Evolving Nursing Roles for the Future: The Provision of Genetic and Genomic-Based Nursing Care Throughout the Health Car

1. Evolving Nursing Roles for the Future: The Provision of Genetic and Genomic-Based Nursing Care Throughout the Health Care Continuum Dale Halsey Lea, MPH, RN, CGC,FAAN Ellie Mulcahy, RNC Elizabeth Plummer, RN

2. Learning Objectives • Describe how genetics and genomics will increasingly be included in healthcare • Define genomic healthcare. • Describe the Essentials of Genetic and Genomic Nursing: Competencies, Curricula Guidelines, and Outcome Indicators. • List two genetic and genomic educational resources for nurses.

3. Yesterday’s Genetics • Chromosomes – units of heredity inside cells – first discovered in the late 1800’s. • Early 1900’s – inherited diseases first linked to chromosomes. • 1950’s – 1980’s – genetic tests for genetic conditions affecting children such as cystic fibrosis, Down syndrome and Duchenne muscular dystrophy were developed.

4. Yesterday’s Genetics • Genetic testing used to make or confirm a diagnosis, and to screen newborns for conditions such as PKU so early interventions and treatments could be administered. • Very few research laboratories capable of conducting genetic testing, and few commercial genetic testing laboratories.

5. Today’s Genetics and Genomics • NHGRI lead the Human Genome Project for the National Institutes of Health. • The full human genome sequence was completed in April 2003. • NHGRI now moves forward into the genomic era with research aimed at improving health and fighting disease.

6. Genetics and Genomics • Genetics – the study of individual genes and their impact on relatively rare, single gene disorders. • Genomics – the study of all genes in the human genome together, including their interactions with each other, the environment, and the influence of other psychosocial and cultural factors. • http://www.genome.gov/17517037

7. Personalized Medicine • Pre-genome era: healthcare providers used a “one size fits all” approach to treating individuals. • Post-genome era: increasingly healthcare providers will be able to use genomic information to tailor treatments to the individual, and personalize their care.

8. Genomic Healthcare: What it Means for Nurses • Increasing use of genetic and genomic technologies to screen, diagnose and treat rare and common diseases. • Nurses must be knowledgeable and competent in providing in genetic and genomic-based healthcare.

9. Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics • Established by Consensus Panel in 2005 • Developed on the basis of: • Results of a peer-reviewed published work reporting practice-based genetic and genomic competencies, guidelines and recommendations. • Input from nurse representatives to the National Coalition for Health Professional Education in Genetics (NCHPEG) in January 2005 • Public comments from the nursing community atlarge

10. Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics • Professional Responsibilities for all registered nurses: • Incorporate genetic and genomic technologies and information into registered nurse practice. • 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.

11. Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics • Advocate for the rights of all clients for autonomous, informed genetic-and genomic-related decision-making and voluntary action. • Professional Practice Domain: • Nursing Assessment: Applying/Integrating Genetic and Genomic Knowledge • Identification – clients, genomic information, ethical issues of concern • Referral Activities – genetic counseling • Provision of Education, Care, and Support

12. Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics • Nursing Assessment: Applying/Integrating Genetic and Genomic Knowledge • Example: • Demonstrates ability to elicit a minimum of three-generation family history information. • Constructs a pedigree from collected family history using standardized symbols and terminology. • Collects personal health, and developmental histories that consider genetic, environmental, and genomic influences and risks.

13. U.S. Surgeon General’s Family History Initiative • “Tracing the illnesses suffered by your parents, grandparents, and other blood relatives can help your doctor predict the disorders to which you may be at risk and take action to keep you and your family healthy.”

14. U.S. Surgeon General’s Family History Initiative • Because family health history is such a powerful screening tool, the Surgeon General has created a new computerized tool to help make it fun and easy for anyone to create a sophisticated portrait of their family's health. • https://familyhistory.hhs.gov/

15. Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics • Identification – identifies clients who may benefit from specific genetic and genomic information and/or services based on assessment data. • Referral Activities – facilitates referrals for specialized genetic and genomic services for clients as needed. • Provision of Education, Care, and Support – provide clients with interpretation of selective genetic and genomic information or services.

16. American Association of Colleges of Nursing • The American Association of Colleges of Nursing (AACN) is working to finalize their update of the Master’s Essentials which do include genetics/genomics content. It is expected that the Essentials will be endorsed by Spring 2011. “The master’s-prepared nurse integrates scientific findings from nursing, biopsychosocial fields, genetics, public health, quality improvement, health economics, translational science, and organizational sciences for the continual improvement of nursing care at the unit, clinic, home, or program level.” • http://www.aacn.nche.edu/Education/pdf/DraftMastEssentials.pdf

17. Integrating Genetics and Genomics into Nursing Curricula - Nursing Programs In Maine • Southern Maine Community College • Engaged Maine Genetics Program nursing staff to present a half-day symposium on genetics and genomics and implications for nurses to nursing faculty and students • University of Maine at Orono • Faculty Champion • Exploring student internships with Maine Genetics Program, Family Health and Chronic Disease Programs

18. Genetics and Genomics Tomorrow • In the future: • Genetic testing will be used to scan all of a person’s genetic material, so that disease risk variants can be identified and early intervention and treatment can be planned. • The cost of testing an individual’s entire genome will be less than $1,000. • We will live in a time of “personalized medicine,” when many treatments for medical conditions will be chosen based upon what genetic testing indicates about a person’s specific genetic makeup.

19. Genetics/Genomics Competency Center – G2C2 • G2C2, the Genetics/Genomics Competency Center for Education, makes freely available an open source repository of curricular materials and resources designed to provide nursing and physician assistant educators the tools with which to prepare their students to meet the discipline specific competencies in this area of health care. • http://www.g-2-c-2.org/blocks/pla/index.php

20. Genetic and Genomic Resources for Patients and Health Professionals • National Human Genome Research Institute • Genetics and Genomics for Patients and the Public http://www.genome.gov/19016903 • Genetics and Genomics for Health Professionals http://www.genome.gov/27527599

21. Summary • The pace of genomic research is transforming our understanding of the role of genetics and genomics in health and disease. • It is now known that genomics plays a role in 9 out the 10 leading causes of death. • All human beings are 99.9 percent identical in their genetic makeup. • Differences in the remaining 0.1% hold important clues about the causes of both health and disease.

22. Implications for Nurses • Nurses will be on the frontline in communicating genetic and genomic information to patients, families and communities. • All nurses need to be fluent in the language of genetics and genomics so they can provide effective nursing care. • The Essential Nursing Competencies in Genetics and Genomics provide a framework for nurses to practice genomic health care. • http://www.genome.gov/17517037