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Advances in Genomic Nursing: Implications for Nursing Education, Practice and...
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Advances in Genomic Nursing: Implications for Nursing Education, Practice and Research

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Technologies and Resources for Genetics".

Deadline for manuscript submissions: closed (20 February 2024) | Viewed by 10383

Special Issue Editor

Dr. Sivia Barnoy

E-Mail Website
Guest Editor
1. Chair Nursing Department, School of Health Professions, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv 69978, Israel
2. School of Health Professions, Tel Aviv University, Tel Aviv 69978, Israel
Interests: genetic/genomic nursing; disclosure of genetic information in families; cancer genomics

Special Issue Information

Dear Colleagues,

Completing the human genome project caused a breakthrough and the development of diagnostic, research, and treatment methods that rely on genetic knowledge. These advances impact the healthcare system and the nursing profession globally. Innovations in genetics and genomics affect nursing on all levels, regardless of education, role, or area of expertise. Today, nurses need to use genetic knowledge to understand the underlying causes of health conditions and how they can be treated or prevented. Adopting genomic healthcare demands a well-equipped workforce that can inform, educate, and treat individuals living with genetic-based conditions. Nurses have a critical role to play in bringing the benefits of genetics and genomics to everyday healthcare.

This Special Issue will focus on advances in genetics and genomics nursing on a broad spectrum of research, education, and practice. In this Special Issue, we aim to include studies and reports on clinical genomics, genetic/genomic education, molecular and epigenetic studies, psychosocial aspects of genomics, clinical and educational features, and the relationship between molecular/epigenetic biomarkers and symptoms/psychological variables. All should emphasize the impact on nursing practice, education, and the nurse’s role.

You may choose our Joint Special Issue in Healthcare.

Dr. Sivia Barnoy
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • genetics and genomics
  • nursing
  • genetic information
  • genetic/genomic education
  • genetic counseling
  • cancer genomics
  • epigenetics
  • behavioral studies

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Published Papers (4 papers)

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Research

12 pages, 316 KiB  
Article
Variability of DNA Repair and Oxidative Stress Genes Associated with Worst Pain in Breast Cancer Survivors on Aromatase Inhibitors
by Monica A. Wagner, Theresa A. Koleck, Alex Conway, Catherine M. Bender and Yvette P. Conley
Genes 2023, 14(11), 2031; https://doi.org/10.3390/genes14112031 - 31 Oct 2023
Viewed by 1630
Abstract
Pain is a problem affecting women with breast cancer (HR+BrCa) receiving aromatase inhibitor (AI) therapy. We investigated the relationship between single-nucleotide polymorphisms (SNPs) in DNA repair and oxidative stress genes and perceived worst pain after 6 months of AI therapy. We explored 39 [...] Read more.
Pain is a problem affecting women with breast cancer (HR+BrCa) receiving aromatase inhibitor (AI) therapy. We investigated the relationship between single-nucleotide polymorphisms (SNPs) in DNA repair and oxidative stress genes and perceived worst pain after 6 months of AI therapy. We explored 39 SNPs in genes involved in DNA repair (ERCC2, ERCC3, ERCC5, and PARP1) and oxidative stress (CAT, GPX1, SEPP1, SOD1, and SOD2) in women with HR+BrCa receiving adjuvant therapy (AI ± chemotherapy; n = 138). Pain was assessed via the Brief Pain Inventory. Hurdle regression was used to evaluate the relationship between each associated allele and (1) the probability of pain and (2) the severity of worst pain. ERCC2rs50872 and ERCC5rs11069498 were associated with the probability of pain and had a significant genetic risk score (GRS) model (p = 0.003). ERCC2rs50872, ERCC5rs11069498, ERCC5rs4771436, ERCC5rs4150360, PARP1rs3219058, and SEPP1rs230819 were associated with the severity of worst pain, with a significant GRS model (conditional mean estimate = 0.45; 95% CI = 0.29, 0.60; p < 0.001). These results suggest DNA repair and oxidative stress pathways may play a role in the probability of pain and the severity of worst pain. As healthcare delivery moves towards the model of precision healthcare, nurses may, in the future, be able to use these results to tailor patient care based on GRS. Full article
(This article belongs to the Special Issue Advances in Genomic Nursing: Implications for Nursing Education, Practice and Research)
27 pages, 1843 KiB  
Article
Current State of Genomics in Nursing: A Scoping Review of Healthcare Provider Oriented (Clinical and Educational) Outcomes (2012–2022)
by Joanne Thomas, Jordan Keels, Kathleen A. Calzone, Laurie Badzek, Sarah Dewell, Christine Patch, Emma T. Tonkin and Andrew A. Dwyer
Genes 2023, 14(11), 2013; https://doi.org/10.3390/genes14112013 - 27 Oct 2023
Cited by 27 | Viewed by 4589
Abstract
In the 20 years since the initial sequencing of the human genome, genomics has become increasingly relevant to nursing. We sought to chart the current state of genomics in nursing by conducting a systematic scoping review of the literature in four databases (2012–2022). [...] Read more.
In the 20 years since the initial sequencing of the human genome, genomics has become increasingly relevant to nursing. We sought to chart the current state of genomics in nursing by conducting a systematic scoping review of the literature in four databases (2012–2022). The included articles were categorized according to the Cochrane Collaboration outcome domains/sub-domains, and thematic analysis was employed to identify key topical areas to summarize the state of the science. Of 8532 retrieved articles, we identified 232 eligible articles. The articles primarily reported descriptive studies from the United States and other high-income countries (191/232, 82%). More than half (126/232, 54.3%) aligned with the “healthcare provider oriented outcomes” outcome domain. Three times as many articles related to the “knowledge and understanding” sub-domain compared to the “consultation process” subdomain (96 vs. 30). Five key areas of focus were identified, including “nursing practice” (50/126, 40%), “genetic counseling and screening” (29/126, 23%), “specialist nursing” (21/126, 17%), “nurse preparatory education” (17/126, 13%), and “pharmacogenomics” (9/126, 7%). Only 42/126 (33%) articles reported interventional studies. To further integrate genomics into nursing, study findings indicate there is a need to move beyond descriptive work on knowledge and understanding to focus on interventional studies and implementation of genomics into nursing practice. Full article
(This article belongs to the Special Issue Advances in Genomic Nursing: Implications for Nursing Education, Practice and Research)
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11 pages, 827 KiB  
Article
Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer
by Jennifer Thalita Targino dos Santos, Reginaldo Cruz Alves Rosa, Alison Luis Eburneo Pereira, Alan Vinicius Assunção-Luiz, Bruna Tavares Bacalá, Victor Evangelista de Faria Ferraz and Milena Flória
Genes 2023, 14(11), 1999; https://doi.org/10.3390/genes14111999 - 26 Oct 2023
Viewed by 1499
Abstract
Endometrial cancer (EC) is a prevalent malignancy in women, and those who are proficient in the DNA mismatch repair (pMMR) pathway may have a family history (FH) that meets the criteria for a hereditary neoplastic condition (HNS). This study aimed to estimate the [...] Read more.
Endometrial cancer (EC) is a prevalent malignancy in women, and those who are proficient in the DNA mismatch repair (pMMR) pathway may have a family history (FH) that meets the criteria for a hereditary neoplastic condition (HNS). This study aimed to estimate the risk of HNS in women with pMMR endometrial tumors by analyzing their FH. To achieve this, we collaborated with a primary study and collected FH information by telephone. The final sample comprised 42 women who responded to the Primary Screening Questionnaire. Their family pedigrees were drawn and categorized according to internationally standardized criteria for the risk of HNS. Results showed that 26 women (61%) were found to be at risk for HNS, with Bethesda criteria being met by 23%, Amsterdam criteria by 15%, and 4% met the attenuated familial adenomatous polyposis criteria. Our results emphasize the importance of FH and the need to encourage healthcare professionals to collect and document FH more frequently, even if it is self-reported. By identifying individuals with HNS, we can improve their outcomes and reduce the burden of cancer in families with a predisposition to cancer. Full article
(This article belongs to the Special Issue Advances in Genomic Nursing: Implications for Nursing Education, Practice and Research)
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19 pages, 1143 KiB  
Article
Racial and Ethnic Disparities in Genomic Healthcare Utilization, Patient Activation, and Intrafamilial Communication of Risk among Females Tested for BRCA Variants: A Mixed Methods Study
by Sharlene Hesse-Biber, Memnun Seven, Hannah Shea, Madeline Heaney and Andrew A. Dwyer
Genes 2023, 14(7), 1450; https://doi.org/10.3390/genes14071450 - 15 Jul 2023
Cited by 9 | Viewed by 2047
Abstract
This study aimed to gain a deeper understanding of genomic healthcare utilization, patient activation, and intrafamilial risk communication among racially and ethnically diverse individuals tested for BRCA variants. We employed an explanatory, sequential, mixed-methods study guided by the Theory of Planned Behavior. Participants [...] Read more.
This study aimed to gain a deeper understanding of genomic healthcare utilization, patient activation, and intrafamilial risk communication among racially and ethnically diverse individuals tested for BRCA variants. We employed an explanatory, sequential, mixed-methods study guided by the Theory of Planned Behavior. Participants completed an online survey, including sociodemographic, medical history, and several validated instruments. A subset of participants participated in in-depth, semi-structured interviews. A total of 242 women were included in the quantitative analyses. The majority of survey participants identified as non-Hispanic white (NHW) (n = 197, 81.4%) while 45/242 (18.5%) identified as black, Indigenous, and people of color (BIPOC). The NHW participants were more likely to communicate genetic test results with healthcare providers, family, and friends than BIPOC participants (p < 0.05). BIPOC participants had lower satisfaction with testing decisions and significantly higher ratings of personal discrimination, fatalism, resilience, uncertainty, and lower patient activation scores (p < 0.05). Participants with higher education, greater satisfaction with testing decisions, and lower resilience are more likely to communicate BRCA test results with family members through the mediating effect of patient activation. Bridging disparities to ensure that genomic healthcare benefits all people may demand theory-driven, multi-level interventions targeting the individual, interpersonal, and healthcare system levels. Full article
(This article belongs to the Special Issue Advances in Genomic Nursing: Implications for Nursing Education, Practice and Research)
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