case studies and informed consent...2015/10/14 · case studies and informed consent ashley cannon,...
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CaseStudiesandInformedConsent
AshleyCannon,PhD,MS,CGCGenomicsImmersionCourse
10/14/2015
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CaseStudy1
• YouarestudyingthegenemutationsintheNF1geneinthehopeofestablishinggenotype-phenotypecorrelations.Oneoftheparticipantsinthestudycontactsherphysiciantoseeifhermutationhasbeenidentified.Shehasjustlearnedthatsheispregnantandsheisinterestedinhavingprenataldiagnosistodetermineifthefetuswillbeaffectedbythisautosomaldominantdisorder.YoucheckyourrecordsandfindthatthemutationwasindeedfoundandisastopmutationthatleadstoprematureterminationoftranslationoftheNF1geneproduct.
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CaseStudy2
• Youarestudyingtheimpactofgenesinvolvedintheetiologyofcoloncancer.Inonepersonwithnonpolyposiscoloncanceramissensemutationisfoundinoneofthemismatchrepairgenes.Themutationhasneverbeenseenbefore,eitherinthegeneralpopulationorinaffectedindividuals.Thestudyparticipanthastwosiblingswhoareinterestedinbeingtested,andhethereforerequeststhatthelaboratoryprovidesuchtesting,sincenocommerciallaboratoryissofarpreparedtooffertestingforthisparticulargene.
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CaseStudy3
• Youareconductingastudyinwhichparticipantsareaskedtoprovidefamilyhistoryofdepression.Bloodsamplesarealsorequestedfromrelatives.Onerelativeisapproachedandexpressesangerathavinghisdiagnosisrevealed.Herefusestogiveabloodsample,andrequeststhatinformationabouthimberemovedfromthestudy.
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CaseStudy4
• YouareinvolvedinastudyofanativeAmericantribeknowntohaveahighincidenceoftype2diabetes.Yougaintheirconsenttodoageneticstudyintendedtoidentifypossiblecontributorstothatrisk.Youlearnthatthereisalsoahighfrequencyofalcoholisminthetribeandnowwishtoconductastudyseekinggeneticassociationwiththistrait.
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CaseStudy5
• Youareconductingawholeexomesequencingprojectaimedatidentificationofageneassociatedwithararephenotypeinayoungchild.Inthecourseofdataanalysis,youdiscoverthatthechildisacarrierforcysticfibrosisandalsoisheterozygousforastopmutationintheBRCA1gene.
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Clinical/Research Genomics
• Informedconsent• ConfidentialityandPrivacy
• Patientautonomy• Testingofminors• Dutytowarn• Incidentalfindings• Variantresults
BIGIssues: OtherConsiderations:• Geneticdiscrimination• Potentialpsychologicalharm
• Ultimatebenefit
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InformedConsent
• Theprocessbywhichthetreatinghealthcareproviderdisclosesappropriateinformationtoacompetentpatientsothatthepatientmaymakeavoluntarychoicetoacceptorrefusetreatment.(Appelbaum,2007)• Competence- thecapacitytomakearationalchoice• Information- amountandaccuracy• Understanding- barriersincludefear,denial,sickness,level
ofeducation,language• Voluntariness
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InformedConsent
• Specificrisks,benefitsandlimitationsoftesting
• Incidentalfindings• Maynotberequiredbythetestinglaboratory
• Researchopportunitieswithclinicaltestinglaboratories
Clinical: Research:• Increasinglycomplex• Futureresearch• Disclosureofandreplicationofresults
• Narrow,broad,andtieredconsent
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UABInformedConsentForm
• PurposeoftheResearch• ExplanationofProcedures• IncidentalFindings• ACMG
• RisksandDiscomforts• IncidentalFindings• Psychologicalimpact• Consanguinity/non-paternity
• Benefits• Alternatives
• Confidentiality• GINA
• VoluntaryParticipationandWithdrawal
• CostofParticipation• PaymentforParticipationin
Research• SignificantNewFindings• Questions• LegalRights
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Thankyou!Questions?
• Dr.Korf• DanaHollenbeck
Acknowledgements Resources:• Geneticdiscrimination• Potentialpsychologicalharm
• Ultimatebenefit
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Thankyou!
• [email protected]• Acknowledgements• Dr.Korf- casestudies• DanaHollenbeck-consentslideinformation
• Helpfulresource:AmericanCollegeofMedicalGeneticsandGenomics, ACMGRecommendationsforReportingofIncidentalFindingsinClinicalExomeandGenomeSequencing, availableat <http://www.acmg.net/docs/ACMG_Releases_Highly-Anticipated_Recommendations_on_Incidental_Findings_in_Clinical_Exome_and_Genome_Sequencing.pdf>