part 6 - primezoneprimezone.edu.au/resources/pdf/cleverly used genes activity.pdf · evolution and...

Part6.4

1Evolution and Heredity • Activity 6.4 Cleverly Used Genes e

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PeterandhisfamilyliveonasmallfarminWesternAustralia.Peterworkslonghoursonthefarm,sixtosevendaysaweek,makingamodestincometosupporthisfamily.InaddiAontoseveralothercrops,Peterhasbeengrowingcanolaonhisfarmforthelast10years(canolaisaplantthatisgrownforitsoil,whichisusedinproductslikemargarineandcookingoil).Hiscanolacropshavebeenaffectedbyweedsthough,whichhavereducedhisyields.PeterbaHlesweedsinhiscanolacropsbysprayingthemwitharangeofcostlyherbicides.Heworriesabouttheeffectoftheseherbicidesontheenvironment.Peter’sfriend,Geoff,farmsgeneAcallymodified(GM)canolathathasbeenmodifiedtoberesistanttoaparAcularherbicide.Thisherbicidekillsarangeofdifferentweeds,soGeoffcansprayhiscropswithfewerherbicidestokillweeds,withoutaffecAnghiscanolaplants.PeterwantstotrygrowingGMcanola,becausehethinksitwillmakethecropseasiertomanageandincreasehisyields.Hisdaughter,Leah,isunsureaboutherdad’sideatotrygrowingGMcanola,itmightmakelifeeasier,butherfriendssayGMcropsareunsafeandcontrolledbylargemoney-grabbingcompanies.Peter’sneighbour,Sally,whoisanorganicfarmer,hastoldhimheshouldn’tgrowunnaturalGMcropsthatcouldcontaminateherfarm.

ShouldPetertrygrowingGMcanola?


Doweknowenoughaboutthesafetyof

GMfoodstobeeaAngthem?

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AreGMplantsgoodnewsorbadnews

fortheenvironment?

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DowereallyneedGMcrops?

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DoGMplantsbenefitsmallfarmers,oraretheyjustatoolforlargecompanies

tomakemoney?

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ShouldPeterhavetherighttogrowGM

plantsnexttoanorganicfarm?

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Isitrighttointerferewithnature

bymovinggenesbetweenspecies?


ControllingweedsincanolaWeedsaffectcanolacropsbycompeAngfornutrients,sunlightandwater.Farmerscanreduceweedsmechanically(byAlling),butthisdegradesthetopsoil.ToreducetheneedforAlling,manyfarmersuseherbicidestokillweeds.WithconvenAonalcanola,theyapplyherbicidebeforeplanAng,toclearthefieldofweeds.Later,thegrowingcropisoWensprayedwithadifferentherbicidetoremoveclover,thistlesandcapeweed.Grassyweedsarecontrolledbydifferentherbicidesagain.

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GMcrops:BenefitstotheenvironmentOnetypeofGMcanolaallowsfarmerstousethebroadspectrumherbicideglyphosate(Roundup®).GlyphosateisbeHerfortheenvironmentthanmanyoftheherbicidesitreplaces,becauseitislesstoxicandlesslikelytocontaminatewaterwaysandsoils.Becausebroadspectrumherbicidesremoveabroadrangeofweeds,farmersgrowingGMcanolacanusefewerherbicides.

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GMcrops:Benefitstotheenvironment(side2)

GMcanolareducestheneedforAllingpriortoplanAng.AreducAoninAlling,helpstoprotectsoilsfromerosion,nutrientandwaterloss.Onaglobalscale,GMcropshavereducedpesAcideuse,CO2emissions,andlandclearingforagriculture(duetoincreasedyields).

Controllingweedsincanola(side2)Broadspectrumherbicidesareherbicidesthatkillabroadrangeofweeds.Theycan’tnormallybeusedongrowingcanolacrops,becausetheyalsokillcanola.GMcanolahasbeendevelopedtoberesistanttoparAcularbroadspectrumherbicides.Beingabletouseoneherbicidetokillarangeofweedsinthegrowingcrop,meansfarmerscanreducetheirherbicideuse.

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HowcommonareGMcropsinAustralia?•  TheonlycommerciallygrownGMcropsin

AustraliaarecoHonandcanola.•  Pestand/orherbicide-resistantGMcoHon

hasbeengrowninAustraliasince1996,andherbicideresistantGMcanolasince2008.

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GenesMostoftheDNAincellsispackagedintochromosomes.GenesarearrangedalongthesechromosomesandcarrytheinstrucAonstomakemolecules,suchasproteins.TofuncAonproperly,eachcelldependsonthousandsofproteinsdoingtherightjob,intherightplace,attherightAme.

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Genes(side2)Aplant’scompletesetofDNA,containingalltheinstrucAonsrequiredtomakeit,iscalleditsgenome.

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HowcommonareGMcropsinAustralia?(side2)GMcarnaAonplantsthatweredevelopedfortheirbluecolour(byacompanyinMelbourne)arecommerciallyavailableinAustralia.

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GMcrops:Effectsontheenvironment

Somegroupsareconcernedthat:•  GMplantscouldcross-breedwithother

plants,transferringgenes(e.g.forherbicideresistance)intoplantsintheenvironment.

•  Pest-resistantGMplantsproduceasubstancethatcouldbetoxictonon-targetinsectspeciesandcouldaffectsoilhealth.

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GMcrops:Effectsontheenvironment(side2)

•  GMseedscouldescapeintotheenvironment.

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GMtechnology(side2)Inplants,thegeneforadesiredtrait(likepestresistance)canbeinsertedintotheplant’sgenomeusingabacteriumoraminiaturegun.

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GMtechnologyAgeneAcallymodifiedorganism(GMO)isonethathashaditsDNAsequencechangedbyinserAng(orremoving)agene.

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GMcropsandmulGnaGonalsAreGMplantsjustawayforlargecompaniestocontrolagricultureandmakemoney?Orarecompaniesjus;fiedinexpec;ngareturnontheirinvestmentindeveloping,tes;ngandgeAngapprovalsforGMplants?•  FarmersthatgrowGMcropsoWenhavea

contractwiththecompanythatownsthetechnology.ThissetsoutcondiAonsforgrowingtheplants,andrequiresfarmerstobuynewseedeachyear,ratherthanbeingabletosaveseedfromthisyear’scroptoplantnextyear.

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RegulaGngGMcropsinAustralia

GMcropsareregulatedthroughtheCommonwealthGeneTechnologyAct2000andstatelegislaAon.ThisaimstoidenAfyandmanageanyriskswithgenetechnology.FederalapprovalisneededtobeabletoreleaseGMplantsinAustralia.ThedecisiononwhethertoallowGMcropstobegrown,isuptoindividualstates.TasmaniaandtheACT,forexample,don’tallowcommercialGMcrops.

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RegulaGngGMcropsinAustralia(side2)

AllgeneAcallymodified(GM)foodsmustbeassessedforsafetybyFoodStandardsAustraliaNewZealand(FSANZ).FoodsfromGMcropsmustbelabelledwiththewords“geneAcallymodified”,togivepeopleachoiceinwhattheyeat.

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GMcropsandmulGnaGonals(side2)•  Somenon-profitorganisaAonsprovideGM

technologyforfree,suchasGMplantsthatarerichinnutrientsforpeopleindevelopingcountries.

•  GMcropsbenefitbothsmall-andlarge-scalefarmers.In2013,over90%offarmerswhochosetogrowbiotechcrops,weresmall,poorfarmersindevelopingcountries.

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GMcrops:AgriculturalbenefitsGMcropscan:•  reducepestsandweeds•  reducepesAcideuse•  increaseyieldsandprofits•  reduceplantdiseases

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GMfoodsafetyToxicityandallergensSomepeopleareconcernedthatinserAngnewgenesintoplantcells,couldlettheplantproduceproteinsthataretoxic,orcauseanallergicreacAon.Beforetheyareapproved,GMfoodsarecarefullyassessedfortoxinsandallergens.Naturallyoccurringallergens(suchasinpeanuts),canactuallyberemovedfromfoodsthroughgeneAcmodificaAon.NutriAonGMfoodsarenutriAonallycomparabletotheirnonGMcounterparts,ifnotbeHer.Forexample,AustraliaisdevelopingGMbananasthatarehighinvitaminA,tohelpfightvitaminAdeficiencyindevelopingcountries.

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GMfoodsafety(side2)

AnAbioAcresistanceSomepeopleareconcernedthatGMfoodcouldtransferanAbioAcresistancegenestobacteriainourbodies,makingdiseaseshardertotreatwithanAbioAcs.AWernumerousstudies,theWorldHealthOrganizaAonandtheEuropeanCommissionhaveconcludedthatfoodsfromGMcropsareassafeasconvenAonalfoods.

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GMcrops:Agriculturalbenefits(side2)GMcropscan:•  reducemanagementcosts•  reducetheneedforAlling,whichcan

degradesoilquality•  allowcropstobegrowninpoorcondiAons

(e.g.lowwater,highsalinity)

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GrowingGMcropsnearorganicfarmsAnorganicfarmerinWesternAustralialosthisorganiccerAficaAonwhenGMmaterialwasfoundonhisproperty.In2014,hesuedhisneighbour,aGMfarmer.LawyersfortheorganicfarmersaidthattheGMseedsshouldhavebeencontainedbeHer,whiletheGMfarmermaintainedthattheorganiccerAficaAonprocesswasunreasonable.

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Socialandethicalissues


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GrowingGMcropsnearorganicfarms(side2)TheWASupremeCourtruledthattheGMfarmercouldnotbeheldresponsibleforgrowingalegalGMcropinaconvenAonalway.

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AnG-GM Pro-GM

•  Somebelieveitisn’trighttointerferewithnaturebychanginganorganism’sgenes.

•  GlobalfoodshortagesarecausedmorebyeconomicsandpoliAcs,thanbyfarmproducAon.

•  LargecompaniescoulddominateglobalagriculturethroughGM.

•  TradiAonalbreedinghasbeenselecAngfordesiredgenesforthousandsofyears.

•  Genesaretransferredbetweendifferentspeciesinthenaturalenvironment.

•  GMcropsbenefitbothsmallandlarge-scalefarmers.

Socialandethicalissues(side2)

AnG-GM Pro-GM

•  GMfood(e.g.withpigDNA)couldcreateproblemsforsomereligiousgroups(thereisnoconsensuswithinthemajorreligionsregardingGM).

•  GMfoodcanhelptoalleviatehunger,improvenutriAonandbenefitmankind.

•  PeoplearegiventherighttochoosewhethertobuyGMproductsinAustraliathroughlabelling.

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CanolaCanolaisamemberoftheBrassicaceaefamily,whichalsoincludescabbages,broccoliandcauliflower.Itisgrownforitsseeds,whicharerichinoil.Canolaoilisusedinfoodproductslikemargarineandcookingoil.TheseedmaHer,leWaWerextracAngtheoil,isusedinstockfeed.

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Globalfooddemand

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Globalfooddemand(side2)

IncreasedproducAontomeetglobalfooddemand,shouldcomefromincreasingyields,notfromincreasingtheareaofagriculturalland.Clearinglandforfarminghasenvironmentaleffects,includinggreenhousegasemissionsandlossofbiodiversity.

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Canola(side2)

CanolawasfirstgrowninAustraliain1969,withproducAonrapidlyexpandinginrecentyearstobecomeoneofourmostimportantcrops,worth$2.3billionin2012-13.

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StorycardAngiewillneverbeabletowalk.ShewasbornwithSpinalMuscularAtrophy(SMA),ageneAccondiAonthatresultsinmusclewasAng.Angiereliesonhermumanddadtodoeverydaythingslikegelnginandoutofbed,goingtothebathroomandgelngdressed.Shehasproblemsbreathingatnight,anddoctorshavetoldherparents,GabbyandPhil,thatshemightnotlivebeyondherteenageyears.GabbyandPhilwanttohaveanotherchild,butareworriedbecausetheyhaveaoneinfourriskofhavinganotherchildwithSMA.Gabby’sdoctorhassuggestedthattheyconsideramedicaltechniquecalledPGD,whichcouldhelpthemhaveachildwithoutthecondiAon.PGDinvolvestesAngembryosforgeneAcdisordersbeforetheyareimplantedinthemother’suterus.GabbyandPhilwouldlovetomakesuretheirnextchilddoesn’thavetosufferlikeAngiehas,butGabbyisworriedthatusingPGDmightmakeAngiefeelunwanted.Phil’ssister,Beth,thinksitwouldbewrongtochoosethefeaturesoftheirbaby,shebelievesGabbyandPhilshouldleavethingstonature.

ShouldGabbyandPhilusePGDtohaveababywithoutspinalmuscularatrophy?


WhoshouldberesponsibleforallowinggeneActesAngofembryos?Theparents,

doctorsortheGovernment?

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IsitfairthatPGDisonlyaccessibletopeoplelikePhilandGabbywhocanafford

it?

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HowwouldembryoselecAontoavoidageneAcdisordermakepeoplelikeAngie,whoarelivingwiththedisorder,feel?

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CouldPGDeventuallyleadtoacceptanceof‘designerbabies’thatareselectedfor

featureslikephysicalappearance?

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IsitwrongforPhilandGabbytochoose

thefeaturesoftheirbaby?ShouldPhilandGabbyhavetherighttopreventdevelopmentofababythatwill

sufferwiththedisorder?

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IsIVFwithPGDworththerisktothe

embryo?


WhatisPGD?

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EthicalissueswithembryoselecGon•  Onlyavailabletothosewhocanpayforit.•  Somepeoplethinkitiswrongtochoosethe

featuresofababy.•  ByselecAngagainstadisorder,itcould

creatediscriminaAonissuesforpeoplelivingwiththatdisorder.

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EthicsofembryoselecGon(side2)•  Couldleadtoacceptanceof‘designer

babies’thatarechosenfornon-healthcharacterisAcse.g.intelligence,athleAcability,height,haircolour.

•  SomepeoplethinkitiswrongtodiscardunwantedembryosfromPGD.

•  whatcountsasaseriousgeneAccondiAonisunclear.

WhatisPGD?(side2)

PGDstandsforpreimplantaAongeneAcdiagnosis.ThistechnologyallowsparentstoselectforparAcularcharacterisAcsintheirchildren,usuallytoavoidcertaingeneAcdisorders.InPGD,embryosareproducedoutsidethemother’sbody(throughIVF).Theyarethentestedforthedisorderandonly‘healthy’embryosareimplantedinthemother’suterus.

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WhatisIVF?IVFstandsfor‘invitroferAlisaAon’.ItisatechniquethatisusedtohelpcoupleswithferAlityissuestohavechildren.InIVF,eggsandspermarecombinedoutsidethewoman’sbody(invitro–inaglassdish)tocreateanembryo.

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UsesofPGDPGDcanbeusedtohelpparentswithafamilyhistoryofageneAcdisordertohavechildrenwithoutthedisorder:•  byselecAngembryosofonesex,whenthe

disorderonlyaffectsmalesorfemales.•  bytesAngembryosforgenesthatcausea

seriousgeneAcdisease(e.g.cysAcfibrosisorspinalmuscularatrophy).

•  bytesAngforgenesthatcanincreasetheriskofgelngadiseaseordisorder(e.g.breastcancer).

Insomecountries,couplescanchoosethesexoftheirbabyfornon-medicalreasons.

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UsesofPGD(side2)

PGDhasalsobeenusedbysomecouplestocreateachildthatcanbeabloodorAssuedonorforasicksibling.AlternaAvediagnosismethods(likeultrasound),testfordisordersduringpregnancy.Ifthetestshowsthedisorder,parentsmaybefacedwiththedifficultdecisionofwhetherornottoterminatethepregnancy.PGDavoidsthisdilemmabytesAngforadisorderbeforepregnancy.

WhatisIVF?(side2)Embryosaregrowninthelaboratoryovertwotofivedays,beforebeingtransferredintothewoman’suterus.

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SuccessratesLikeIVF,thesuccessofPGDcan’tbeguaranteed.Problemscanoccurateachstepintheprocess.ThegraphbelowshowsthesuccessrateinAustralia(in2011)fromatotalof1182casesofPGD.

CostsofPGDTherearelargeout-of-pocketcostsforIVFwithPGDinAustralia:•  IVFpercycle $3000-$4000

(aWerMedicarerebate)•  PGD upto$4000

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CostsofPGD(side2)CostsvarydependingontheclinicandthegeneActest.PGDiscurrentlyonlyavailableinprivateclinics,withnoMedicarerebate.Manycouplesgothroughseveralcyclesbeforetheyhaveasuccessfulpregnancy,mulAplyingthetotalcost.

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Source:UNSW2013


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RegulaGngPGDinAustralia.•  PGDisnotregulatedbyfederallaw.•  Tobeaccredited,clinicsmustfollow

guidelinessetoutbytheNaAonalHealthandMedicalResearchCouncil.

•  SexselecAonisonlyallowedifitwillreducetheriskofaseriousgeneAccondiAon.

.

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Spinalmuscularatrophy(SMA)SMAisageneAccondiAonaffecAngthenervesthatcontrolmovementofmuscles.Thiscausesmuscleweaknessandcanleadtoproblemswithbreathing,swallowingandwalking.SMAisclassifiedintotypes,dependingonitsseverity.BabieswithSMAtype1usuallydiebytheageoftwo.Peoplewithtype2usuallycan’twalkorstandwithoutassistance,andhaveareducedlifeexpectancy.AlthoughpeoplewithSMAtype3and4areaffectedphysically,theyhaveanormallifeexpectancy.

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Spinalmuscularatrophy(side2)

SMAiscausedbyarecessivegene,sopeoplewiththecondiAonhaveinheritedtwocopiesofthefaultygene(onefromeachparent).Ifbothparentsarecarriers,theyhaveaoneinfourchanceofhavingachildwithSMA.

RegulaGngPGDinAustralia(side2)StateandterritorylegislaAonvaries.Insomestates,suchasVictoria,PGDisdirectlyaddressedbylegislaAon,whileothersrelyonthenaAonalguidelines.

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GenesMostoftheDNAincellsispackagedintochromosomes.GenesarearrangedalongthesechromosomesandcarrytheinstrucAonstomakemolecules,suchasproteins.TofuncAonproperly,eachcelldependsonthousandsofproteinsdoingtherightjob,intherightplace,attherightAme.

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ThealternaGvesForcoupleswhoareatriskofhavingababywithaseriousgeneAcallyinheritedcondiAon,theiropAonsareto:•  nothavechildren•  riskhavingababywiththecondiAon•  usediagnosActesAngtoavoidhavingababy

withthecondiAon

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ThealternaGves(side2)

DiagnosActesAngcanbedone:•  duringpregnancyusingultrasoundorby

geneActesAng.IfresultsareposiAve,thecouplemaythenfacethedifficultdecisionofwhethertoterminatethepregnancy.

•  beforepregnancyproceeds,bycreaAngembryosoutsidethebodyandusingPGDtoonlychoosethosewithoutthecondiAon.

Genes(side2)Anorganism’scompletesetofDNA,containingalltheinstrucAonsrequiredtomakeit,iscalleditsgenome.

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Amyisjust15.HerfamilyhasbeenrockedbytherecentnewsthatAmy’sAunAeLindahasbreastcancer.Amy’sfatherMarkisespeciallyworriedabouthissisterLinda.MarkandLindalosttheirmothertobreastcancershortlybeforeAmywasborn.AgeneActesthasrevealedthatAunAeLindahasamutaAonofherBRCA1gene,whichincreasesaperson’sriskofdevelopingbreastcancer.AmywantstoknowifshealsohastheBRCA1mutaAon,butthestandardprocedurewouldbetotestherfatherMarkfirsttoseeifhehastheBRCA1mutaAon.IfthisisconfirmedAmycouldthenhavethetest,asthereisevidencethatadirectrelaAvecarriesthemutaAon.MarkiswillingtobetestedbutAmy’smother,Julia,isagainstit.JuliathinksAmyistooyoungandisconcernedabouthowAmywouldreactifshefoundoutshewasatriskofhavingtheBRCA1mutaAon.MarkwillonlydothetestifJuliaandAmycancometosomeagreement.Amyleadsahealthylifestyle–eaAnghealthilyandexercisingregularly–butsheiswillingtodoanythingtoavoidgelngbreastcancer.(cardsadaptedfromGenomeGenera;on,GenomeResearchLtd)ShouldAmyinsistonherfatherMarkbeingtestedfortheBRCA1mutaGon?

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IsitbeHertofindoutasearlyaspossibleorisAmytooyoungtocopewiththistypeofinformaAon?

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IfMarktakesthetest,whoshouldhaveaccesstohisresults?

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IfAmydiscoversshemaybeatrisk,whatshouldshedonext?Forexample,shouldshehavethetestfortheBRCA1mutaAonherself?

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IfMarkdiscoversthathedoesnothavetheBRCA1mutaAon,howwillthatimpactAmyandtherestofthefamily?WhatdoesAmygainfromknowingthatinformaAon?

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ShouldthistestbefreelyavailabletoeveryonethroughMedicare?

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IfMarkdiscoversthathedoeshavetheBRCA1mutaAonwhatdoesthatmeanforhim?


ThegeneGcsofbreastcancerMutaAonsintheBRCA1andBRCA2genesarestronglylinkedtobreastcancerrisk.Theyarealsolinkedtoanincreasedriskofovariancancer.

OurgenesMostoftheDNAinhumancellsispackagedinto46chromosomes,in23pairs.OurgenesarearrangedalongthesechromosomesandcarrytheinstrucAonstomakemolecules,suchasproteins.

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Ourgenes(side2)

TofuncAonproperly,eachcelldependsonthousandsofproteinsdoingtherightjob,intherightplace,attherightAme.OurcompletesetofDNA,containingalltheinstrucAonsrequiredtomakeus,iscalledagenome.

ThegeneGcsofbreastcancer(side2)Fewerthan1in500womencarryahigh-riskmutaAonforbreastcancer.IfapersoncarriesamutatedcopyoftheBRCA1orBRCA2gene,itdoesnotmeantheywilldefinitelydevelopcancer.•  WomenwithaBRCA1mutaAonhavea

75-85%lifeAmeriskofdevelopingbreastcancer.

•  WomenwithaBRCA2mutaAonhavea50-80%lifeAmeriskofdevelopingbreastcancer.

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Howcommonisbreastcancer?1in8womenwillgetbreastcancerbytheAmetheyare85.Becausebreastcancerissocommon,havingmorethanonerelaAvewiththediseasedoesnotnecessarilymeanthatthefamilycarriesahighergeneAcrisk.

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GenemutaGonsAmutaAonisapermanentchangeintheDNAsequence.MutaAonscomeinanumberofdifferentformsandcanchangethefuncAoningofourgenes.

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GenemutaGons(side2)SomemutaAonsmayleadtoadifferenceintheamount,orstructure,ofaproteinproducedbyspecificgenes.SomemutaAonsmayswitchgenesonatthewrongAme,prevenAngaproteinfromdoingitsjob,orchangingthewayitdoesitsjob.

Howcommonisbreastcancer?(side2)Thehighestriskfactor(aWerbeingfemale)isage.77%ofbreastcancersoccurinwomenover50.

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Source:AIHW2014


BreastcancerstaGsGcs•  Breastcanceristhethirdmostcommonly

diagnosedcancerinAustralia,with14,680newcasesin2012.

.

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HealthcareadviceforbreastcancerAllwomen,regardlessoftheirfamilyhistoryorgeneAcrisk,areadvisedto:•  examinetheirownbreastsandreportany

changesimmediately•  eatahealthydietandkeepfit

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Healthcareadviceforbreastcancer(side2)•  maintainhealthyweight,especiallyaWer

menopause•  moderatealcoholconsumpAon.

BreastcancerstaGsGcs(side2)•  In2009,theriskofbeingdiagnosedwith

breastcancerby85yearsofagewas1in8forfemalesand1in724formales.

•  Therewere14,560femaleand120male

deathsfromthediseaseinAustraliain2012.

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Source:AIHW2013


TumoursuppressorgenesBRCA1andBRCA2areexamplesoftumoursuppressorgenes,whichplayanimportantroleinprevenAngcancer.Normally,ifDNAisdamaged,thesegeneshaltcelldivisionorpromotecelldeath.

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BreastcancerinmenBreastcancerisnotonlyathreattowomen.Mencangetbreastcancer,althoughitismuchrarer,accounAngforlessthan1%ofcasesinAustralia(127newcasesin2010).

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Breastcancerinmen(side2)Lowerawarenessofmalebreastcancermeansittendstobedetectedatalaterstageinmenthaninwomen,whichmeansthattheoutcomestendtobeworse.

Tumoursuppressorgenes(side2)Wehavetwocopiesofeverygene–oneinheritedfromeachparent.InheritanceofjustonecopyofaBRCA1orBRCA2mutaAonfromaparent,isenoughtoincreasetheriskofdevelopingbreastcancer.

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MonitoringwomenathighriskWomenwithafamilyhistoryofbreastcancerarecategorisedaseither‘raisedrisk’or‘highrisk’.Lessthan1%ofwomenareathighrisk.InAustralia,womenlessthan50yearsofageathighriskofbreastcancermayreceiveyearlyMRI(magneAcresonanceimaging)screeningunderMedicare.MRIusesamagneAcfieldandradiowavestoproducedetailedimagesofthebreastAssue.

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GeneGcscreeninginat-riskfamiliesIngeneAcscreening,alivingrelaAvewithbreastcancerhastobetestedfirst.IftheyhaveoneofthemutaAonsassociatedwiththecancer,otherfamilymemberscanbetestedforthesamemutaAon.

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Breastcancerscreeninginat-riskfamilies(side2)GeneActesAngofunder-16sfordiseasesthatoccurinadulthoodisnotnormallyadvised.InAmy’scase,itwouldbeclinicalpracAcetotestthefather(whohasarelaAvewiththegenemutaAon)first.

Monitoringwomenathighrisk(side2)SomehighriskwomenchoosetoremovealloftheirbreastAssueasaprevenAvemeasure,aprocedureknownasapre-empAvemastectomy.

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OurDNA

Ourbodiesaremadeupofaround50trillioncells.Mostofthesecellscontainaperson’sgeneAcinformaAonwithinalongmoleculecalledDNA(deoxyribonucleicacid).ThisDNAcontainsthegeneAcinformaAonthatweinheritfromourparents.

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Whatiscancer?

AllcancersaregeneAcdiseases.CancerdevelopsfromsinglebodycellsthatconAnuallydivideinanuncontrolledmanner.Cancercellsbehaveinthisabnormalwaybecauseofchanges(mutaAons)intheDNAsequenceofkeygenes,whichareknownascancergenes.

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Whatiscancer?(side2)

ThechangesintheDNAprovideagrowthadvantagetothecell.Thismeansthatthecancercellanditsoffspringdivideatafasterratethanthatoftheirneighbours.ThisresultsintumourformaAon,invasionofsurroundingAssueand,ifleWuntreated,eventually‘metastasis’wherethecancerspreadstootherpartsofthebody.

OurDNA(side2)DNAismadeupofspecificsequencesofleHersorbasesthatencodeinstrucAonsonhowtomakeproteins.ThefourbasesareAdenine(A),Guanine(G),Cytosine(C)andThymine(T).TheyarelinedupalongtwostrandsofDNAandtheDNAiscoiledintoadoublehelixstructurethatresemblesatwistedladder.

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WhatistheriskofinheriGngaBRCAmutaGon?ThemutatedBRCA1andBRCA2genesareinheritedinanautosomaldominantpaHern.Thismeansthatachildonlyneedstoinheritonecopyofthemutatedgenetohaveanincreasedriskofdevelopingcancer.

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WhatistheriskofinheriGngaBRCAmutaGon?(side2)

IfoneoftheparentsisacarrierofamutatedBRCA1orBRCA2gene,eachoftheirchildrenhasa1in2(50%)chanceofinheriAngthemutatedgenefromthecarrierparent.


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TopissuesWhatarethetopissuesthatyouhavediscussedinyourgroup?


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