Genomic Healthcare: A New Era in

Healthcare for Pediatric Nurses

Dale Halsey Lea, MPH, RN,

CGC,FAAN
National Human Genome Research
Institute

Learning Objectives
• Define genomic healthcare.
• Describe the role of genes in health and
disease.
• Describe three new genomic research efforts.
• Discuss the nursing role in family history
assessment.
• List two new ways that genetic testing is being
used in pediatric practice.
• Identify ethical issues of concern with regard to
genomic healthcare.

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 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.
• !950’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.

2
 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

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 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 Pediatric 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.

4
 Essential Nursing Competencies and
Curricula Guidelines for Genetics and
Genomics
• Established by Consensus Panel in 2005
• 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 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

5
 Understanding Basic Genetics: A
First Step
• A gene is the basic physical and functional unit of heredity.
• Genes, which are made up of DNA, act as instructions to make
molecules called proteins.

• Humans have between 20,000 and 25,000 genes

Understanding Basic Genetics: A First

Step
• DNA, or deoxyribonucleic acid, is the hereditary material in humans
and almost all other organisms.
• Nearly every cell in a person’s body has the same DNA. Most DNA
is located in the cell nucleus.
• The information in DNA is stored as a code made up of four
chemical bases.

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 DNA - RNA - Protein
• The journey from gene to protein is complex and tightly controlled
within each cell. It consists of two major steps: transcription and
translation.

Family History Assessment

• Essential Nursing Competencies:
– Demonstrates ability to elicit a minimum of
three-generation family health history
information.
– Constructs a pedigree from collected family
history information using standardized
symbols and terminology.

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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
• To help focus attention on the importance of
family history, the U.S. Surgeon General in
cooperation with other agencies with the U.S.
Department of Health and Human Services has
launched a national public health campaign,
called the U.S. Surgeon General's Family
History Initiative, to encourage all American
families to learn more about their family health
history.

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U.S. Surgeon General’s Family History
Initiative
• HHS agencies involved in this project
include:
– National Human Genome Research Institute
(NHGRI) at the National Institutes of Health,
– Centers for Disease Control and Prevention
(CDC),
– the Agency for Healthcare Research and
Quality (AHRQ)
– Health Resources and Services
Administration (HRSA).

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/

9
 Family History Collection: Nursing
Roles
• Inform patients of the importance of family
history in health and disease.
• Introduce families to the Surgeon
General’s Family History Tool
• Assist with collection of family history from
families
• Construct 3-generation pedigree
• Refer families at risk for further evaluation
and counseling

Patterns of Inheritance in Families

• Autosomal Dominant
• Autosomal Recessive
• X-linked
• Mitochondrial

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Autosomal Dominant Inheritance

Autosomal Dominant Inheritance

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Autosomal Recessive Inheritance

Autosomal Recessive Inheritance

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 X-linked Inheritance

X-linked Inheritance
Pedigree Illustrating X-Linked Recessive Inheritance Pattern

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X-linked Inheritance

X-linked Inheritance

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 X-linked Inheritance

X-linked Inheritance

• X-linked dominant inheritance pedigree

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 Mitochondrial Inheritance
• Also known as maternal inheritance.
• Mitochondria are structures in each cell that convert
molecules into energy, and each contain a small amount
of DNA.
• Only egg cells contribute mitochondria to the developing
embryo.
• Only females can pass on mitochondrial conditions to
their children Mitochondrial disorders can appear in
every generation of a family and can affect both males
and females, but fathers do not pass mitochondrial traits
to their children.
• Example: Leber hereditary optic neuropathy (LHON) an
inherited form of vision loss.

Mitochondrial Inheritance

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 Case Example: Family History
Assessment
• Mrs. G provides you with this family history
during her son’s annual pediatric visit. Her sister
recently had a baby who was born with cystic
fibrosis (CF). She has questions about how this
happened in her family and what it means for
her and her husband when they have another
baby.

Case Example: Family History

Assessment
• Mr. and Mrs. N are planning to have children.
Mr. N tells you that he has a history of
Neurofibromatosis type 1, a condition
characterized by changes in skin coloring
(pigmentation) and the growth of tumors along
nerves in the skin, brain, and other parts of the
body. He says he has a mild case, but his sister
and father have serious tumors. He asks what
are the chances of his children having NF?

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Emerging Genetic and Genomic
Research
• Essential Nursing Competency:
Incorporate genetic and genomic
technologies and information into
registered nurse practice.

Human Genome Research

• NHGRI funds Large-Scale Genome Sequencing
capacity at several centers located in the U.S.
• The large-scale sequencing projects provide
critical genomic information that can be of
significant value to the scientific community.
• Sequencing centers are organized into a
research network, with oversight by NHGRI and
Scientific Advisors to the Program.

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 Cancer Genome Atlas (TCGA)
• TCGA is a comprehensive and coordinated effort to
accelerate understanding of the molecular basis of
cancer.
• Involves application of genome analysis technologies,
including large-scale genome sequencing.
• TCGA is a joint effort of the National Cancer Institute
(NCI) and the National Human Genome Research
Institute (NHGRI),
• Mission and Goal
– TCGA will assess the feasibility of a full-scale effort to
systematically explore the entire spectrum of genomic
changes involved in human cancer.
– The overarching goal of The Cancer Genome Atlas is
to improve our ability to diagnose, treat and prevent
cancer.

Office of Population Genomics

• Established to facilitate the application of
genomic knowledge to health.
• Promotes multi-disciplinary research in
epidemiology and genomics.
• Applies genomic technologies to existing
population and clinical studies.
• Develops new population resources for
investigation of genetic and environmental
contributions to complex diseases.

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 Office of Population Genomics
• Establishes research resources to identify
genes related to complex diseases and
their environmental modifiers.

• Examples research resources:

– Standardized genetic, environmental and
phenotypic data on meticulously
characterized and consented individuals.

Office of Population Genomics

Research Program Priorities
• The Genetic Association Information Network
(GAIN)
– Supports a series of Genome-Wide Association
Studies (GWAS) designed to identify specific points of
DNA variation associated with the occurrence of a
particular common disease.
• The Genes, Environment and Health Initiative
(GEI)
– Supports research that will lead to understanding of
genetic contributions and gene-environment
interactions in common disease.

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 Office of Population Genomics
Research Program Priorities
• Policy for Sharing of Data Obtained in NIH
Supported or Conducted Genome-Wide
Association Studies (GWAS):
– Developed following a public consultation
process with interested stakeholders, the
GWAS data-sharing policy will facilitate the
research community’s access to genotype
datasets from GWAS in a broad array of
disease areas.

Human Genome Clinical Research

• Clinical researchers at NIH are now poised
to inaugurate a new era in medicine.
• The new era of medicine
– One where a more profound understanding of
the biological basis of disease will pave the
way for more effective and personalized ways
to diagnose, treat and prevent illness.

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Human Genome Clinical Research
• Examples of disorders under study:
– Attention Deficit Hyperactivity Disorder
(ADHD)
– Various disorders of the immune system
– Holoprosencephaly – a common brain
malformation
– Alkaptonuria – a devastating joint disease in
adults
– Neurofibromatosis

Human Genome Clinical Research

• NHGRI Clinical Research and field work
spans a wide spectrum of populations:
– Columbians living in the Andes mountains;
– Old Order Amish in Lancaster County,
Pennsylvania;
– Large Italian-American family with ancestral
roots in a small village in southern Italy.

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Human Genome Clinical Research
• NHGRI clinical researchers have played a
key role in a number of important gene
discoveries:
– Identification of a gene that causes a kidney
disorder called Hartnup disease.
– Identification of genes responsible for
holoprosencephaly.

NHGRI Common Disease Gene

Research
• Currently two important human research
studies underway.
• Both studies are investigating common
disease genes and their role in causing
diseases such as heart disease, diabetes
and stroke.
• Both involve communicating genetic and
genomic risk information.

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 The ClinSeq Project
• Studying large-scale medical sequencing
in a clinical research setting.
• Specific regions of a research participants’
genome will be sequenced, and relevant
results returned to that person.
• Investigators will then look into the various
medical, technical, genetic counseling
issues that accompany the implementation
of this testing in the clinical setting.

ClinSeq Project
• Genome sequencing test may find changes in a
participant’s gene that cause or contribute to
disease.
• Participants may learn about changes in a gene
or genes that has caused symptoms of a
disease, or that they have variations that may
cause them to develop a disease in the future.
• Participants will be followed for a number of
years by researchers to learn about how
identified genes affect their health and
development of disease.

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 Multiplex Initiative
• A research project conducted by NHGRI
and NCI.
• Collaboration with the Group Health
Cooperative in Seattle, and Henry Ford
Health System in Detroit.
• Investigating the interest level of healthy,
young adults in receiving genetic testing
for eight common conditions.

Multiplex Initiative
• Genetic test will provide information about 15 different
genes that play a role in:
– Type 2 diabetes
– Coronary heart disease
– High blood cholesterol
– High blood pressure
– Osteoporosis
– Lung cancer
– Colorectal cancer
– Malignant melanoma
• Investigating how young adults who choose to take the
tests interpret and use the results in making their own
health care decisions in the future.

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 Multiplex Initiative
• As noted by NHGRI Scientific Director,
Eric Green, MD, PhD –
– “The Multiplex Initiative will provide insights
that will be key to advancing the concept of
personalized medicine.”

Genetic Testing
• Nursing Competency: Demonstrates an
understanding of the relationship of genetics to
health, prevention, screening, diagnostics,
prognostics, selection of treatment, and
monitoring of treatment effectiveness.

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 Genetic Testing
• Diagnostic genetic testing – identifies a genetic
condition or disease that is making or in the
future will make a person ill.
• Examples:
– Chromosome analysis to diagnose Down syndrome.
– Gene testing to diagnose Sickle Cell Anemia
– Gene testing for Achondroplasia, a disorder of bone
growth

Genetic Testing
• Predictive and presymptomatic genetic testing
• Examples:
– Gene testing for Huntington Disease
– Gene testing for hereditary breast and ovarian cancer
(BRCA1/BRCA2)
– Multiplex genetic testing to identify risk for common
diseases such as diabetes, heart disease, and stroke

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 Genetic Testing
• Carrier testing – tells people if they “carry” a
genetic change that can cause a disease.
• Carriers usually show no signs of the disease.
• Carriers can pass on the genetic variation to
their children, who may develop the disorder or
become carriers themselves.
• Examples:
– Cystic fibrosis
– Sickle cell anemia
– Tay-Sachs disease

Genetic Testing
• Prenatal testing – offered during pregnancy to
help identify fetuses that have certain diseases
such as spina bifida.

• Newborn screening – used to test babies one or

two days after birth to find out if they have
certain diseases known to cause problems with
health and development such as PKU.

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 Genetic Testing
• Pre-implantation genetic testing – is done in
conjunction with in vitro fertilization to determine
if embryos for implantation carry genes that
could cause disease such as Tay-Sachs
disease.

Genetic Testing
• Research genetic testing – helps scientists learn
more about how genes contribute to health and
disease, as well as develop gene-based
treatments.
• Examples:
– Genetic Analysis of Attention Deficit Hyperactivity
Disorder? NHGRI Research
– Genetic Analysis of Neural Tube and Orofacial Cleft
Defects in the Irish Population
– http://www.genome.gov/10004414

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 Genetic Testing
• Pharmacogenetic genetic testing –
– examines a person's genes to look at how
drugs would move through the body and be
broken down.
– The goal of pharmacogenetic testing is to
have drug treatments that are specific to each
person.

Genetic Testing
• Pharmacogenomic genetic testing –
– examines the inherited variations in genes
that dictate drug response, and
– explores the ways these variations can be
used to predict whether a patient will have a
good response to a drug, a bad response to a
drug, or no response at all.

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 Genetic Testing
Is there a difference between pharmacogenomics
and pharmacogenetics?
• Pharmacogenomics refers to the general study of all of
the many different genes that determine drug behavior.

• Pharmacogenetics refers to the study of inherited

differences (variation) in drug metabolism and response.
• The distinction between the two terms is considered
arbitrary, however, and now the two terms are used
interchangeably.

Personalized Medicine
• Personalized medicine has the potential to
transform healthcare through:
– earlier diagnoses,
– more effective prevention and treatment of
disease,
– avoidance of drug side effects.

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 Clinical Pharmacogenetics in
Pediatric Patients
• Transplantation – Clinical Effects of Drug Concentration
– Patients with the MDR1 (ABCB1) genotype require more
aggressive alternative treatment regimes when being weaned
from corticosteroid immunosuppressive therapy.

– Use of genetic testing to help predict which pediatric patients

may be weaned sooner from immunosuppressive steroid therapy
and which patients require more aggressive immunosuppressive
therapy when being weaned from steroids.

Clinical Pharmacogenetics in
Pediatric Patients
– Childhood Leukemia – Drug Response and Toxicity
– Acute Lymphoblastic Leukemia (ALL)
• Treatment with 6-mercaptopurine (6MP) is a key medication for
treatment of ALL.
• Thiopurine methyltransferase (TMPT) helps to metabolize 6MP
• Studies have shown that TMPT genotype or phenotype identifies
patients who are at risk for hemopoietic toxicity after thiopurine
therapy.
• For example, patients who have TMPT deficiency are at very high
risk of sever hematopoetic toxicity if treated with the conventional
doses of thiopurines
• Therefore there is great clinical benefit in determining an ALL
patient’s TMPT genotype before administering the treatment in all
children – more effective drug therapy and less potential toxicity for
patients

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Clinical Pharmacogenetics in
Pediatric Patients
– Asthma – most common chronic disorder in children
and adolescents, and leading cause of
hospitalizations in children.
– Albuterol (an inhaled B2 agonist) commonly used
treatment.
– Studies are now underway looking at how an asthma
patient’s genotype affects response to Albuterol, and
how doses can be modified based on genotype.

Clinical Pharmacogenetics in
Pediatric Patients
– Attention-deficit hyperactivity disorder (ADHD) – a
common childhood disruptive disorder, characterized
by age inappropriate levels of inattention,
hyperactivity and impulsivity.
– Studies are underway that look at children’s
genotypes to be able to predict medication tolerability
and side effects.
– Awareness of increased risk for particular side effects
may lead clinicians to choose medications that are
more likely to be tolerated long term, and avoid
exposing patients to drugs with high chance of poor
outcomes.

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 Clinical Pharmacogenetics in
Pediatric Patients
– Francis Collins’ Research in Progeria, a rapid aging
disease in children that results in eventual death
around 12 or 13.
– The disease results in a toxic protein that causes a
heart attack.
– Discovered a drug that may be beneficial. In studies
of mice, the drug completely cured the affected mice.
– Current clinical trials underway with 28 children.

Genetic Testing
• Direct-to-consumer genetic testing – a new
approach that allows people to order certain
genetic tests by sending in a sample of their
saliva or tissue to a laboratory.
• The laboratory returns results only to the
individual who sent in the sample.
• Often no healthcare provider is involved in the
process.

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 Genetic Testing
• Direct-to-consumer genetic testing – should
children have their genomes scanned?
– Proactive family project – earlier opportunities for
intervention and prevention?
– Informed consent?
– The DNA Innate Talent Test – testing children to
identify genetic traits for intelligence, emotional
quotient (EQ), athletic ability?

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.

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Teaching Patients and Families About
Genetic Testing: Nursing Roles
• The registered nurse:
– Provides clients with interpretation of selective
genetic and genomic information or services.
– Provides clients with credible, accurate, appropriate,
and current genetic and genomic information,
resources, services, and/or technologies that facilitate
decision-making.
– Uses genetic- and genomic-based interventions and
information to improve clients’ outcomes.
» Essential Nursing Competencies and
Curricula Guidelines for Genetics and Genomics, 2006

Teaching Patients and Families About

Genetic Testing: Nursing Roles
• Explain:
– what genetic testing is – genetic testing uses
laboratory methods to look at your genes.
– What the specific genetic test is that is being
recommended/offered.
– What will be learned about the client’s health from the
genetic testing (e.g. diagnosis, to guide treatment).
– How the genetic testing will be done.
– Describe safeguards that will protect the privacy of
the client’s test results.

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Teaching Patients and Families About
Genetic Testing: Nursing Roles
• Refer client for genetic counseling to get more
information about the genetic test.
• Provide resources to the client about where they
can learn more about genetic testing:
– National Human Genome Research Institute –
www.genome.gov/health
– Genetics Home Reference –
http://ghr.nlm.gov/medlineplus/genetictesting.html
– National Cancer Institute –
www.cancer.gov/cancertopics/UnderstandingCancer/
genetesting

Ethical, Legal, and Social

Issues in Genetics and
Genomics

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 Health Issues in Genetics and
Genomics
• Genomic research – designed to advance
understanding of the human genome and the
role of individual genes or groups of genes in
human health to improve the medical
community’s ability to treat and cure diseases.
• Genomic research – also raises questions about
how the information and technologies it yields
will affect standards of patient care.

Health Issues in Genetics and

Genomics
• Genetic testing and counseling, and gene
therapy raise difficult questions:
– Should health care providers tell patients that
they might be at high risk for developing an
illness because of their genetic makeup when
there is no effective treatment and cure?
– Does the nature of genetic information create
a need to revisit issues of informed consent
and other ethical questions in the use of
human subjects in genomic research?

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 Ethical Issues in Genetics and
Genomics
• NHGRI supports highly technical genomic
research that is rapidly advancing our
understanding of the human genome.
• New information is potentially beneficial to the
health of Americans, BUT it can also be
misused.
• Ethical, Legal and Social Issues (ELSI) Branch
of NHGRI informs the development of federal
guidelines, regulation and legislation to guard
against misuse of genetic information.

ELSI Health Issue Areas

• The Future of Genomic Medicine: Policy
Implications for Research and Medicine –
examination of core policy issues regarding the
expanding knowledge of human genomics and
translation of this information to improved health
care.

• Personalized Medicine: How the Human

Genome Era Will Usher in a Health Care
Revolution.

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 ELSI Health Issue Areas
• Direct-to-Consumer Marketing of Genetic
Tests – may increase public awareness
but there may also be some risks in
adopting this strategy.
• A Government Accountability Study (GAO)
concluded that direct-to-consumer genetic
tests pass on “misleading” information.

ELSI Health Issues

• Informed Consent – examines whether
new requirements for informed consent
are needed to protect subjects in research
studies on the human genome.
• Issues surrounding the use of genomic
information and technologies in non-health
care settings such as insurance,
employment, education, adoption.

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 ELSI ISSUES
• Privacy and Confidentiality of Genetic and
Genomic Information

– Many people are concerned about privacy and

confidentiality of genetic test results, especially from
insurers or employers.

Genetic Information
Nondiscrimination Act (GINA)
• Genetic Information Nondiscrimination Act (GINA)
• May 21,2008 — The President signed into GINA into
law.
• GINA protects Americans against discrimination based
on their genetic information when it comes to health
insurance and employment.
• The long-awaited measure, which has been debated in
Congress for 13 years, will pave the way for people to
take full advantage of the promise of personalized
medicine without fear of discrimination.

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What GINA Does and Does Not Do
• What GINA does - The law protects
people from discrimination by health
insurers and employers on the basis of
DNA information.
• What GINA does not do - The law does
not cover members of the military. In
addition, the law does not cover life
insurance, disability insurance and long-
term care insurance.

Other ELSI Issues

• The impact of genomics on concepts of race,
ethnicity, kinship and individual and group
identity.
• Implications for both individuals and society of
uncovering genomic contributions to human
traits and behaviors (e.g. cognition, mental
illness, aging).
• How different individuals, cultures and religious
traditions view the ethical boundaries for uses of
genomics.

42
 Genetic and Genomic Resources for
Patients and Health Professionals
• Genetics and Rare Diseases Information
Center (GARD)
– www.genome.gov/Health/GARD
– E-mail: gardinfo@nih.gov
– Toll-free phone: 1-888-205-2311
– TTY: 1-888-205-3223
– This free service provides information about
genetic and rare diseases and refers people
to reliable sources of information in English
and in Spanish.

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

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Genetic and Genomic Resources for
Patients and Health Professionals

– National Institutes of Health

• Genetics Home Reference: Your Guide to
Understanding Genetic Conditions
http://ghr.nlm.nih.gov/
• NIH Health Information http://health.nih.gov/
• Human Genome Project Information
http://www.ornl.gov/sci/techresources/Human_Gen
ome/home.shtml

Genetic and Genomic Education

Resources

• National Human Genome Research Institute,

Educational Resources
http://www.genome.gov/Education/
• Genetics Education Program for Nurses,
University of Cincinnati
http://www.cincinnatichildrens.org/ed/clinical/g
pnf/default.htm
• Genetics Education Center, University of
Kansas http://www.kumc.edu/gec/

44
 Genetic and Genomic Education
Resources

• National Human Genome Research Institute,

Educational Resources
http://www.genome.gov/Education/
• Genetics Education Program for Nurses,
University of Cincinnati
http://www.cincinnatichildrens.org/ed/clinical/g
pnf/default.htm
• Genetics Education Center, University of
Kansas http://www.kumc.edu/gec/

Genetic and Genomic Education

Resources

• National Human Genome Research Institute, Online

Genetics Education Resources
http://www.genome.gov/10000464

• Human Genome Project Education Resources

http://www.ornl.gov/sci/techresources/Human_Genom
e/education/education.shtml

• National Coalition for Health Professional Education

in Genetics (NCHPEG) http://www.nchpeg.org/

45
 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

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