Transcript Human Genome Research: Preparing for Personalized Medicine

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
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.
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.
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.
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.
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
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.
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.
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 at large
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.
Essential Nursing Competencies and
Curricula Guidelines for Genetics and
Genomics
• Advocate for the rights of all clients for
autonomous, informed genetic-and genomicrelated 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
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.
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.”
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/
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.
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
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
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.
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
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
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.
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