genetics in the clinical setting · genetics into their clinical practice. the planners and all...

10 American Nurse Today Volume 12, Number 10 AmericanNurseToday.com

THE CENTRAL DOGMA of biology(deoxyribonucleic acid [DNA] to ri-bonucleic acid [RNA] to protein)was first described in 1957, beforethe current average-aged 50-year-old nurse was born. And it wasn’tuntil 2008 that genetics was consid-ered essential to nursing educa-tion, when most experienced nurs-es were already at least 45. In otherwords, many nurses have minimalgenetics education and may notfeel comfortable incorporating ge-netics assessment and implicationsinto a patient care plan.

Since 2003, when human genomesequencing was completed, muchgenetic information and technologyhas been introduced into healthcare,requiring nurses to understand andtranslate these concepts to patients.However, without a strong founda-tion in genetic facts, how do nursesknow what’s important? How do weidentify the red flags of inheriteddiseases, use a family assessment torecognize risk factors, develop aplan of care to educate patients, andensure proper diagnosis?

This article explains basic genet-ic terminology and processes and

describes assessment steps to helpclinical nurses care for and managepatients at risk for inherited adult-onset diseases.

Genetics, genomics, andepigeneticsGenes are composed of DNA se-quences located in segments alongan individual’s chromosomes. Aperson’s genes are passed from onegeneration to the next, making ge-

netics the study of heredity. Thecomplete length of a person’s DNAwithin a cell is called the genome,making genomics the study of thestructure of the genome throughmapping and sequencing of DNA.Epigenetics studies the environ-ment’s role in activating and deacti-vating genes. (See Genetics primer.)

PharmacogenomicsPharmacogenomics, the study ofhow a person metabolizes medica-tions based on his or her personalgenetic makeup, is one of the earli-est applications of genetic and ge-nomic research into clinical inter-vention. (See Genetic markers fordrug response and function.) Phar-macogenomics has been most com-monly used in psychiatry to deter-mine drug choice and response,and in pain management to assessaddiction potential. In addition, ge-netic testing can be used to tailormedication management to reduceand minimize side effects and pro-mote treatment plan adherence.

While not routinely used in gen-eral practice, this type of personal-ized medicine may become more

Genetics in the clinical setting What nurses need to know to provide the best patient care.

LEARNING OBJECTIVES1. Recall key genetic processes.2. Describe the essentials of a genet-ic assessment.

3. Discuss how nurses can integrategenetics into their clinical practice.

The planners and all authors of this CNE activity ex-cept Everett have disclosed no relevant financial re-lationships with any commercial companies per-taining to this activity. Everett is a speaker forMyriad Genetics and a sales representative for Im-perium Health Resources. Peer review found no ev-idence of bias. See the last page of the article tolearn how to earn CNE credit.

Expiration: 10/1/20

CNE1.49 contact

hours

By Susan Montgomery, BSN, OCN, GCN; Wendy A. Brouwer, MSN, RN-C, WHNP, AGN-BC; Phyllis C. Everett, MSN, RN, AOCN, APNG, NP-C; Elizabeth Hassen, PhD(c), RN, OCN; Tracy Lowe, PhD(c), MS, RN;

Sheila B. McGreal, MSN-CV, RN-BC, ACNS-BC, ANP-BC; and Julie Eggert, PhD, RN, FAAN

AmericanNurseToday.com October 2017 American Nurse Today 11

commonplace as we begin to tiepatient outcomes to reimbursement.Adverse drug reactions are thefourth leading cause of death andare responsible for over 1 millionemergency department visits eachyear, with 25%r of these patients re-quiring hospitalization for furthertreatment. Issues related to drugmetabolism cost $3.5 billion per

year in supplementary healthcareexpenditures.

Nursing care and geneticsThe initial Scope and Standards forClinical Genetics Nursing Practicewas first published in 1998 after theAmerican Nurses Association (ANA)recognized genetics as a nursingspecialty. Then, shortly after comple-

tion of human genome sequencing,ANA published the Essentials of Ge-netic and Genomic Nursing: Compe-tencies, Curricular Guidelines, andOutcome Indicators, which was en-dorsed by 47 nursing organizations.These guidelines challenge nurses to:• recognize how their personal at-

titudes about genetics might im-pact their practice

Genetics primerUnderstanding genetics requires a grasp of terminology andprocesses.

TranscriptionThrough the process of transcription, DNA inside the nucleus istranscribed into messenger RNA (mRNA). The mRNA thenmoves into the cytoplasm to the site of the ribosome, where it’stranslated into amino acids, which are the building blocks ofproteins. Proteins maintain homeostasis in the body, andthey’re used as enzymes, which trigger cellular activity, and areresponsible for cellular growth and repair. In other words, an in-dividual’s DNA sequence is responsible for gene regulation andall cellular activities.

During periods of rest from transcription, DNA rolls tightlyaround histones (proteins that bind to the DNA to condense itin the cell nucleus) and then loosens to enable transcription.

Epigenetic changesEpigenetic changes tag the DNA, interfering with transcriptionand causing normal and natural alterations influenced by theenvironment, disease, and lifestyles. Epigenetic changes affecthow cells read and interpret genes, resulting in visible charac-teristics (phenotypes). A collection of chemical tags, like methy-lation, can interfere with transcription to turn genes on or offand help fine-tune gene expression (protein production) in re-sponse to what’s happening in the environment.In some situations, epigenetic alterations can result in cell dif-

ferentiation that leads to cancer or other disorders.

Chromosomes, diploid cells, and allelesChromosomes are the structures within a nucleus that carry ge-netic information and exist in pairs. The 46 chromosomes in-clude 22 pairs of autosomes and one pair of sex chromosomes.Diploid cells are formed when one chromosome copy is inher-

ited from both the father and the mother, carrying thousands ofchromosomes that contain genetic traits.Alleles are a different version of the same gene and are distin-

guishable by phenotype or observable expression. Because ofthe vast amount of chromosome exchange during cell division,

genetically identical individuals are virtually impossible unless,of course, they’re identical twins.

Incorrect translation, germline mutations, and somatic mutationsDisease results when a change in gene DNA nucleotides (basepairs) is caused by incorrect translation in the mRNA. This cre-ates a modification in the amino acid, which leads to insuffi-cient or dysfunctional protein production. Environmental chem-icals, drugs, diet, stress, trauma, and even aging also can causemutations in any cell after conception.Hereditary germline mutations arise from inherited DNA in

the gametes or sex chromosomes and are duplicated in everycell. Conversely, somatic mutations are acquired genetic alter-ations within cells that can be passed to future progenies of acell, but not sperm or eggs.

DNA RNAAmino acid

chain

Protein

foldingtranslationtranscription

Copyright 2017. Used with permission.


• advocate for clients for geneticservices and autonomous geneticdecision-making

• incorporate genetic and genomicinformation into their practicesand regularly evaluate their com-petency

• tailor genetic and genomic infor-mation to patients based on theirculture, literacy, religion, andpreferred language.To incorporate these competen-

cies into practice, nurses need basicgenetic and genomic knowledge.ANA provides a list of current ge-netics publications and resourcesthat are earmarked for nurses (nurs-ingworld.org/genetics). The compe-tencies divide the professional prac-tice guidelines into four categories—nursing assessment; identification ofhereditary risk; referrals; and educa-tion, care, and support.

Nursing assessmentTo assess a patient’s genetic risk,you must understand the relation-ship of genetics and genomics tohealth, prevention, screening, treat-ment, and monitoring. Essentialnursing competencies include basicknowledge of genetic and genomicprinciples, genetic resources, currentresearch, and professional guide-lines and recommendations. Consid-er genetic, environmental, and ge-

nomic influences and risks duringphysical assessments, when collect-ing personal and family health histo-ries, and when analyzing this infor-mation. In addition, assess thepatient’s knowledge and perceptionsof genetic and genomic information,as well as his or her responses, andaddress any issues or concerns. Indeveloping the care plan in con-junction with the patient, integrateclinical judgment, patient prefer-ences, evidence-based research, andfamily implications to plan genetic-and genomic-focused care.

Identification of hereditary riskIn the clinical setting, identification

An individual’s genetic makeup plays a role in how his or her body metabolizesmedication. The Food and Drug Administration includes biomarker information inits labeling, which nurses can use as a source for medication and metabolismpathways. Up to 80% of the most commonly ordered medications include phar-macogenomic information. The following list of genetic markers indicates thedrug response and function of each.

OPRM1—opioid analgesic effectiveness

SLC6A4—antidepressant response

SLCO1B1—statin safety and efficacy

VKORC1—warfarin sensitivity

MTHFR—dietary folate conversion to its active form

BDNF and DRD2—dopamine release enhancement

Hepatic isoenzymes (cytochrome P450, including CYP2D6, CYP2C9, CYP2C19,CYP3A4, CYP3A5, CYP2B6, and CYP1A2)—drug metabolism interference

Genetic markers for drug responseand function

Access these online resources to learn more about genetics, genomics, and familyhistories.

American Academy of Family Physicians Genomics CMEaafp.org/afp/topicModules/viewTopicModule.htm?topicModuleId=56#0Collection of the best content from the American Family Physician journal on ge-netics, family history, and individual syndromes.

Centers for Disease Control and Preventioncdc.gov/genomics/famhistory/famhist_professionals.htmThis site provides links to genetic, genomic, and family health history resources,including case studies, for health professionals.

Genetic Alliancegeneticalliance.org/familyhealthhistoryThe Genetic Alliance promotes patient awareness of family health history withlinks to downloadable booklets in English and Spanish to help patients sharetheir histories with clinicians.

U.S. Surgeon Generalhhs.gov/familyhistory/This patient-friendly website reviews the importance of family history and in-cludes a web-based tool to organize and print family history information.

Family history resources


of hereditary risk begins with theprimary care nurse. Obtain a three-generation family history to identifyindividual and family genetic riskfactors. Start with the patient’s histo-ry, then gather information on first-(children, siblings, and parents), sec-ond- (maternal and paternal grand-parents, aunts, uncles, nieces, andnephews), and third-degree (firstcousins) relatives. Note any missinginformation or unknown family his-tory. (See Family history resources.)

For each family member, collectthe following information:• Name, date of birth• Health status, including medical

conditions and age at diagnosis• If deceased, age and cause of

death• Racial and ethnic ancestry of ma-

ternal and paternal grandparents.After all data are gathered, ana-

lyze the information to determinepatterns of both monogenic andmultifactorial disease risks. (SeeUnderstanding monogenic andmultifactorial disorders.) A drawnpedigree is a succinct way to visu-alize this information.

Electronic health records (EHRs)typically include a family historysection for documenting health in-formation over three generations.Ideally, an alert would prompt youto clarify information related to ge-netic risk factors. The best EHRwould generate a pedigree basedon the family history entered. Cur-rent EHRs aren’t able to producepedigrees or prompt practitioners topotential genetic risks, but the needfor this software development is rec-ognized.

Several red flags in a patient’spersonal and family history may in-dicate a potential for inherited sus-ceptibility to a disease or geneticcondition. Both the Genetic Al-liance and the National Coalitionfor Health Professional Education inGenetics are reliable resources tolearn about red flags. Primary care,cardiology, oncology, and otherspecialties have published data that

specify red flags in their specialty.(See Genetic red flags.)

According to the Genetics in Pri-mary Care Institute, red flags varybased on the assessment. For ex-ample, red flags for hereditary can-cer will be different from those fora preconception evaluation. Also,an individual’s ethnicity and racehave a significant influence on thedistribution, incidence, and preva-lence of many genetic diseases.

Referral When red flags are identified dur-ing the family history, you or theprovider should make a referral toa genetic specialist. To help pa-tients and families make informeddecisions and to decrease their anx-iety, provide information about thereasons for testing, types of tests,and benefits and risks.

Benefits of genetic testing in-clude providing a definitive diagno-sis, offering information related to

familial risk, and identifying preven-tion, management, and treatmentoptions. Risks include the potentialfor discrimination based on geneticresults, anxiety over the uncertaintyof incidental findings of unknownsignificance, and the psychologicalimpact of what the findings mean.(See Uses of genetic testing.)

Be aware of barriers to genetictechnology and services, includingculture, language, family values, tra-ditions, religion, and health beliefs.In addition, stay up-to-date on cur-rent health policy regarding reim-bursement for genetic and genomichealth services as well as geneticdiscrimination related to insuranceand employment.

Local and national resources canhelp facilitate referrals. The Interna-tional Society of Nurses in Geneticsand the National Society of GeneticCounselors can help locate geneticprofessionals. Genetic services arefrequently offered by specialty (for

Adult-onset monogenic disorders are single-gene disorders with disease signsand symptoms (phenotypes) that can begin during childhood. These rare herita-ble conditions may be seen in multiple generations of a family and include: • hereditary hemochromatosis• alpha-1 antitrypsin deficiency resulting in obstructive pulmonary disease• Huntington’s disease• autosomal dominant polycystic kidney disease• Gaucher disease• Fanconi syndrome II• inherited cancer syndromes, such as hereditary breast/ovarian cancer and

Lynch syndrome.

More common are multifactorial disorders that result from a combination of ge-netic and environmental factors. They occur any time during the lifespan, buttend to be more common in adulthood. Like monogenic disorders, many multi-factorial disorders can be identified in multiple family generations. They include: • hypertension• hypercholesterolemia• coronary artery disease• stroke• autoimmune disorders (for example, rheumatoid arthritis, systemic lupus ery-

thematous, psoriasis, Graves’ disease, multiple sclerosis, scleroderma)• Alzheimer’s disease• Parkinson’s disease• schizophrenia• alcoholism• cancer• bipolar affective disorder.

Understanding monogenic and multifactorial disorders


example, cardiology or oncology),so keep a list of local resources.Genetests.org is another useful clin-ical tool to assist in identifyingavailable genetic testing in clinicaland research labs.

In addition to genetic and ge-nomic referrals, the personal orfamily history may require risk-management referrals to appropri-ate specialists. You can be instru-mental in initiating these referralsand providing follow-up.

Education, care, and supportThe genetic testing process, frominitial counseling through disclosureof test results, can take 4 weeks ormore. During this time, you can of-fer emotional support and discusspotential strategies for action afterthe results are received. (See Inter-preting genetic test results.)

After learning the test results,help clarify information provided bygenetic professionals, explore impli-cations for the patient and family,recommend health promotion andprevention practices based on ge-netic risk factors, and collaboratewith healthcare providers for opti-mal care delivery. Individuals identi-fied as high risk for genetic diseasesshould be referred for early detec-tion and screenings based on rec-ommended national guidelines. En-courage patients to discuss riskswith family members so each personcan make individual decisions forreferral, intervention, and testing.

Offer support as patients navigatea new diagnosis associated with agenetic mutation. This can includeexploring the effect of genetic infor-mation on extended family mem-bers, supporting lifestyle changesbased on genetic predisposition, explaining pharmacogenomic thera-pies, and identifying strategies forreimbursement of genetic services.

Nursing and precision medicinePrecision medicine (tailoring med-ical treatment to each patient’s indi-vidual characteristics) has become

Genetic red flags identified during a family history may indicate high risk for aninherited disorder. The following examples of red flags should prompt referral to agenetic specialist.

Known genetic disorder in familyFamily history of diseaseMultiple generations of affected maternal or paternal relatives • Two affected first-degree relatives • Three or more affected maternal or paternal relatives • Moderate risk on both sides of the pedigree (for example, two maternal relatives with cancer and two paternal relatives with heart disease)

Early onset of disease in first- or second-degree relative, including: • Breast, ovarian, endometrial cancers (< 50 years old) • Colon cancer (< 50 years old) • Prostate cancer (< 50 years old) • Stroke (< 50 years old) • Coronary artery disease (males < 55 years old, females < 65 years old) • Type 2 diabetes (< 50 years old) • Dementia (< 60 years old)

Sudden cardiac death of an individual considered healthy

Ethnic predisposition to certain genetic disorders including: • Sickle cell disease in individuals of African American heritage • Tay-Sachs disease in Ashkenazi Jewish families • Alpha thalassemia in individuals from Southeast Asia

Adapted from Schaa K. Red flags suggestive of a genetic component. In: Kasper CE, Schneidereith TA, Lash-ley FR, eds. Lashley’s Essentials of Clinical Genetics in Nursing Practice. 2nd ed. New York, NY: Springer Publish-ing Company; 2016.

Genetic red flags

You can help patients and families understand the purpose behind genetic test-ing options.

Diagnostic testing confirms or rules out a diagnosis. This testing is indicatedwhen symptoms already exist.

Carrier testing determines whether an individual is a carrier of a recessive or X-linked Mendelian disorder.

Predictive or presymptomatic testing indicates whether a person is very likelyto develop a condition such as Huntington’s disease.

Prenatal or antenatal testing looks for genetic and chromosomal disorders suchas Down syndrome.

Susceptibility testing determines an individual’s genetic risk for an etiologicallycomplex disorder that involves multiple risk factors, such as diabetes or heartdisease.

Pharmacogenetic testing analyzes genetic variants to predict an individual’s re-sponse to a specific medication or class of medications.

Uses of genetic testing


an important component of nursingpractice. Research supports preci-sion medicine as an evolving strate-gy for disease treatment and pre-vention that includes attention toan individual’s variability in genes,environment, and lifestyle.

The National Institute of NursingResearch (NINR) supports researchacross diverse populations and set-tings to develop more personalizedstrategies to prevent and managethe adverse symptoms of illness.NINR-supported scientists are active-ly engaged in implementing clinicalapplications of genomics to acceler-ate discoveries that allow healthcareproviders and researchers to accu-rately predict what disease treatmentand prevention strategies will workin which groups of people. In con-trast to a one-size-fits-all approach,precision medicine challenges nurs-es to think genetically across spe-cialties and practice settings.

Nursing at the forefrontFor 15 years, the Gallup Honestyand Ethics poll has ranked nursingas the most trusted profession in theUnited States. This public trust placesnurses in the unique position to edu-cate individuals and their families on

the presence, absence, or future pos-sibility of disease to improve healthoutcomes and promote delivery ofpatient-centered care.

Essential competencies related togenetics have been developed fornurses with undergraduate andgraduate degrees. You can accessthese and other online resources forcontinuing education, professionalorganizations dedicated to nursinggenetics and genomics, and addi-tional information. (Visit: americannursetoday.com/genetics-clinical-setting for a list of resources.)

As nurses become more awareof genetics and the need to incor-porate genetic assessment intoeveryday practice, we’re initiatingand facilitating referrals to improvepatient care and outcomes. Howev-er, each state has a nursing scopeof practice regarding genetics andgenomics, so make sure you knowthe restrictions within your state.

As treatment becomes more indi-vidualized based on genetic profiles,nurses must acquire genetic and ge-nomic knowledge to provide thebest patient care. Primary care nurs-es knowledgeable in genetics andgenomics will be at the forefront ofthis new era in medicine.

Susan Montgomery is a genetic nurse navigator in therisk assessment program, department of clinical ge-netics, at Fox Chase Cancer Center in Philadelphia,Pennsylvania. Wendy A. Brouwer is a women’s health-care nurse practitioner in the breast medical oncologydepartment at M.D. Anderson Cancer Center in Hous-ton, Texas. Phyllis C. Everett is adult nurse practition-er in the multidisciplinary breast cancer program atthe Duke Cancer Institute in Durham, North Carolina.Elizabeth Hassen is a PhD candidate in the healthcaregenetics doctoral program and an instructor at Clem-son School of Nursing in Clemson, South Carolina. Tra-cy Lowe is a PhD candidate in the genetics iPhD pro-gram and an instructor at Clemson School of Nursing.Sheila B. McGreal is an assistant professor in the Col-lege of Nursing and Health Professions at Lewis Uni-versity in Romeoville, Illinois, and a cardiology nursepractitioner for the University of Chicago in Illinois.Julie Eggert is the Mary Cox Professor and healthcaregenetics doctoral coordinator at the Clemson Schoolof Nursing and the College of Behavioral Health andScience at Clemson University.

Selected referencesConsensus Panel. Genetics/Genomics Nurs-ing: Scope and Standards of Practice. 2nded. Silver Spring, MD: American Nurses As-sociation (ANA), International Society ofNurses in Genetics (ISONG); 2016.

Consensus Panel on Genetic/Genomic Nurs-ing Competencies. Essentials of Genetic andGenomic Nursing: Competencies, CurriculaGuidelines, and Outcome Indicators. 2nd ed.Silver Spring, MD: American Nurses Associa-tion; 2009.

Dorman JS, Schmella MJ, Wesmiller SW.Primer in genetics and genomics, article 1:DNA, genes, and chromosomes. Biol ResNurs. 2017;19(1):7-17.

Durmaz AA, Karaca E, Demkow U, TorunerG, Schoumans J, Cogulu O. Evolution of ge-netic techniques: Past, present, and beyond.Biomed Res Int. 2015; Article ID: 461524.

Loi M, Del Savio L, Stupka E. Social epige-netics and equality of opportunity. PublicHealth Ethics. 2013;6(2):142-53.

National Institutes of Health. What is precisionmedicine? September 5, 2017. ghr.nlm.nih.gov/primer/precisionmedicine/definition

Ormondroyd E, Oates S, Parker M, Blair E,Watkins H. Pre-symptomatic genetic testing forinherited cardiac conditions: A qualitative ex-ploration of psychosocial and ethical implica-tions. Eur J Hum Genet. 2014;22(1):88-93.

Schaa KL. Assessing patients with a genetic“eye”: Family history and physical assess-ment. In: Kasper CE, Schneidereith TA, Lash-ley FR, eds. Lashley’s Essentials of ClinicalGenetics in Nursing Practice. 2nd ed. NewYork, NY: Springer Publishing Company;2016; 191-214.

Understanding what test results mean can help you explain them to patients andtheir families, connect them to resources, and provide support.

Positive test results: • show a change in a particular gene, chromosome, or protein of interest. • may confirm a diagnosis, but generally can’t be used to predict the course or severity of a condition. • may provide options for prevention and management of the disorder.

Negative test results: • indicate no change in the gene, chromosome, or protein of interest. • virtually rule out a particular disorder, assuming the test is highly accurate and the individual’s symptoms can be attributed to other causes. • don’t rule out the presence of a mutation in another gene that could cause the same disorder.

Variant of unknown significance results: • indicate a finding of a variation in the DNA that’s not normal, but hasn’t yet been associated with a disorder in other people. • may be difficult to evaluate because everyone has common natural variations in their DNA (polymorphisms) that don’t affect health..

Interpreting genetic test results


Please mark the correct answer online.

1. Which statement about genetic processesis correct?

a. DNA inside the cytoplasm is transcribedinto messenger RNA (mRNA).

b. DNA on the ribosome is translated intoamino acids.

c. mRNA inside the nucleus is transcribed in-to DNA.

d. mRNA on the ribosome is translated intoamino acids.

2. Proteins that bind to DNA to condense itin the cell nucleus are called

a. genomes.b. chromosomes.c. histones.d. chromatins.

3. Epigenetic changes a. tag DNA, interfering with transcription.b. tag mRNA, interfering with transcription.c. do not affect how cells interpret genes. d. use enzymes to fine-tune geneexpression.

4. The correct term for a different version ofthe same gene that is distinguishable byphenotype or observable expression is

a. allele. b. chromatin.c. diploid cell.d. mutation.

5. Which of the following are structures withina nucleus that carry genetic information?

a. Alleles b. Methyl groupsc. Diploid cellsd. Chromosomes

6. Which is the type of mutation that arisesfrom inherited DNA in the gametes or sexchromosomes and is duplicated in every cell?

a. Diploidb. Germlinec. Somaticd. Transcription

7. Which statement about pharmacoge-nomics is not correct?

a. Pharmacogenomics is used in painmanagement to assess addictionpotential.

b. It’s helpful for determining drug choiceand response in psychiatry.

c. It’s the study of how a person metabolizesmedications based on personal geneticmakeup.

d. Pharmacogenomics information istypically not available on drug labels.

8. The genetic marker associated withopioid analgesic effectiveness is

a. SLC6A4.b. OPRM1.c. MTHFR.d. VKORC1.

9. An example of an adult-onset monogenicdisorder is

a. Gaucher disease.b. alcoholism.c. Parkinson’s disease.d. stroke.

10. When conducting a genetic assessment,the nurse should

a. not include first-degree cousins.b. not include siblings. c. obtain a two-generation family history.d. obtain a three-generation family history.

11. Which piece of information you learnduring a genetic assessment is a red flag?

a. An aunt with cardiovascular disease diedafter a sudden cardiac arrest.

b. A 60-year-old cousin had an ischemicstroke 2 years ago.

c. Three maternal relatives have beenaffected by the same disorder.

d. A patient from Vietnam has sickle celldisease.

12. The type of genetic testing thatdetermines an individual’s genetic risk for anetiologically complex disorder that involvesmultiple risk factors is

a. susceptibility.b. predictive.c. carrier. d. diagnostic.

13. Which statement about variant of un-known significance results of genetic testingis correct?

a. They may be difficult to evaluate becauseeveryone has common natural variationsin their cytoplasm that don’t affect health.

b. They may be difficult to evaluate becauseeveryone has common natural variationsin their DNA that don’t affect health.

c. They rule out a particular disorder,assuming the test is highly accurate andthe individual’s symptoms can beattributed to other causes.

d. They may confirm a diagnosis butgenerally can’t be used to predict thecourse or severity of a condition.

14. To support patients who are consideringor have undergone genetic testing, do all ofthe following except

a. provide information about the benefits ofgenetic testing, including the potentialability to determine a definitive diagnosis.

b. provide information about the risks ofgenetic testing, including the potential fordiscrimination based on genetic results.

c. discourage patients from discussing risksidentified through genetic testing withfamily members to avoid creatingunnecessary anxiety.

d. recommend health promotion andprevention practices based on genetic riskfactors and collaborate with others foroptimal care delivery.

POST-TEST • Genetics in the clinical setting Earn contact hour credit online at americannursetoday.com/article-type/continuing-education/

Provider accreditationThe American Nurses Association’s Center for Continuing Edu-cation and Professional Development is accredited as aprovider of continuing nursing education by the AmericanNurses Credentialing Center’s Commission on Accreditation.ANCC Provider Number 0023.

Contact hours: 1.49

ANA’s Center for Continuing Education and Professional Devel-opment is approved by the California Board of Registered Nurs-ing, Provider Number CEP6178 for 1.79 contact hours.

Post-test passing score is 80%. Expiration: 10/1/20

ANA Center for Continuing Education and Professional Devel-opment’s accredited provider status refers only to CNE activitiesand does not imply that there is real or implied endorsement ofany product, service, or company referred to in this activity norof any company subsidizing costs related to the activity. Theplanners and all authors of this CNE activity except Everett havedisclosed no relevant financial relationships with any commer-cial companies pertaining to this activity. Everett is a speaker forMyriad Genetics and a sales representative for Imperium HealthResources. Peer review found no evidence of bias. See the lastpage of the article to learn how to earn CNE credit. See thebanner at the top of this page to learn how to earn CNE credit.

CNE: 1.49 contact hours

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These websites offer helpful resources for nurses interested in learning more aboutgenetics and genomics.

American Nurses Assocation—Essentials of Genetic and Genomic Nursing: Competen-cies, Curricular Guidelines, and Outcome Indicators

genome.gov/pages/careers/healthprofessionaleducation/geneticscompetency.pdf

American Nurses Association and International Society of Nurses in Genetics—Essential Genetic and Genomic Competencies for Nurses with Graduate Degrees

genome.gov/pages/health/healthcareprovidersinfo/grad_gen_comp.pdf

Centers for Disease Control and Prevention—Training programs and coursescdc.gov/genomics/training/

Genetics/Genomics Competency Center—Online repository of peer-reviewed ge-nomics educational materials, with links to courses, websites, and articles

genomicseducation.net/

International Society of Nurses in Genetics—Dedicated to fostering scientific andprofessional growth of nurses in human genetics and genomics worldwide

isong.org

National Institutes of Health: Genetics Home Reference—Consumer-friendly infor-mation about the effects of genetics on health

ghr.nlm.nih.gov/

The Surgeon General’s Family Health History Initiative—Information and templateto collect a family history

hhs.gov/familyhistory

University of Cincinnati/Cincinnati Children’s Hospital Medical Center—Geneticcounseling: graduate program

geneticcounseling4u.org/online_courses/online_courses.html

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