Transcript Genetics - Duke University

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To receive Nursing Contact Hours,
you must complete the Genetics &
Genomics evaluation.
The evaluation is a separate
offering that you will launch from
the Learning Management
System.
Genetics & Genomics
Kristi Wiggins
MSN, RN,ANP-BC, AOCNP, CCRC
Oncology Adult Nurse Practitioner
Duke University Adult Stem Cell Transplant
This slide presentation is brought to you as part of the G2@Duke
Project, part of the WVU MINC Project
Expanding RN Scope of Practice: A Method for
Introducing a New Competency (MINC) into Nursing
Practice
The primary aim of this research project is to establish and assess
the outcomes of a Magnet Hospital Champion year-long
intervention to improve the capacity of the institution to integrate
genomic information into nursing healthcare delivery.
Objectives
 Discuss basic concepts of genetics/genomics and how
knowledge of these concepts impact personalized
healthcare.
 Name at least one advantage and one disadvantage to
applying genetics to nursing practice.
 Name at least 2 competencies for healthcare providers in
genetics.
 Obtain a family history to construct a 3-generation
pedigree.
 Define pharmacogenomics.
Genetics:
Genetics is the study of genes & heredity
- what is inherited from one’s predecessors
• Genetics focuses primarily on the
likelihood of developing disease
• Genetic tests find mutations, not
disease
Genomics:
Genomics is the study of how genes
interact and are expressed as a whole
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Intricate look at a patient’s individual disease biology
Genomics & gene profiling focus on disease and can be used
to determine:
 Aggressiveness of the disease (prognosis)
 Possible benefit from treatment (prediction)
Top 10 leading causes of mortality have a
genetic/genomic component…
• Heart disease, cancer, cerebrovascular
disease, & diabetes represent the vast
majority of mortalities in the US.
• …nurses are intimately involved in the
ongoing treatment and management of
these conditions.
Where Do We Start?
• “Our family’s past health history is key to our
future wellbeing”
~ Geoffrey S. Ginsburg, MD, PhD
Director, Center for Genomic Medicine
Institute for Genome Sciences & Policy at Duke University
Similarities & Differences in
Our Genes
 We have 99.9% DNA in
common with each other
 We have 99% DNA on
common with mice
 90% of genes associated
with disease are identical in
humans and mice.
 Families share environment,
diet, & habits that affect our
genes
• BUT…It’s the 0.1% that
makes all the difference!
(genetics)
• Every person’s
environmental exposures
and genetic reactions are
unique to the individual
(genomics)
Basic Genetics:
– Cells - Nuclear material
• Chromosomes
–DNA
» DNA is the genetic material in a cell that
contains genes. When DNA represents
all of the genes for the species, it is
referred to as the “genome.”
»Genes
»SNPs
Tightly
supercoiled DNA
condensed and
packed
into a
chromosome
structure.
Figure from the National Human Genome Research Institute (NIH)
Loosely coiled DNA
Chromosome:
DNA that is tightly condensed & coiled into
dense bodies that take up stain and are
visible microscopy during metaphase.
• Humans have 46 chromosomes (23 pairs). This
number is known as the "diploid" number of
chromosomes for humans.
• These 46 chromosomes contain all the nuclear
DNA of a human cell.
Karyotype:
An organized arrangement of all of the
metaphase chromosomes within one cell.
• Chromosomes are collected into pairs (one from
mom, one from dad), lined up according to size
and centromere position. This is used to
determine missing or extra Chromosomes, and
some large structural rearrangements.
• Euploid
• Aneuploid
Allele:
One of possible alternate forms of a gene
for any trait or protein controlled by a
single gene.
• For blood type, there are 3 possible gene alleles:
– A, B, and O.
• However, each person only has two of these alleles
that determine blood type (one copy from mom,
the other from dad).
• Some traits have even more than 3 possible gene
alleles types, but each person only has 2.
Central Dogma of Molecular Genetics
transcription
DNA
replication
RNA
translation
Protein
The multi-step Process of Protein Synthesis
Figure from the National Human Genome Research Institute (NIH)
SNP – Single Nucleotide
Polymorphism(s):
A single nucleotide change within a gene,
sometimes referred to as a “benign mutation”
or a “normal variant.”
(Such as the cytochrome p450 system alterations &
“asparagus pee”)
What is Pharmacogenomics?
• Study of how an individual's genetic make-up
affects the body's response to drugs
• Goal: tailor-made drugs, adapted to each
person’s genetic makeup.
– In addition to genetics, environment, diet,
age, lifestyle, and state of health all can
influence a person's response to treatments.
• Combines traditional pharmaceutical sciences
such as biochemistry with knowledge of genes,
proteins, and SNPs.
http://www.ornl.gov/sci/techresources/Human_Genome/medicine/pharma.shtml
Why Use Genetic Information in
Nursing?
• To be prepared for the incredible changes already occurring in
health care related to genetics; closing the gap between
research discoveries and healthcare to optimize health
• To provide patients with genetic education and foster greater
access for patients to receive genetic services
• Identify patients at risk for genetic disorders, then …
• Implement plans for prospective testing, screening, and/or
treatment for those with a known or suspected genetic disorder,
benefiting the future health of both the patient and their
families
• To educate patients on the rationale for targeted therapies
• Be aware of genomic drug information to promote patient
safety
Barriers to Using Genetic Information
in Nursing
• A large gap still exists between genetic knowledge and knowing
how to apply this information in the clinical setting
• Insufficient knowledge base to provide genetic-focused care in
our current nursing care
• Lack of systemic method for obtaining family history and
screening for possible genetic abnormalities
• Mutlifactorial emotional & ethical barriers to genetic testing
• Fear of discrimination associated with genetic testing
• Political and financial roadblocks to providing state-of-the-art
genetic testing and treatment for patients regardless of
demographics
Epigenetic Targets &
Treatments
Epigenetics:
Study of heritable changes in gene expression
that occur independent of changes in the primary
DNA sequences.
• Examples: Twins & animal behavior modification
Known Genetic Disorders
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Down Syndrome
Cystic Fibrosis
Muscular Distrophy
Hemophilia
Sickle Cell disease
Turner Syndrome
Color Blindness
Polycystic Kidney disease
Hemochromatosis
Severe Combine Immune Deficiency
(SCID)
• Klinefelter Syndrome
• Li-Fraumeni Syndrome
More Genetic Disorders
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Nonpolyposis Colorectal Cancer
Cardiomyopathy (Noonan syndrome)
Celiac disease
Charcot-Marie-Tooth syndrome
Cowden Syndrome
Dwarfism
Di George’s Syndrome
Fragile X Syndrome
Huntington’s disease
Marfan Syndrome
Lynch Syndrome
Neurofibromatosis
Family History 101
• Collect information for at least three
generations:
– 1st
– 2nd
– 3rd
– 4th
patient & patient’s siblings
parents
grandparents
children
• (4th generation moving forward, important for health
screening for future health concerns), and/or add great
grandparents if information available
Family History - Continued
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Name and Relationship to the patient
Date of Birth and/or Age
Gender
Family origin, heritage, race, or ethnicity
Any Diagnoses & Age Diagnosed
If Deceased, Cause of death & Age at death
DUKE HUMAN
RESOURCES
”Health Assessment”
http://www.hr.duke.edu/bene
fits/wellness/assessment/ind
ex.php
DUKE HUMAN
RESOURCES
”Health Assessment”
http://www.hr.duke.edu/bene
fits/wellness/assessment/ind
ex.php
Core Genetics Competencies
Minimum Requirements of Healthcare
Providers:
 Identifying areas of strength and areas where professional development
related to genetics and genomics would be beneficial.
 Understand that health-related genetic information can have important
social and psychological implications for individuals and families.
 List essential family history elements and discuss their significance in
clinical practice.
 Identify ethical, cultural, legal, fiscal, ethnic, religious, and societal issues
related to genetics/genomics information
 Know how and when to make a referral to a
genetics professional.
www.nchpeg.org
The Future…
• Understand the genetic basis for molecular pathways in our
biology, allowing for knowledgeable patient & nursing
education.
• Recognize molecular targets for therapies used in novel
treatments and diagnostic assays that we will administer and
manage with our patients.
• Enhance the management of our patient’s care with
increased knowledge of genetic information and biomarkers
to decrease toxicities, increase treatment accuracy, and
improve disease outcomes.
Resources
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Bennett, R.L., French, K.S., Resta, R.G., & Doyle, D.L. (2008). Standardized human pedigree nomenclature
update and assessment of the recommendations of the National Society of Genetic Counselors. Journal of Geneitc
Counseling [Springer]. 17doi:10.1007/s10897-008-9169-9.
http://www.ornl.gov/sci/techresources/Human_Genome/medicine/pharma.shtml
http://www.nature.com/bjc/journal/v100/n1/fig_tab/6604781f1.html#figure-title
Lee, H., et al., (2011). Lab Med Online. 2011 Jul;1(3):163-167. Published online 2011 July
05. http://dx.doi.org/10.3343/lmo.2011.1.3.7, Laboratory Medicine Online
Nature Reviews Drug Discovery 3, 739-748 (September 2004)
National Human Genetics Research Institute
– www.nhgri.gov
N Engl J Med 2009;360:753-764.
Oncology Nursing Society
– www.ons.org
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Paik et al. N Engl J Med. 2004;351: 2817-2826
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www.cancer.gov
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http://www.cdc.gov/nchs/fastats/deaths.htm
www.cellulargenetix.com/pharmacogenomics.asp
www.genomics.gov
www.merriam-webster.com/
www.nature.com/cancer/index.html
www.nci.gov
www.nchpeg.org
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must complete the Genetics &
Genomics evaluation.
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