Nurseshavealwaysbeenacornerstoneofhealthcareliteracyandeducation.Itisessentialthat,inthecomplexandquicklychangingworldofgeneticsandgenomics,theymaintainthisposition.Geneticsisthestudyofthefunctionofasinglegene;whereasgenomicswidenstheviewtoincludeallgenes,andtheirexpressionandeffectsoncellgrowth,utilizingDNAandbioinformatics(whichistheuseofbiologicalknowledgetoorganizeandanalyzelargeamountsofdata).Genomicsincludestheemergingfieldsof‘omics,’suchasproteomics(studyofproteinstructures),metabolomics(studyofchemicalcellularmetabolites),andtranscriptomics(thestudyofRNAmolecules).

Nurseswillsoonbecomeasfamiliarwiththeomicsastheyarewithvitalsigns.Theywillblendthisnewknowledgeintotheirpatientcare,whilecontinuingtoaddress,withpatientsandcommunitymembers,theethical,legal,andsocialimplications(ELSIs)offuturehealthinterventions.TheseELSIimplicationswillrequirebasicgeneticandgenomichealthliteracyandanunderstandingoftheexpectationsofthepublic.Theneedforthenursetohavebaselinecompetenciesintheseareashasbeenwellestablished(AmericanNursesAssociation,2006;Calzoneetal.,2012;Gelling,2013).Themultiplefindingsfromstudiesthathaveexploredhealthbehaviorsandattitudestowardsgenetictestingsuggestthatpeoplewanttoknowtheirgeneticsequencingresults,soastobetterunderstandtheirpersonalhealthprofiles(Hagaetal.,2013;Hodgson&Gaff,2013).Theever-expandingdiscoveriesingenomicschallengethenursetobecompetentingenomicmedicineandknowledgeableinassociated,andoftendifficult,ethicalsituations(Milton,2012).

Thegenomicrevolutionbeganwiththecompletionofthesequencingofthehumangenomein2003.Inthepast10years,wehaveseenalmostdailyreleasesofstudiesandreportslinkingspecificchangesingenomeswithdiseases.Newgenomicdiscoveriesarevisibleineveryarena.Overthepasttwodecades,therehasbeenagrowingrealizationofthecomplexityofdiseaseandthepathogenesisofbothacuteandchronicillness(Hamilton,2009;Lea,2008).Wenowknowthatcancerisnotonedisease;ratheritoccursindifferentformswitheachformbeingadifferentdisease.Ourunderstandingofseveral‘common’medicaldisordersnowdemonstratesthatthesedisordersareanythingbutcommon;theydifferintheirpredisposition,initiation,andpathofprogression.Somethingasprevalentashypertensionhasproventobeacomplexandconfusingdisorderwithnumerousetiologiesandmultipletriggers.

Currently,wholegenomesequencing(WGS)servesprimarilyasaresearchtool,butthatisrapidlychanging.WearenowseeingtheuseofWGSintheclinicaldiagnosisandtreatmentofcomplexillnesses(Tabor,Berkman,Hull,&Bamshad,2011).Theimpactofgenomicsresearchonhealthcareandsocietydependsonourabilitytodealwiththecomplexityofthegenomicrevolutionandtheintegrationofknowledgetoinformourethical,legal,andsocialissues(Milton,2013).

Ethical,Legal,andSocialImplications

Theconceptsofautonomy,respect,beneficence,nonmalificence,andjusticeprovideethicistswithacommonlanguageandasetofbeginningassumptionsuponwhichtheycandiscussthedilemmaspresentedtothem.Althoughtheseconceptscanframethediscussion,theyarelimitedinprovidinganswerstothenewandcomplexquestionsraisedbygenomics.Forexample,theconceptofautonomywouldsupporttherightofpersonstoobtaintheirgenomicinformation,butitcouldalsobeusedtodefendtheirrighttorefusesuchinformation.ConsiderawomanwhohadbeenfoundtohaveaBRCA1(breastcancersusceptibilitygene)variantduringgenetictestingforadifferentdisorder,inlightoftheconceptofautonomy.Shemaychoosenottolearntheresultsofthisincidentalfindingthatshehadnotconsentedto.Shehastherighttorefusethatdiscoveryinformationfromherhealthcareprovider.IfshedoeselecttolearnherBRCA1status,thequestionarisesastowhethershehasanyobligationtosharethatinformationwithhersistersorhermotherwhomayhavea1:2chanceofalsocarryingthedisease-causinggene.Doesshehavetherighttotestherchild?Shouldthechild’srighttoautonomyreignsothatshedelaysinvolvingherchilduntilthechildcomesofageand‘consents’togenetictesting?Everyethicalquestioncanbediscussedandframedtodefendortocounteranyassumed‘correct’decision.

Today,professionalorganizationsareactivelyprovidingguidanceandrecommendationsregardingthesequestions.TheAmericanNursesAssociation(2006)hasgatheredimportantinformationaboutethicalchallengesconfrontedbypeoplereceivinggenetic-andgenomic-basedhealthcare.Professionalcodesofethics,includingthatoftheAmericanNursesAssociationandthoseofprofessionalorganizationsinothercountries,suchasCanadaandtheUnitedKingdom,provideguidance.Thesecodesprovideaframeworkfornurseswhorespondtotheexpansionofthescienceofgenomicsinfieldssuchasgeneticsandgenomics.Additionally,theAmericanCollegeofMedicalGeneticsandGenomicshasrecentlypostedacontroversialrecommendationforthereportingofincidentalfindings(Greenetal.,2013).Asthescienceadvances,specialtyorganizationswillalsoproviderecommendationsandguidance.Todothiseffectively,abasicframeworkisneededtounderstandthereasonandtherationaleforspecificdecisionssoastoprovideaconsensusofleadership(Evans&Rothschild,2012;Levenson,2012).

Asknowledgeofgenomicsincreasinglyinfluencesclinicalcare,theethical,legal,andsocialimplicationsofcaredecisionsdemandfurtherinquiryanddiscussionwithinhospitals,medicalpractices,andcommunities.InmyroleasDirectorofClinicalResearchattheInovaTranslationalMedicineUnit,Iworkwithover1500familieswhohaveenrolledwiththeirnewbornstoparticipateasafamilyinwholegenomesequencingresearch.Thesefamiliesareparticipatingintheexplorationofmolecularcausesofprematurityandthelongitudinalstudyofgenomiccorrelationstochildhoodhealthoutcomes.Wearesearchingforgenomiccorrelationsastocausesofprematurebirth;butinthecourseofthatresearchwemay‘incidentallyfind’ababywithaBRCA1variant.Thisgeneticvariantissolelyrelatedtotheadultonsetofbreastcancer.Shouldthatresultbereportedtothemotherandfather?Wouldtheymakechoicesbasedonthatknowledgethatmayaffectthechild?Shouldthechildhavetherighttochoosewhetherornotshewantstoknowthisfinding?Whataboutotherchildren?Thequestionremainsastowhetheramothershouldbetoldaboutthatgeneticsusceptibilityasitmayrelatetoherreproductivehealth?

Theethicalchallengesinourgeneticandgenomiceraregardingquestionsliketheseareintertwinedwithlegalandsocialissuesthatleadtodifferentinterpretationsofdataprivacy.Thehealthcareworldhasnumerousprivacyregulations.However,genomicsisdifferentbecause,althoughthegenomicinformationbelongstoanindividual,itisrelevanttothefamily.Thepatient’sparents,siblings,andchildrenshareroughly50%ofthatgenomicbackground,whichiscentraltheiridentity.Patients’geneticinformationcanchangetheirperspectiveofwhotheyare,whotheirparentsare,theirplaceintheworld,andtheirtimeintheworld.

Allhealthcareprofessionalsmusthonortheprinciplesofprivacyandconfidentiality.Thetechnicalchallengesofcodingprotectedhealthinformationthroughunique,unrelated,numberingsystemsthatarereadbycomputers,aswellasthechallengesofstoringsuchgrand-scaledataonsecuresystems,arecreatingnewmarketsandnewrequirementstosupportconfidentiality,patientprivacy,andchoice.Theriskstoconfidentialityrelatedtogenomicinformationhaveprofoundregulatoryandinsuranceimplications.

Ethicalissuesininformedconsenthavegainedgreaterurgencybecauseoftherapidadvancesingenomics.Genetic-informedconsentismorethanasigneddocumentandmorethana‘permission’toperformgenetictesting.Itinvolvesaninteractionbetweenthehealthcareprovider/researchteammemberandthepatient/participant.Itrequireslisteningandreviewingparticipants’specificneedstoascertaintheirunderstanding.Somehaveevenarguedthatitisnotpossibletoprovideinformedconsentforgeneticresearchbecauseknowledgeisadvancingsorapidlythatwedonotknowwhattestswillbepossibleorwhatvariantsmaybeidentifiednextweek.

Conclusion

Theincreasingutilizationofgenomicsinresearchandclinicalcarerequiresthedevelopmentofabioethicalframeworkthatconsiderstheethical,legal,andsocialimplicationsnecessarytoadvancehealthcareandincorporategenomicinformationintohealth-relatedpractices.Withscientificbreakthroughsemergingdaily,forexamplethediscoveryofbacterialgenomesandtheirinteractionswithhumangenomesastheyaffecthealthanddisease,nursesarefacedwithmorequestionsthananswers.Thetranslationofnewknowledgeanddiscoveriesrequirestheintegrationofscienceintopractice.Therearenoeasyanswerstothesedifficultethicalchallenges.Sciencewillcontinuetopushourpracticeoutinfrontofour‘comfortzone.’Nursesneedtodevelopguidingresourcesandrecommendations,andestablisheducationalcompetencies,toprovideforthechallengesofethical,legal,andsocialimplicationsingenomicnursing.

KathiC.HuddlestonPhD,RN,CNS,CCRC
Email:kathi.huddleston@inova.org

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