Genomic Healthcare: A New Era in Healthcare for Pediatric Nurses

8/14/2019 Genomic Healthcare: A New Era in Healthcare for Pediatric Nurses

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Genomic Healthcare: A New Era inHealthcare 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 anddisease.

Describe three new genomic research efforts.

Discuss the nursing role in family historyassessment.

List two new ways that genetic testing is being

used in pediatric practice. Identify ethical issues of concern with regard togenomic healthcare.


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Yesterdays Genetics

Chromosomes units of heredity insidecells first discovered in the late 1800s.

Early 1900s inherited diseases firstlinked to chromosomes.

!950s 1980s genetic tests for geneticconditions affecting children such as cysticfibrosis, Down syndrome and Duchennemuscular dystrophy were developed.

Yesterdays Genetics

Genetic testing used to make or confirm adiagnosis, and to screen newborns forconditions such as PKU so earlyinterventions and treatments could beadministered.

Very few research laboratories capable of

conducting genetic testing, and fewcommercial genetic testing

laboratories.


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Todays Genetics and Genomics

NHGRI lead the Human Genome Projectfor the National Institutes of Health.

The full human genome sequence wascompleted in April 2003.

NHGRI now moves forward into thegenomic era with research aimed atimproving health and fighting disease.

Genetics and Genomics

Genetics the study of individual genes andtheir impact on relatively rare, single genedisorders.

Genomics the study of all genes in the humangenome together, including their interactions

with each other, the environment, and theinfluence of other psychosocial and culturalfactors.

http://www.genome.gov/17517037


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Personalized Medicine

Pre-genome era: healthcare providersused a one size fits all approach totreating individuals.

Post-genome era: increasingly healthcareproviders will be able to use genomicinformation to tailor treatments to theindividual, and personalize their care.

Genomic Healthcare: What itMeans for Pediatric Nurses

Increasing use of genetic and genomictechnologies to screen, diagnose and treatrare and common diseases.

Nurses must be knowledgeable andcompetent in providing in genetic andgenomic-based healthcare.


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Essential Nursing Competencies and

Curricula Guidelines for Genetics andGenomics

Established by Consensus Panel in 2005

Professional Responsibilities for all registerednurses:

Incorporate genetic and genomic technologies andinformation into registered nurse practice.

Demonstrate in practice the importance of tailoringgenetic and genomic information and services to

clients based on their culture, religion, knowledgelevel, literacy and preferred language.

Essential Nursing Competencies andCurricula Guidelines for Genetics and

Genomics

Advocate for the rights of all clients forautonomous, 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


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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 FirstStep DNA, or deoxyribonucleic acid, is the hereditary material in humans

and almost all other organisms.

Nearly every cell in a persons body has the same DNA. Most DNAis located in the cell nucleus.

The information in DNA is stored as a code made up of fourchemical bases.


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DNA - RNA - Protein

The journey from gene to protein is complex and tightly controlledwithin each cell. It consists of two major steps: transcription andtranslation.

Family History Assessment

Essential Nursing Competencies:

Demonstrates ability to elicit a minimum ofthree-generation family health historyinformation.

Constructs a pedigree from collected familyhistory information using standardized

symbols and terminology.


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U.S. Surgeon Generals Family HistoryInitiative

Tracing the illnesses suffered by yourparents, grandparents, and other bloodrelatives can help your doctor predict thedisorders to which you may be at risk andtake action to keep you and your familyhealthy.


To help focus attention on the importance offamily history, the U.S. Surgeon General incooperation with other agencies with the U.S.Department of Health and Human Services haslaunched a national public health campaign,called the U.S. Surgeon General's FamilyHistory Initiative, to encourage all American

families to learn more about their family healthhistory.


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HHS agencies involved in this projectinclude: National Human Genome Research Institute

(NHGRI) at the National Institutes of Health,

Centers for Disease Control and Prevention(CDC),

the Agency for Healthcare Research andQuality (AHRQ)

Health Resources and ServicesAdministration (HRSA).


Because family health history is such apowerful screening tool, the SurgeonGeneral has created a new computerizedtool to help make it fun and easy foranyone to create a sophisticated portrait oftheir family's health.

https://familyhistory.hhs.gov/


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Family History Collection: NursingRoles

Inform patients of the importance of familyhistory in health and disease.

Introduce families to the SurgeonGenerals Family History Tool

Assist with collection of family history fromfamilies

Construct 3-generation pedigree

Refer families at risk for further evaluationand 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 InheritancePedigree Illustrating X-Linked Recessive Inheritance Pattern


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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 amountof DNA.

Only egg cells contribute mitochondria to the developingembryo.

Only females can pass on mitochondrial conditions totheir children Mitochondrial disorders can appear inevery generation of a family and can affect both malesand 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 historyduring her sons annual pediatric visit. Her sisterrecently had a baby who was born with cysticfibrosis (CF). She has questions about how thishappened in her family and what it means forher and her husband when they have another

baby.

Case Example: Family HistoryAssessment Mr. and Mrs. N are planning to have children.

Mr. N tells you that he has a history ofNeurofibromatosis type 1, a conditioncharacterized by changes in skin coloring(pigmentation) and the growth of tumors alongnerves in the skin, brain, and other parts of thebody. He says he has a mild case, but his sisterand father have serious tumors. He asks whatare the chances of his children having NF?


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Emerging Genetic and Genomic

Research Essential Nursing Competency:

Incorporate genetic and genomictechnologies and information intoregistered nurse practice.

Human Genome Research

NHGRI funds Large-Scale Genome Sequencingcapacity at several centers located in the U.S.

The large-scale sequencing projects providecritical genomic information that can be ofsignificant value to the scientific community.

Sequencing centers are organized into a

research network, with oversight by NHGRI andScientific Advisors to the Program.


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Cancer Genome Atlas (TCGA)

TCGA is a comprehensive and coordinated effort toaccelerate understanding of the molecular basis ofcancer.

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 ResearchInstitute (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 preventcancer.

Office of Population Genomics

Established to facilitate the application ofgenomic knowledge to health.

Promotes multi-disciplinary research inepidemiology and genomics.

Applies genomic technologies to existingpopulation and clinical studies.

Develops new population resources forinvestigation of genetic and environmentalcontributions to complex diseases.


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Establishes research resources to identifygenes related to complex diseases andtheir environmental modifiers.

Examples research resources:

Standardized genetic, environmental andphenotypic data on meticulously

characterized and consented individuals.

Office of Population GenomicsResearch Program Priorities The Genetic Association Information Network

(GAIN) Supports a series of Genome-Wide Association

Studies (GWAS) designed to identify specific points ofDNA variation associated with the occurrence of aparticular common disease.

The Genes, Environment and Health Initiative(GEI) Supports research that will lead to understanding of

genetic contributions and gene-environmentinteractions in common disease.


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Research Program Priorities Policy for Sharing of Data Obtained in NIH

Supported or Conducted Genome-WideAssociation Studies (GWAS):

Developed following a public consultationprocess with interested stakeholders, theGWAS data-sharing policy will facilitate theresearch communitys access to genotype

datasets from GWAS in a broad array ofdisease areas.

Human Genome Clinical Research

Clinical researchers at NIH are now poisedto inaugurate a new era in medicine.

The new era of medicine

One where a more profound understanding ofthe biological basis of disease will pave theway for more effective and personalized ways

to diagnose, treat and prevent illness.


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Examples of disorders under study:

Attention Deficit Hyperactivity Disorder(ADHD)

Various disorders of the immune system

Holoprosencephaly a common brainmalformation

Alkaptonuria a devastating joint disease in

adults Neurofibromatosis


NHGRI Clinical Research and field workspans 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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NHGRI clinical researchers have played akey role in a number of important genediscoveries:

Identification of a gene that causes a kidneydisorder called Hartnup disease.

Identification of genes responsible forholoprosencephaly.

NHGRI Common Disease GeneResearch

Currently two important human researchstudies underway.

Both studies are investigating commondisease genes and their role in causingdiseases such as heart disease, diabetesand stroke.

Both involve communicating genetic andgenomic risk information.


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The ClinSeq Project

Studying large-scale medical sequencingin a clinical research setting.

Specific regions of a research participantsgenome will be sequenced, and relevantresults returned to that person.

Investigators will then look into the variousmedical, technical, genetic counseling

issues that accompany the implementationof this testing in the clinical setting.

ClinSeq Project Genome sequencing test may find changes in a

participants gene that cause or contribute todisease.

Participants may learn about changes in a geneor genes that has caused symptoms of adisease, or that they have variations that maycause them to develop a disease in the future.

Participants will be followed for a number ofyears by researchers to learn about howidentified genes affect their health anddevelopment of disease.


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Multiplex Initiative

A research project conducted by NHGRIand NCI.

Collaboration with the Group HealthCooperative in Seattle, and Henry FordHealth System in Detroit.

Investigating the interest level of healthy,young adults in receiving genetic testingfor 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 thetests interpret and use the results in making their ownhealth 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 insightsthat will be key to advancing the concept ofpersonalized medicine.

Genetic Testing

Nursing Competency: Demonstrates anunderstanding of the relationship of genetics tohealth, prevention, screening, diagnostics,prognostics, selection of treatment, andmonitoring of treatment effectiveness.


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Genetic Testing

Diagnostic genetic testing identifies a geneticcondition or disease that is making or in thefuture 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 bonegrowth

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 commondiseases such as diabetes, heart disease, and stroke


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Genetic Testing

Carrier testing tells people if they carry agenetic change that can cause a disease.

Carriers usually show no signs of the disease.

Carriers can pass on the genetic variation totheir children, who may develop the disorder orbecome carriers themselves.

Examples:

Cystic fibrosis Sickle cell anemia

Tay-Sachs disease

Genetic Testing

Prenatal testing offered during pregnancy tohelp identify fetuses that have certain diseasessuch as spina bifida.

Newborn screening used to test babies one ortwo days after birth to find out if they have

certain diseases known to cause problems withhealth and development such as PKU.


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Genetic Testing

Pre-implantation genetic testing is done inconjunction with in vitro fertilization to determineif embryos for implantation carry genes thatcould cause disease such as Tay-Sachsdisease.

Genetic Testing

Research genetic testing helps scientists learnmore about how genes contribute to health anddisease, as well as develop gene-basedtreatments.

Examples:

Genetic Analysis of Attention Deficit HyperactivityDisorder? NHGRI Research

Genetic Analysis of Neural Tube and Orofacial CleftDefects in the Irish Population



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Genetic Testing

Pharmacogenetic genetic testing

examines a person's genes to look at howdrugs would move through the body and bebroken down.

The goal of pharmacogenetic testing is tohave drug treatments that are specific to eachperson.

Genetic Testing

Pharmacogenomic genetic testing

examines the inherited variations in genesthat dictate drug response, and

explores the ways these variations can beused to predict whether a patient will have agood 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 pharmacogenomicsand pharmacogenetics?

Pharmacogenomics refers to the general study of all ofthe many different genes that determine drug behavior.

Pharmacogenetics refers to the study of inheriteddifferences (variation) in drug metabolism and response.

The distinction between the two terms is considered

arbitrary, however, and now the two terms are usedinterchangeably.

Personalized Medicine

Personalized medicine has the potential totransform healthcare through:

earlier diagnoses,

more effective prevention and treatment ofdisease,

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 weanedfrom corticosteroid immunosuppressive therapy.

Use of genetic testing to help predict which pediatric patientsmay be weaned sooner from immunosuppressive steroid therapyand which patients require more aggressive immunosuppressivetherapy when being weaned from steroids.

Clinical Pharmacogenetics inPediatric Patients Childhood Leukemia Drug Response and Toxicity

Acute Lymphoblastic Leukemia (ALL)

Treatment with 6-mercaptopurine (6MP) is a key medication fortreatment of ALL.

Thiopurine methyltransferase (TMPT) helps to metabolize 6MP

Studies have shown that TMPT genotype or phenotype identifiespatients who are at risk for hemopoietic toxicity after thiopurinetherapy.

For example, patients who have TMPT deficiency are at very high

risk of sever hematopoetic toxicity if treated with the conventionaldoses of thiopurines

Therefore there is great clinical benefit in determining an ALLpatients TMPT genotype before administering the treatment in allchildren more effective drug therapy and less potential toxicity forpatients


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Pediatric Patients Asthma most common chronic disorder in childrenand adolescents, and leading cause ofhospitalizations in children.

Albuterol (an inhaled B2 agonist) commonly usedtreatment.

Studies are now underway looking at how an asthmapatients genotype affects response to Albuterol, andhow doses can be modified based on genotype.

Clinical Pharmacogenetics inPediatric Patients Attention-deficit hyperactivity disorder (ADHD) a

common childhood disruptive disorder, characterizedby age inappropriate levels of inattention,hyperactivity and impulsivity.

Studies are underway that look at childrensgenotypes to be able to predict medication tolerabilityand side effects.

Awareness of increased risk for particular side effectsmay lead clinicians to choose medications that aremore likely to be tolerated long term, and avoidexposing patients to drugs with high chance of pooroutcomes.


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Pediatric Patients Francis Collins Research in Progeria, a rapid agingdisease in children that results in eventual deatharound 12 or 13.

The disease results in a toxic protein that causes aheart attack.

Discovered a drug that may be beneficial. In studiesof mice, the drug completely cured the affected mice.

Current clinical trials underway with 28 children.

Genetic Testing

Direct-to-consumer genetic testing a newapproach that allows people to order certaingenetic tests by sending in a sample of theirsaliva or tissue to a laboratory.

The laboratory returns results only to theindividual who sent in the sample.

Often no healthcare provider is involved in theprocess.


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Genetic Testing

Direct-to-consumer genetic testing shouldchildren have their genomes scanned?

Proactive family project earlier opportunities forintervention and prevention?

Informed consent?

The DNA Innate Talent Test testing children toidentify genetic traits for intelligence, emotionalquotient (EQ), athletic ability?

Genetics and Genomics Tomorrow

In the future:

Genetic testing will be used to scan all of a personsgenetic material, so that disease risk variants can beidentified and early intervention and treatment can beplanned.

The cost of testing an individuals entire genome willbe less than $1,000.

We will live in a time of personalized medicine,when many treatments for medical conditions will bechosen based upon what genetic testing indicatesabout a persons specific genetic makeup.


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Teaching Patients and Families AboutGenetic 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 facilitatedecision-making.

Uses genetic- and genomic-based interventions andinformation to improve clients outcomes.

Essential Nursing Competencies and

Curricula Guidelines for Genetics and Genomics, 2006


Explain:

what genetic testing is genetic testing useslaboratory methods to look at your genes.

What the specific genetic test is that is beingrecommended/offered.

What will be learned about the clients health from thegenetic testing (e.g. diagnosis, to guide treatment).

How the genetic testing will be done. Describe safeguards that will protect the privacy of

the clients test results.


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Refer client for genetic counseling to get moreinformation about the genetic test.

Provide resources to the client about where theycan 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 SocialIssues in Genetics and

Genomics


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Health Issues in Genetics and

Genomics Genomic research designed to advanceunderstanding of the human genome and therole of individual genes or groups of genes inhuman health to improve the medicalcommunitys ability to treat and cure diseases.

Genomic research also raises questions abouthow the information and technologies it yieldswill affect standards of patient care.

Health Issues in Genetics andGenomics

Genetic testing and counseling, and genetherapy raise difficult questions: Should health care providers tell patients that

they might be at high risk for developing anillness because of their genetic makeup whenthere is no effective treatment and cure?

Does the nature of genetic information create

a need to revisit issues of informed consentand other ethical questions in the use ofhuman subjects in genomic research?


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Ethical Issues in Genetics and

Genomics NHGRI supports highly technical genomicresearch that is rapidly advancing ourunderstanding of the human genome.

New information is potentially beneficial to thehealth of Americans, BUT it can also bemisused.

Ethical, Legal and Social Issues (ELSI) Branchof NHGRI informs the development of federalguidelines, regulation and legislation to guardagainst 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 theexpanding knowledge of human genomics andtranslation of this information to improved healthcare.

Personalized Medicine: How the HumanGenome Era Will Usher in a Health CareRevolution.


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ELSI Health Issue Areas

Direct-to-Consumer Marketing of GeneticTests may increase public awarenessbut there may also be some risks inadopting this strategy.

A Government Accountability Study (GAO)concluded that direct-to-consumer genetictests pass on misleading information.

ELSI Health Issues

Informed Consent examines whethernew requirements for informed consentare needed to protect subjects in researchstudies on the human genome.

Issues surrounding the use of genomicinformation and technologies in non-healthcare settings such as insurance,employment, education, adoption.


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ELSI ISSUES

Privacy and Confidentiality of Genetic andGenomic Information

Many people are concerned about privacy andconfidentiality of genetic test results, especially frominsurers or employers.

Genetic InformationNondiscrimination Act (GINA) Genetic Information Nondiscrimination Act (GINA)

May 21,2008 The President signed into GINA intolaw.

GINA protects Americans against discrimination basedon their genetic information when it comes to healthinsurance and employment.

The long-awaited measure, which has been debated in

Congress for 13 years, will pave the way for people totake 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 protectspeople from discrimination by healthinsurers and employers on the basis ofDNA information.

What GINA does not do - The law doesnot cover members of the military. Inaddition, 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 groupidentity.

Implications for both individuals and society ofuncovering genomic contributions to humantraits and behaviors (e.g. cognition, mentalillness, aging).

How different individuals, cultures and religioustraditions view the ethical boundaries for uses ofgenomics.


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Genetic and Genomic Resources forPatients and Health Professionals

Genetics and Rare Diseases InformationCenter (GARD)www.genome.gov/Health/GARD

E-mail: [email protected]

Toll-free phone: 1-888-205-2311

TTY: 1-888-205-3223

This free service provides information aboutgenetic and rare diseases and refers peopleto reliable sources of information in Englishand in Spanish.


National Human Genome ResearchInstitute

Genetics and Genomics for Patients and thePublic http://www.genome.gov/19016903

Genetics and Genomics for HealthProfessionals



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National Institutes of Health

Genetics Home Reference: Your Guide toUnderstanding Genetic Conditionshttp://ghr.nlm.nih.gov/

NIH Health Information http://health.nih.gov/

Human Genome Project Informationhttp://www.ornl.gov/sci/techresources/Human_Genome/home.shtml

Genetic and Genomic EducationResources

National Human Genome Research Institute,

Educational Resourceshttp://www.genome.gov/Education/

Genetics Education Program for Nurses,University of Cincinnatihttp://www.cincinnatichildrens.org/ed/clinical/gpnf/default.htm

Genetics Education Center, University ofKansas http://www.kumc.edu/gec/


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National Human Genome Research Institute,

Educational Resourceshttp://www.genome.gov/Education/

Genetics Education Program for Nurses,University of Cincinnatihttp://www.cincinnatichildrens.org/ed/clinical/gpnf/default.htm

Genetics Education Center, University ofKansas http://www.kumc.edu/gec/


National Human Genome Research Institute, OnlineGenetics Education Resourceshttp://www.genome.gov/10000464

Human Genome Project Education Resourceshttp://www.ornl.gov/sci/techresources/Human_Genome/education/education.shtml

National Coalition for Health Professional Educationin Genetics (NCHPEG) http://www.nchpeg.org/


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Summary

The pace of genomic research is transformingour understanding of the role of genetics andgenomics in health and disease.

It is now known that genomics plays a role in 9out the 10 leading causes of death.

All human beings are 99.9 percent identical intheir genetic makeup.

Differences in the remaining 0.1% hold

important clues about the causes of both healthand disease.

Implications for Nurses

Nurses will be on the frontline in communicatinggenetic and genomic information to patients,families and communities.

All nurses need to be fluent in the language ofgenetics and genomics so they can provideeffective nursing care.

The Essential Nursing Competencies inGenetics and Genomics provide a framework fornurses to practice genomic health care.


Genomic Healthcare: A New Era in Healthcare for Pediatric Nurses

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