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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

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 DNAcondensed and packedinto a chromosomestructure.

Loosely coiled DNAFigure from the National Human Genome Research Institute (NIH)

Chromosome: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: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: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 GeneticsCentral Dogma of Molecular Genetics

DNADNA RNARNA ProteinProteintranscriptiontranscription translationtranslation

replication

Figure from the National Human Genome Research Institute (NIH)

The multi-step Process of Protein Synthesis

SNP – Single NucleotidePolymorphism(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• 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• 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 patient & patient’s siblings

– 2nd parents

– 3rd grandparents

– 4th children • (4th generation moving forward, important for health

screening for future health concerns), and/or add great grandparents if information available

Family History - Continued

• 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/benefits/wellness/assessment/index.php

DUKE HUMAN RESOURCES

”Health Assessment”

http://www.hr.duke.edu/benefits/wellness/assessment/index.php

Core Genetics Competencies

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

Minimum Requirements of Healthcare Providers:

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• 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 Paik et al. N Engl J Med. 2004;351: 2817-2826 www.cancer.gov 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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