Hila Milo Rasouly|Maddalena Marasà
Pitfalls and Challenges of Consenting to Genetic Research Studies
Columbia University Irving Medical Center|Columbia University Irving Medical Center
see clinical research page 1267 see clinical research page 1267 genetics introduced fields medicine growing awareness dependence genetics data clinical information1groopman ee rasouly hm gharavi ag genomic medicine kidney diseasenat rev nephrol 2018 14 83104crossref pubmed scopus 78 google scholar longitudinal studies combining deepphenotyping genetic testing diverse populations required ensure evidencebased usage genetics medicine comprehensive clinical information diverse genetic ancestries crucial improvement genetic variants interpretation2petrovski goldstein db unequal representation genetic variation across ancestry groups creates healthcare inequality application precision medicinegenome biol 2016 17 157crossref pubmed scopus 101 google scholar 3popejoy ab fullerton sm genomics failing diversitynature 2016 538 161164crossref pubmed scopus 805 google scholar genetic research enabled discovery many genes causing significantly increasing risk kidney diseases uncovered difficulty clinically diagnosing certain genetic disorders nephrology4lata marasa li et alwholeexome sequencing adults chronic kidney disease pilot studyann intern med 2018 168 100109crossref pubmed scopus 108 google scholar example individuals incomplete penetrance alport syndrome easly misdiagnosed unless genetic testing performed largescale genetic testing individuals chronic kidney disease allow us grasp phenotypic variability known genetic disorders addition genetics already used eligibility criterion several clinical trials alport syndrome dent disease fabry disease examples5us national library medicine clinicaltrialsgov available httpsclinicaltrialsgov accessed september 20 2018google scholar see supplementary references stratification cohorts based genetic markers mutations empowered research medical fields led new treatments molecular diagnoses could facilitate design clinical trials nephrology estimated 10 adults reaching endstage renal disease mendelian form kidney disease however even congenital forms kidney diseases diagnostic rate reported 10 151groopman ee rasouly hm gharavi ag genomic medicine kidney diseasenat rev nephrol 2018 14 83104crossref pubmed scopus 78 google scholar although new genes causing mendelian forms kidney diseases new genetic variants predisposing common forms kidney diseases periodically identified larger cohorts wellcharacterized patients needed hasten rate discovery although benefits genetic research clear ethical concerns also exist explaining allocation research funds ethical legal social implications research program elsi part launch human genome project risk genetic information misuse also led many countries approve laws protecting citizens undergoing genetic testing genetic information nondiscrimination act united states general mandate prohibiting genetic discrimination european union nevertheless forms discrimination based genetic information covered legal measures addition controversial use dna criminal system general distrust minorities towards government reported preventing minorities undergoing genetic tests participating genetic research3popejoy ab fullerton sm genomics failing diversitynature 2016 538 161164crossref pubmed scopus 805 google scholar highlighting importance informed consent process information provided consent process crucial build maintain trust research participants ensure realistic expectations aspects genetic research unique familial implications results well risk factors shared certain minority groups ie apol1 specific information needs covered informed consent process thoroughly discussed includes indepth discussion risks benefits6henderson ge wolf sm kuczynski kj et althe challenge informed consent return results translational genomics empirical analysis recommendationsj law med ethics 2014 42 344355crossref pubmed scopus 53 google scholar although genetic counselors used consent participants genetic studies spreading genetic research shortage genetic counselors constrained studies use clinical research coordinators crcs without formal training genetics recruiters genetic research troost et al7troost jp hawkins j jenkins dr et alconsent genetic biobanking diverse multisite ckd cohortkidney int rep 2018 3 12671275abstract full text full text pdf scopus 6 google scholar report recruitment patients chronic kidney disease genetic biobank part cprobe clinical phenotyping resource biobank core prospective observational study conducted 7 sites total 1628 individuals recruited cprobe also invited enroll genetic biobank strikingly vast majority 955 cprobe participants consented genetic biobank first approach generating diverse cohort participants terms race ethnicity educational level diversity remarkable given previous reports highlighting difficulty recruiting minorities research3popejoy ab fullerton sm genomics failing diversitynature 2016 538 161164crossref pubmed scopus 805 google scholar addition cprobe longitudinal study participants periodically asked reconsent study well genetic biobank protocol enabled investigation potential demographic clinical socioeconomic factors associated specific refusal genetic biobank despite consent nongenetic components 73 cprobe participants declined consent genetic biobank first visit shed light motivations decliners well potential misunderstandings individuals enroll similarly although small number participants 50 individuals changed consent status time information regarding reasons would extremely valuable possible reason decline first visit may lack time unwillingness donate additional blood sample decision withdraw followup visit may uncover inconsistencies informed consent process misunderstandings potential ethical concerns although surveys qualitative interviews participants desirable answer questions analysis provided troost et al7troost jp hawkins j jenkins dr et alconsent genetic biobanking diverse multisite ckd cohortkidney int rep 2018 3 12671275abstract full text full text pdf scopus 6 google scholar enables us uncover patterns recruitment site factor significantly associated enrollment rate first approach followup visits pointed authors several elements impact site recruitment performance figure 1 particular crc experience confidence consenting genetic research play key role although troost et al7troost jp hawkins j jenkins dr et alconsent genetic biobanking diverse multisite ckd cohortkidney int rep 2018 3 12671275abstract full text full text pdf scopus 6 google scholar reported shared training protocol recruiters changes consent status lowperforming sites well questions raised participants across sites point possible limited discussion genetic biobanking informed consent process likewise lack difference consent rate individuals without family history kidney disease may reflect lack understanding aims genetic biobanking experience crcs familiar consenting genetic studies likely engage potential participants prompt ask questions centralized professional training crcs recruiting genetic studies desirable provide skills needed adequately uniformly approach potential participants similarly differential provider endorsement genetic biobanking could affect site performance genetics trainings providers may also increase capacity discuss benefits genetic research patients additional element potentially affecting consent rate participant genetic literacy even though troost et al7troost jp hawkins j jenkins dr et alconsent genetic biobanking diverse multisite ckd cohortkidney int rep 2018 3 12671275abstract full text full text pdf scopus 6 google scholar observe significant association education consent rate education shown poor predictor genetic literacy future studies directly measuring genetic literacy may uncover association consent rate well fluctuations consent status prompt implementation patient education tools part recruitment genetic research one explicit goals genetic biobank enroll diverse population terms race ethnicity important carefully analyze impact selfreported ancestry consent rate reported previous studies individuals selfidentified african american lowest consent rate 7 compared groups difference statistically significant first approach group also highest rate individuals declining biobanking followup visit despite intitial consent however statistical difference based ancestry disappeared followup visits longitudinal participation study familiarity study team may alleviate factors previously reported preventing minorities participating genetic studies mistrust similarly studies suggested diverse crc teams effective recruiting diverse populations worth mentioning option genetic biobanking part broader study consent form may increased consent rate genetic component hand authors report decline rate cprobe study know whether reported consent rate underestimation differential participation rate research individuals different ancestries recruitment efforts like reported troost et al7troost jp hawkins j jenkins dr et alconsent genetic biobanking diverse multisite ckd cohortkidney int rep 2018 3 12671275abstract full text full text pdf scopus 6 google scholar provide crucial resources implementation genetics nephrology one multiple studies collecting longitudinal clinical information biosamples including genetic biobanking patients kidney diseases curegn ckid cric find neptune aask apollo kpmp8rasooly rs akolkar b spain lm et althe national institute diabetes digestive kidney diseases central repositories valuable resource nephrology researchclin j soc nephrol 2015 10 710715crossref pubmed scopus 9 google scholar although many studies offer return genetic results participants report recently issued national academies sciences engineering medicine nasem encouraged researchers regulators return information study participants9botkin jr mancher busta er et alreturning individual research results participants guidance new research paradigm national academies press washington dc2018crossref google scholar unfortunately studies retention mechanisms thus complicating recontact participants return results collection additional clinical information needed refine interpretation genetic findings would interesting see whether cprobe study longitudinal study offer opportunity return genetic results future however option returning results introduces additional level complexity genetic informed consent process thus reinforcing need standardized procedures policies9botkin jr mancher busta er et alreturning individual research results participants guidance new research paradigm national academies press washington dc2018crossref google scholar figure 1 conclusion cprobe experience demonstrates regardless demographic clinical factors vast majority patients kidney diseases willing enroll genetic biobank also points potential impact sitespecific factors consent rate thus highlighting need standardized procedures informed consent genetic research including educational tools providers potential participants well centralized training crcs enrolling genetic studies finally studies assessing impact return genetic results consent rate evaluating participant understanding perception genetic research nephrology would highly valuable authors declared competing interests download docx 01 mb help docx files supplementary references consent genetic biobanking diverse multisite ckd cohortkidney international reportsvol 3issue 6previewthe goal study examine patterns likelihood consent genetic research among participants prospective kidney disease cohort biobank determine demographic clinical socioeconomic factors linked consent ongoing future genetic research fulltext pdf open access