1 Copyright © 2012 by Mosby, an imprint of Elsevier Inc. Copyright © 2008 by Mosby, Inc., an affiliate of Elsevier Inc. Chapter 11 Genomics in Public Health Nursing

2 Copyright © 2012 by Mosby, an imprint of Elsevier Inc. Copyright © 2008 by Mosby, Inc., an affiliate of Elsevier Inc. Objectives 1. Define key terms related to genetics and genomics. 2. Discuss the history of genomics and its integration into public health and nursing. 3. Describe the relationship between genomics, genetics, and nursing.

3 Copyright © 2012 by Mosby, an imprint of Elsevier Inc. Copyright © 2008 by Mosby, Inc., an affiliate of Elsevier Inc. Objectives, Cont’d 4. Explain the core competencies related to genomics that nurses and selected other public health professionals should integrate related into their practice. 5. Describe at least three potential implications on patients, families, and communities of persons knowing their genetic information.

4 Copyright © 2012 by Mosby, an imprint of Elsevier Inc. Copyright © 2008 by Mosby, Inc., an affiliate of Elsevier Inc. The Human Genome  Genetics – the study of the function and effect of single genes that are inherited by children from their parents.  Genomics – the study of individual genes in order to understand the structure of the genome, including the mapping of genes and sequencing the DNA.  Every nurse needs to rapidly become knowledgeable about genetics and genomics and their effects on populations.

5 Copyright © 2012 by Mosby, an imprint of Elsevier Inc. Copyright © 2008 by Mosby, Inc., an affiliate of Elsevier Inc. Brief History  Gregor Mendel, Charles Darwin, and Francis Galton  1953: structure of DNA identified  1988 to 2003: Human Genome Project (HGP)  All humans are 99.9% identical at the DNA level  Nearly 25,000 genes make up the human genome

6 Copyright © 2012 by Mosby, an imprint of Elsevier Inc. Copyright © 2008 by Mosby, Inc., an affiliate of Elsevier Inc. DNA Definitions  DNA  Genes  Chromosomes  DNA replication  Four bases of DNA  Mutations  DNA repair

7 Copyright © 2012 by Mosby, an imprint of Elsevier Inc. Copyright © 2008 by Mosby, Inc., an affiliate of Elsevier Inc. Genetic and DNA Testing  Evaluate >1600 genetic disorders  First used in the late 1970s  Indications for testing:  Predicting development of genetic disorders  Screening populations  Confirming clinical diagnosis  Prenatal testing  Development of individualized medical treatment

8 Copyright © 2012 by Mosby, an imprint of Elsevier Inc. Copyright © 2008 by Mosby, Inc., an affiliate of Elsevier Inc. Case Studies  K.N.: 42 year-old mother of three daughters (16, 18, and 22 years of age) with extensive family history of ovarian cancer  Sickle cell anemia

9 Copyright © 2012 by Mosby, an imprint of Elsevier Inc. Copyright © 2008 by Mosby, Inc., an affiliate of Elsevier Inc. Current Issues  Importance of family medical history  Providing appropriate support and education regarding genetic risk factors  Multifactorial influences  Multifactorial diseases

10 Copyright © 2012 by Mosby, an imprint of Elsevier Inc. Copyright © 2008 by Mosby, Inc., an affiliate of Elsevier Inc. Ethical and Legal Considerations  Genetic Information Nondiscrimination Act (GINA) (Nov. 2009)  Designed to prohibit the improper use of genetic information in health insurance and employment

11 Copyright © 2012 by Mosby, an imprint of Elsevier Inc. Copyright © 2008 by Mosby, Inc., an affiliate of Elsevier Inc. Personalized Health Care  Goal: to improve the safety, quality, and effectiveness of health care for every patient in the United States  Genomics will enable medicine to be tailored to each person’s needs

12 Copyright © 2012 by Mosby, an imprint of Elsevier Inc. Copyright © 2008 by Mosby, Inc., an affiliate of Elsevier Inc. Genomic Competencies for PH Workforce  Public health workers should be able to:  Demonstrate basic knowledge of the role that genomics play in the development of disease  Identify limits of his/her genomic expertise  Make appropriate referrals to those with more genomic expertise  NCHPEG core principles in genetics

13 Copyright © 2012 by Mosby, an imprint of Elsevier Inc. Copyright © 2008 by Mosby, Inc., an affiliate of Elsevier Inc. Incorporating Genomics and Genetics into PHN Professional Practice Domain Identification Referral Provision of Education, Care, and Support

14 Copyright © 2012 by Mosby, an imprint of Elsevier Inc. Copyright © 2008 by Mosby, Inc., an affiliate of Elsevier Inc. Professional Practice Domain  The RN will:  Demonstrate understanding of genomics  Elicit family health history  Construct a pedigree from family health history  Collect histories that consider genetic, environmental, and genomic influences and risk factors  Critically analyze the history and physical assessment  Assess patients’ knowledge regarding genomics  Develop plan of care that incorporates genomics

15 Copyright © 2012 by Mosby, an imprint of Elsevier Inc. Copyright © 2008 by Mosby, Inc., an affiliate of Elsevier Inc. Identification  Identifies patients who may benefit from specific genetic and genomic information and/or services  Identifies genetic and genomic information, resources, services, and /or technologies specific to given patients  Identifies ethical, ethnic/ancestral, cultural, religious, legal, fiscal, and societal issues related to genetics and genomics  Defines issues that undermine the rights of all patients for genetic- and genomic-related decision- making

16 Copyright © 2012 by Mosby, an imprint of Elsevier Inc. Copyright © 2008 by Mosby, Inc., an affiliate of Elsevier Inc. Referral  Facilitates referral for specialized genetic and genomic services for patients as needed

17 Copyright © 2012 by Mosby, an imprint of Elsevier Inc. Copyright © 2008 by Mosby, Inc., an affiliate of Elsevier Inc. Provision of Education, Care, and Support  Provides patients with interpretation of selective genetic and genomic information or services  Provides patients with genetic and genomic information, resources, services and/or technologies that facilitate decision-making  Uses health promotion/disease prevention practices that include genetic and genomic factors

18 Copyright © 2012 by Mosby, an imprint of Elsevier Inc. Copyright © 2008 by Mosby, Inc., an affiliate of Elsevier Inc. The Future  PHN must be able to incorporate genetics/genomics knowledge into practice.  Especially related to changing lifestyle behaviors and to improve health and reduce burden of those with genetic diseases  Future research can examine the interactions between genetic susceptibility, environment, and lifestyle and their effect on susceptibility to chronic illness.