nurses the clinical implications of genetic predispo... more Purpose/objectives: To describe for oncology nurses the clinical implications of genetic predisposition testing for alterations in cancer susceptibility genes. Data sources: Published research and educational manuscripts, books, conference proceedings, and personal experiences. Data synthesis: Genetic predisposition testing for inherited cancer risk has profound clinical implications that eventually will affect all areas of nursing practice. The provision of genetic information raises issues about cancer risk management, psychosocial sequelae, and legal and professional liability. Conclusion: Most healthcare professionals, including nurses, are not adequately prepared to manage the issues resulting from genetic predisposition testing. Furthermore, little data are available to guide practice. Unique educational strategies are needed to prepare providers in this practice arena. Implications for nursing practice: Genetic predisposition testing is becoming more common in general oncology and primary care communities. Nurses will play a major role in the support, counseling, education, informed consent, and follow-up care of individuals who are considering undergoing or who have undergone testing. To meet the needs of patients and their families, oncology nurses must prepare themselves for this new area of practice.

Research paper thumbnail of A Comparison of Physicians' and Nurse Practitioners' Use of Race in Clinical Decision-Making

Ethnicity & Disease, Jan 17, 2019

Research paper thumbnail of Predisposition testing for breast and ovarian cancer susceptibility

Seminars in Oncology Nursing, May 1, 1997

Research paper thumbnail of Non-Hodgkin's Lymphoma as an Exemplar of the Effects of Genetics and Genomics

Journal of Nursing Scholarship, Dec 1, 2006

Research paper thumbnail of Assessing breast cancer risk

Postgraduate Medicine, Oct 1, 2004

Research paper thumbnail of Genomic Education Resources for Nursing Faculty

Journal of Nursing Scholarship, Oct 28, 2011

Research paper thumbnail of Germline Mutations in <i>BRCA1 </i> and <i> BRCA2 </i> in Breast-Ovarian Families From a Breast Cancer Risk Evaluation Clinic

Journal of Clinical Oncology, Apr 15, 2001

PURPOSE: Data from the Breast Cancer Linkage Consortium suggest that the proportion of familial b... more PURPOSE: Data from the Breast Cancer Linkage Consortium suggest that the proportion of familial breast and ovarian cancers linked to BRCA1 or BRCA2 may be as high as 98% depending on the characteristics of the families, suggesting that mutations in BRCA1 or BRCA2 may entirely account for hereditary breast and ovarian cancer families. We sought to determine what proportion of families with both breast and ovarian cancers seen in a breast cancer risk evaluation clinic are accounted for by coding region germline mutations in BRCA1 and BRCA2 as compared to a linkage study group. We also evaluated what clinical parameters were predictive of mutation status. PATIENTS AND METHODS: Affected women from 100 families with at least one case of breast cancer and at least one case of ovarian cancer in the same lineage were screened for germline mutations in the entire coding regions of BRCA1 and BRCA2 by conformation-sensitive gel electrophoresis, apolymerase chain reaction–based heteroduplex analysis, or direct sequencing. RESULTS: Unequivocal deleterious mutations were found in 55% (55 of 100) of the families studied. Mutations in BRCA1 and BRCA2 accounted for 80% and 20% of the mutations overall, respectively. Using multivariate analysis, the strongest predictors of detecting a mutation in BRCA1 or BRCA2 in this study group were the presence of a single family member with both breast and ovarian cancer (P &lt; .0009; odds ratio [OR], 5.68; 95% confidence interval [CI], 2.04 to 15.76) and a young average age at breast cancer diagnosis in the family (P &lt; .0016; OR, 1.69; 95% CI, 1.23 to 2.38). CONCLUSION: These results suggest that at least half of breast/ovarian families evaluated in a high-risk cancer evaluation clinic may have germline mutations in BRCA1 or BRCA2. Whether the remaining families have mutations in noncoding regions in BRCA1, mutations in other, as-yet-unidentified, low-penetrance susceptibility genes, or represent chance clustering remains to be determined.

Research paper thumbnail of Methods of Genomic Competency Integration in Practice

Journal of Nursing Scholarship, Mar 21, 2015

Purpose-Genomics is increasingly relevant to health care, necessitating support for nurses to inc... more 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 institutionspecific 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

Research paper thumbnail of Introducing a New Competency Into Nursing Practice

Journal of Nursing Regulation, Apr 1, 2014

As science advances, new competencies must be integrated into nursing practice to ensure the prov... more 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. With scientific advances, new competencies must be integrated into nursing practice to ensure the provision of safe, responsible, accountable care. Frequently, such integration requires a large scale effort because of the profession's size and diversity: more than 3.2 million licensed nurses, of which 2.9 million are actively practicing (Health Resources and Services Administration [HRSA], 2010). As new concepts become associated with nursing practice, new competencies evolve as a result of research, education, and praxis. The primary aim of this research project is to improve the capacity of institutions to integrate a competency into nursing health care delivery. A detailed understanding of the beliefs, knowledge, and practices of a diverse population of nurses is essential to planning interventions associated with introducing a new competency. In this study, genomics was selected as the exemplar competency for integration evaluation. Genomics is an established core competency for all registered nurses (RNs) regardless of academic preparation, clinical role, or specialty (Consensus Panel on Genetic/Genomic Nursing Competencies, 2009). Personalizing health care through the use of genomics is associated with improving patient quality, safety, and health outcomes, all priorities for nursing regulation.

Research paper thumbnail of Neurotoxicity as a possible manifestation of paclitaxel hypersensitivity reactions

Research paper thumbnail of CE TEST: Genetic Testing for Cancer Predisposition

Cancer Nursing, Feb 1, 2002

Research paper thumbnail of Mentoring Program to Facilitate Evidence-Based Dissemination

Research paper thumbnail of Nursing Management of the Patient with Breast Cancer

Research paper thumbnail of Clinical implications of genetic testing for inherited breast and ovarian cancer risk

Nursing spectrum (D.C./Baltimore metro ed.), Jan 16, 1998

Research paper thumbnail of The impact of genomics on health outcomes, quality, and safety

Nursing management, 2016

The Human Genome Project reached its 25th anniversary on October 1, 2015. Since the project's lau... more The Human Genome Project reached its 25th anniversary on October 1, 2015. Since the project's launch, the implications of genomics science for healthcare and nursing practice have progressed steadily. In 2016, the new spending increase to the National Institutes of Health (NIH) includes $200 million targeted toward the Precision Medicine Initiative. This initiative is intended to accelerate the use of genetic variation in healthcare with specific emphasis on cancer therapeutics, including resistance, as well as establishing a 1 million person or more American research cohort that incorporates biospecimens, diet, lifestyle, and other health information, including links to the electronic health record (EHR) for those who consent. 1 Why should nurse managers care about advances in genomics in healthcare? The impact of genomic information and technology has the potential to improve healthcare outcomes, quality, and safety, and result in cost savings. These outcomes are directly dependent on optimizing the use of information technology in the healthcare system, including the EHR. 2 Individual genetic makeup and variation inform the risk of disease, including in the prenatal, newborn, childhood, and adult contexts; can be used as a screening tool; more precisely characterize health conditions; improve medication selection, including therapies that may be designed to target the underlying disease genomics; and inform management of symptoms. So important are these new advances that the American Nurses Association added the concept of genetics/genomics to the second edition of its Nursing Informatics: Scope and Standards of Practice. These standards state that informatics nurses must be able to "incorporate genetic and genomic technologies and informatics into practice" and "demonstrate in practice the importance of tailoring genetic and genomic information and services to clients based on their culture, religion, knowledge level, literacy, and preferred language." 3 Integration into informatics In 2013, a team of genetic specialty nurses and physicians identified the influences of genetics and genomics across the healthcare continuum: preconception/prenatal care, The authors have disclosed no financial relationships related to this article.

Research paper thumbnail of Randomized Comparison of Group Versus Individual Genetic Education and Counseling for Familial Breast and/or Ovarian Cancer

Journal of Clinical Oncology, May 20, 2005

An efficient approach to education and counseling before BRCA1 and BRCA2 mutation testing is nece... more An efficient approach to education and counseling before BRCA1 and BRCA2 mutation testing is necessary for effective utilization of testing in the community. Education and counseling, when delivered individually, are limited by a shortage of trained health care providers as well as by financial and time constraints. The purpose of this study was to determine whether pretest education and counseling for breast cancer genetics in a group setting is equivalent to that provided on an individual basis. Patients and Methods One hundred forty-two patients at high risk for harboring a BRCA mutation were randomly assigned to group or individual education and counseling sessions. Group education was followed by brief individual counseling. Knowledge and Impact of Events Scales (IES) were administered at baseline and after education and counseling and at 1 week and 3, 6, and 12 months. Satisfaction with education and counseling was measured at completion of the session. Preferred method of education and counseling was solicited at 3 months. Results There was no difference in knowledge or IES scores between groups. When stratified by genetic test results, knowledge scores showed no difference. Regardless of group, post-test IES scores in patients with positive results were higher than patients with negative or uninformative results but returned to baseline by 12 months. Participants were equally satisfied with either method they were assigned. Significantly more time was spent per patient in individual sessions (1.25 hours) than in group education (0.74 hours). Conclusion Our data suggest that group education and counseling may confer similar benefits compared with traditional individual sessions. Additional investigation of this approach in larger numbers of patients is warranted.

Research paper thumbnail of Survey of Nursing Integration of Genomics Into Nursing Practice

Journal of Nursing Scholarship, Dec 1, 2012

Purpose-Translating clinically valid genomic discoveries into practice is hinged not only on tech... more Purpose-Translating clinically valid genomic discoveries into practice is hinged not only on technologic advances, but also on nurses-the largest global contingent of health providersacquiring 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. Design-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. Methods-Results were tabulated and analyzed using descriptive statistical techniques. Findings-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.

Research paper thumbnail of Inherited predisposition to malignant mesothelioma (MM) due to mutations in DNA repair genes

Journal of Clinical Oncology, May 20, 2018

8504Background: Identifying the profile of DNA repair genes predisposing to MM will enable treatm... more 8504Background: Identifying the profile of DNA repair genes predisposing to MM will enable treatment options for patients (pts) and risk assessment for their families. Methods: In this prospective study of the natural history of MM (NCT01950572) we enrolled 239 consecutive pts independent of site of disease, family history of cancer, age at diagnosis, ethnicity, or asbestos exposure. Germline DNA was sequenced for all 239 pts, identifying mutations of all classes in 73 DNA repair genes. Tumor DNA from 12 pts with germline BAP1 mutations was evaluated by whole exome sequencing. Results: Of the 239 pts, 29 (12%) carried a pathogenic germline mutation in a DNA repair gene: BAP1 (N = 17 pts), CHEK2 (N = 5), PALB2 (N = 2), and BRCA2, MLH1, POT1, TP53, and MRE11A (N = 1 each). Pts with mutations were more likely to be female (P = 0.02) and to have been diagnosed with another cancer (P = 0.009). Pts with germline mutations were more likely to have a 1o relative with a diagnosis of MM (P < 0.0001), melanoma (P = ...

Research paper thumbnail of BRCA2 germline mutations in male breast cancer cases and breast cancer families

Nature Genetics, May 1, 1996