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Genetics and Genomics

Genetics and genomics understanding is advancing rapidly and is changing how human health and disease are conceptualized, diagnosed, and managed. Nurses need to be equipped to support genomics innovations and the related transformation of healthcare. Thus, we must prepare nurses to integrate genetics and genomics into their practice so they may lead changes that advance health in this era of personalized healthcare - a tailored and targeted approach to healthcare that uses information about an individual’s genes and environment to prevent, diagnose, or treat disease. Our goal is to provide a foundation of skills in genetics and genomics to empower nurses to use genetics and genomics within their practice to improve patient care. This project was supported by the Nurse Support Program II (NSP II) is funded by the Health Services Cost Review Commission (HSCRC) and administered by Maryland Higher Education Commission (MHEC). For questions about this project, please contact Nicole Mollenkopf at SON-Genetics@jhu.edu.
 

Curriculum Evaluation Tools

Based on our review of the AACN Essentials, as well as the genetics and genomics nursing competencies developed by nursing professional societies, we recognize nursing students who are ready to practice upon graduation will require competency in genetics and genomics. An evaluation of genetics and genomics content based on these competencies for prelicensure nursing programs and advanced nursing programs is necessary to determine the breadth of genetics content covered and appropriate leveling both within and across programs.  We have created a toolkit based on available genetics and genomics competencies (links below) to allow course instructors to evaluate the depth and breadth of genetics and genomics concepts within individual courses, and a method for programs to evaluate the overall inclusion of genetics and genomics in nursing education at the level individual programs. You can find the full toolkit below (pdf) and accompanying excel spreadsheets for tracking course and program results.

Education and Resources

This section contains resources and information in genetics and genomics core content areas, as well as contemporary topics of interest for nurses.

WEBINAR SERIES: Conversations in Genetics

  • Genetics of the Newborn Screen
    Our panel covers your questions about newborn screening in the state of Maryland. They discuss the purpose and process of newborn screening to identify inborn errors of metabolism and personal patient experience in receiving positive screening results. The discussion centers around the important roles nurses have in identification and management of families and infants from pre-test to results.
     
     
  • What We Say Matters
    Our panel addresses questions about discussing family history and genetic issues with patients and the public. They discuss best practices for how nurses and other address sensitive issues, strong emotions, and cultural differences related to genetics. The panel also discusses how to incorporate genetic risk and family resilience in your health assessments.
     
     
  • Engaging Nurses in Genetics
    The Future is Here. Drs Patch and Metcalfe discuss practical methods and guidance to empower nurses to use genetics and genomics in real-world care.
     
     
  • Using Genetics in Clinical Cardiology Practice
    Drs Jodie Ingles and Chris Semsarian discuss the integration of genetics into clinical cardiology practice.
     
     
  • Demystifying Genetic Testing
    In this webinar, Genetic Counselor, Weiiyi Mu, discussed the genetic testing and how to read and interpret genetic laboratory reports.
     
     
  • Using Genetics in Oncology Practice
    Genetics and genomics knowledge is crucial to understanding cancer development, diagnosis, prognosis, and treatment. This webinar presents basic concepts of genetics in cancer development, treatment, and counseling as an interprofessional team of nurse, genetic counselor, and oncologist.
     
     

Instructional Materials

The Genetics and Genomics in Nursing Community of Practice has developed sample genetics and genomics educational materials that are leveled across programs and can be used by nursing educators to educate students of all levels on this important topic.

The CoP has developed genetics and genomics instructional materials designed to educate nursing students and nurses. These materials are focused on two genetic diseases: Sickle Cell Disease and Cystic Fibrosis. Each topic has an overview that describes how the materials could be used. The educational materials are slightly different for each topic but include items such as: glossary, patient cases with instructor materials, power point lecture, video recordings. These materials can be adapted by instructors for educational purposes for schools of nursing or nursing departments in acute care or community settings. To access the materials, please click on either Sickle Cell Disease, Cystic Fibrosis or both below.

  • Webinar

    Webinar: In this webinar, members of the Genetics and Genomics in Nursing Community of Practice (CoP) provide education on two genetic  diseases: Sickle Cell Disease and Cystic Fibrosis. They will also review educational materials developed by the Genetics and Genomics in Nursing CoP that are freely available for the purpose of educating nursing students and nurses throughout Maryland.

     
  • Sickle Cell Disease

    Sickle cell disease (SCD) is a group of inherited disorders which affects the hemoglobin molecule of red blood cells. In SCD, the red blood cells become sickle-shaped, hard, and sticky, instead of the round and flexible shape of a healthy red blood cell. As a result, these sickle cells can obstruct blood flow, causing vaso-occlusive complications including tissue ischemia, severe pain, infections, strokes, and organ damage. These cells also have a shorter life span, leading to anemia. People living with SCD require complex care across the lifespan to prevent and manage acute and chronic complications. Nurses can collaborate with patients, families and an interprofessional health care team across settings to promote best practices and improve the quality of patient care and outcomes.  

    This module is designed to provide pre-licensure nursing students with the tools to understand the best practices of SCD management, with an emphasis on recognizing the influence of genetics on human health and healthcare needs.  

    To gain access to these instructional materials please read the end-user licensing agreement and complete the form below.  

    View the end-user licensing agreement

     
     
     
     
     
     
     
     
     
     
     
     
     

     

  • Cystic Fibrosis

    Cystic fibrosis (CF) is a severe, complex, hereditary disease that affects approximately 30,000 children and adults in the United States. One in 31 Americans carries the autosomal recessive gene for CF, which arises from a mutation in coding for the cystic fibrosis transmembrane regulator protein (CFTR). This genetic mutational error results in the complex, multisystem disease of CF, which is characterized by malabsorption and a state of chronic lung obstruction, inflammation, and infection. The survival age has increased substantially over the past two decades because of advances in the management of this disorder, and this increase is expected to continue given new therapies directed at the basic genetic defect. It is estimated that in 10 years, 70% of Americans with CF will be adults. Given the growing number of adults with CF and continued improvements in clinical care and new highly, effective therapies, nurses should be familiar with the underlying cause of CF, its treatments and basic care guidelines, and the changing face of the disease.

    This module is designed to provide pre-licensure nursing students with the tools to understand the best practices of Cystic Fibrosis management, with an emphasis on recognizing the influence of genetics on human health and healthcare needs.  

    To gain access to these instructional materials please read the end-user licensing agreement and complete the form below.  

    View the end-user licensing agreement

     
     
     
     
     
     
     
     
     
     
     
     
     

     

Genetics and Genomics WEB-BASED Resources

Genetics and genomics in Nursing Community of Practice (GGNCOP)

A community of practice (CoP) has been described as a “group of people who share a passion for something that they know how to do and who interact regularly to learn how to do it better”. Our CoP is comprised of nurses, nursing students and other healthcare professionals interested in expanding the capacity of nurses in genetics and genomics across the state of Maryland. The CoP works collaboratively to generate innovative methods for outreach in this area across Maryland.

  • GGNCOP Accomplishments
    • Development of two educational modules focused on teaching genetics to nursing students and nurses. The modules focus on two genetic disorders: Cystic Fibrosis and Sickle Cell Disease.
    • Compiled a curated Genetics and Genomics Web-based Resource list., which contains a wide variety of resources to assist nurses in finding genetic and genomic clinical practice information.
    • All GGNCoP materials can be found in the “Education and Resource” section of this page.
  • Membership
    • The CoP boasts membership from Nursing Schools across the state of Maryland. Nurses, nursing students and other supporters of spreading genetics and genomics knowledge throughout the nursing profession are invited to join. Please email SON-Genetics@jhu.edu to become a member!

      Email to become a member
       
    • The CoP also maintains an online forum where you can communicate with others interested in genetics in nursing.

      To join, please visit here.