case studies and informed consent...2015/10/14  · case studies and informed consent ashley cannon,...

CaseStudiesandInformedConsent

AshleyCannon,PhD,MS,CGCGenomicsImmersionCourse

10/14/2015

CaseStudy1

• YouarestudyingthegenemutationsintheNF1geneinthehopeofestablishinggenotype-phenotypecorrelations.Oneoftheparticipantsinthestudycontactsherphysiciantoseeifhermutationhasbeenidentified.Shehasjustlearnedthatsheispregnantandsheisinterestedinhavingprenataldiagnosistodetermineifthefetuswillbeaffectedbythisautosomaldominantdisorder.YoucheckyourrecordsandfindthatthemutationwasindeedfoundandisastopmutationthatleadstoprematureterminationoftranslationoftheNF1geneproduct.

CaseStudy2

• Youarestudyingtheimpactofgenesinvolvedintheetiologyofcoloncancer.Inonepersonwithnonpolyposiscoloncanceramissensemutationisfoundinoneofthemismatchrepairgenes.Themutationhasneverbeenseenbefore,eitherinthegeneralpopulationorinaffectedindividuals.Thestudyparticipanthastwosiblingswhoareinterestedinbeingtested,andhethereforerequeststhatthelaboratoryprovidesuchtesting,sincenocommerciallaboratoryissofarpreparedtooffertestingforthisparticulargene.

CaseStudy3

• Youareconductingastudyinwhichparticipantsareaskedtoprovidefamilyhistoryofdepression.Bloodsamplesarealsorequestedfromrelatives.Onerelativeisapproachedandexpressesangerathavinghisdiagnosisrevealed.Herefusestogiveabloodsample,andrequeststhatinformationabouthimberemovedfromthestudy.

CaseStudy4

• YouareinvolvedinastudyofanativeAmericantribeknowntohaveahighincidenceoftype2diabetes.Yougaintheirconsenttodoageneticstudyintendedtoidentifypossiblecontributorstothatrisk.Youlearnthatthereisalsoahighfrequencyofalcoholisminthetribeandnowwishtoconductastudyseekinggeneticassociationwiththistrait.

CaseStudy5

• Youareconductingawholeexomesequencingprojectaimedatidentificationofageneassociatedwithararephenotypeinayoungchild.Inthecourseofdataanalysis,youdiscoverthatthechildisacarrierforcysticfibrosisandalsoisheterozygousforastopmutationintheBRCA1gene.

Clinical/Research Genomics

• Informedconsent• ConfidentialityandPrivacy

• Patientautonomy• Testingofminors• Dutytowarn• Incidentalfindings• Variantresults

BIGIssues: OtherConsiderations:• Geneticdiscrimination• Potentialpsychologicalharm

• Ultimatebenefit

InformedConsent

• Theprocessbywhichthetreatinghealthcareproviderdisclosesappropriateinformationtoacompetentpatientsothatthepatientmaymakeavoluntarychoicetoacceptorrefusetreatment.(Appelbaum,2007)• Competence- thecapacitytomakearationalchoice• Information- amountandaccuracy• Understanding- barriersincludefear,denial,sickness,level

ofeducation,language• Voluntariness

InformedConsent

• Specificrisks,benefitsandlimitationsoftesting

• Incidentalfindings• Maynotberequiredbythetestinglaboratory

• Researchopportunitieswithclinicaltestinglaboratories

Clinical: Research:• Increasinglycomplex• Futureresearch• Disclosureofandreplicationofresults

• Narrow,broad,andtieredconsent

UABInformedConsentForm

• PurposeoftheResearch• ExplanationofProcedures• IncidentalFindings• ACMG

• RisksandDiscomforts• IncidentalFindings• Psychologicalimpact• Consanguinity/non-paternity

• Benefits• Alternatives

• Confidentiality• GINA

• VoluntaryParticipationandWithdrawal

• CostofParticipation• PaymentforParticipationin

Research• SignificantNewFindings• Questions• LegalRights

Thankyou!Questions?

• ashleycannon@uabmc.edu

• Dr.Korf• DanaHollenbeck

Acknowledgements Resources:• Geneticdiscrimination• Potentialpsychologicalharm

• Ultimatebenefit

Thankyou!

• ashleycannon@uabmc.edu• 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>