Winter 2013 - med.wisc.edu · Genetics Counselor - Winter 2013 - 3. Alumni Scholarship for...

Dear Colleagues and Friends,The start of a new year has different meanings. For the GC Program it revolves around students-both current and prospective. Our current students are back from winter break. The first years are still focused on classwork and introductory clinical experiences and looking forward to full immersion in their second year clinicals. Second years are thinking about everything they need to complete (rotations, that little thing called a “research project”) and wondering where they will be come summer (hopefully employed in their dream job!). The admissions

committee is busy reading applications with the difficult task of choosing, from over 120 prospective students, 35 applicants to interview and then further decide the 5 to whom we will extend an offer. Daunting, all of it. This year the offer of admission coincides with the end of the semester; we will be welcoming new GC interns and wishing the Class of 2013 well. And then wow, the year is almost over! I better get moving; there’s a lot to do!Enjoy! - Casey

•Wewerere-accreditedbytheABGCforthemaximumtimeallowed!Reviewerscommentedonthestrengthofourcurriculum,didacticandclinical.Abigthankyoutofaculty,instructorsandclinicalsupervisors!!

• Ourstudentsperformedexcellentlyonthenationalcertificationexamin2012witha100%passrate!Theaveragescoreswerewellabovethenationalaverage.Congratulationstoall.

•WecontinuetocollaboratewithotherMidwesttrainingprograms.WehostedasummerstudentfromtheUniversityofMichiganforasecondyearclinicalrotation;weheldthe4thbiennialAdamRennebohmMemorialBereavementProgramattendedbyallWI,MNand

NWGCstudents;weheldajointlecturewithMNGCstudentsfortheCognitiveBehavioralTechniques:ImplicationsforGeneticCounselingusingdistanceeducationasourformat.

•Wewereagainabletoawardscholarshipstoallofourincomingstudentsduetothegenerosityofalumnidonorsandfriends.

•Wecontinuesuccessfulplacementofourgraduates;theclassof2012wereallgainfullyemployed(withbenefits!)byJuly1,2012.

• CongratulationtoDr.DavidWargowskiforhispromotiontofullprofessorandtoDr.GregRiceforreceivingtheDean’sTeachingAward.

Winter 2013Genetic Counselor Training Program SNPits

Highlights of 2012

Greetings from the Director

I N T H I S I S S U E

GreetingsfromDirector 1

Highlightsof2012 1

HailandFarewell 2Classof2014-WelcomeandBiosClassof2012-ResearchProjects

AlumniUpdatesand 6Publications

AnnualAlumniGathering 7

StayinTouch,MakeaGift 8

PediatricsUNIVERSITY OF WISCONSIN

SCHOOL OF MEDICINE AND PUBLIC HEALTH

DEPARTMENT OF

http://www.med.wisc.edu/gc

GeneticsCounselor-Winter2013-2

Hail and Farewell

Welcome to the Class of 2014

Erin Borchardt – Recipient of the Joan Burns Founder’s ScholarshipIamfromBrookfield,WIandhavehadthepleasureoflivinginMadisonforthepastsevenyears.IgraduatedwithaGeneticsdegreefromUW-MadisoninMay2009,andhavesincebeenworkingatabiotechnologycompanythatprovidesgenetictestingofstemcelllines.BioethicscoursesatUWandatalkbyageneticcounseloratanundergraduatemeetingexposedmetogeneticcounselingandsparkedmyinterest.Ididsomeexplorationofthefieldfollowinggraduationandfoundthatitwasagreatfitforme.Volunteeringwithpre-teensatacrisisinterventioncenteralsocontributedmydesiretobecomeageneticcounselor.IamhonoredtoreceivetheJoanBurnsFounder’sScholarship,whichrepresentsthefoundationofthegeneticcounselingprogramatUW.Theprogramaimstoequipgeneticcounselorswithauniquesetofskillsnecessarytomeettheneedsofpatientsandtheirfamilies,includingtranslatingcomplexscientificinformationandaddressingthefamilialimplicationssurroundinggeneticdiagnoses.IbelieveIwasawardedthisscholarshipbecauseofmyemphasisonhelpingothersby

empoweringthemwithknowledgeandresources.VolunteerexperienceswithpeopleofmanydifferentabilitiesandbioethicscoursestaughtbyexpertsatUWshapedmydrivetopromoteinformeddecision-makingandadvocateforgeneticcounselingaspartofmainstreammedicine.IamthrilledtobeginthenextchapterofmylifeintheUWGeneticCounselinggraduateprogram,andexcitedtomeetmyclassmates! Rosy Ebel – Recipient of the Dr. Raymond Kessel Scholarship in OutreachIgrewupinHouston,TXandrelocatedtoCleveland,OHtoattendCaseWesternReserveUniversity.IgraduatedthispastMaywithaBAinBiologyandaminorinPsychology.IlearnedaboutgeneticcounselinginaBehavioralGeneticscoursemysophomoreyearincollegeandwasexcitedabouttheprospectofacareerthatinvolvesscientificandpsychosocialaspectsofgenetics.Inordertoprepareforentryintothefield,Ispenttimeshadowinggeneticcounselors,aswellasvolunteeringinHIVinterventionattheFreeHealthClinicofCleveland.IfeelhonoredtobereceivingtheDr.RaymondKesselScholarshipinOutreach.Dr.Kesselhasbeenresponsibleforestablishingneededgeneticsservices,suchasclinicsandscreeningprograms,throughoutWisconsinandhasshowndedicationtoprovidingresourcesforgeneticseducationtomembersofallcommunities.Havingspenttimeworkingwithindividualswithlimitedhealthcareoptions,IhopetocombinemyexperiencesandtrainingasageneticcounselorintoapassionthatmirrorsDr.Kessel’sworkinordertocontinuehismissionofempoweringallmembersofthecommunitywithimportantgeneticresources.

Katie Gallagher – Recipient of the Dr. Renata Laxova Scholarship in Patient AdvocacyIamoriginallyfromAppleton,WIandmovedtoMinneapolis,MNtoattendtheUniversityofSt.ThomaswhereIgraduatedin2011withamajorinExerciseScienceandadoubleminorinPsychologyandBiology.IknewthatgeneticcounselingwasperfectformeonceIstartedobservationsintheclinicandspendingasummerinterningwithageneticcounselorintheoncologyfield.Ihavereallyenjoyedvolunteeringthroughcollegeandworkingonacrisishotlineaftergraduationaspreparationforgraduateschool.IwasthankfultohavebeenawardedTheDr.RenataLaxovaScholarshipinPatientAdvocacy.IbelievethisisbecauseIampeopleandpatient-oriented.IenjoythesciencethatthefieldofGeneticCounselinggivesme,butthegreatestrewardformeisbuildingarelationshipwiththepatientsandhelpingthemthroughpotentiallydifficulttimes.IamlookingforwardtomovingbacktothewonderfulstateofWisconsinandbecomingaBadgerintheGeneticCounselingprogram. Meghan Kraus – Recipient of the Genetic Counselor Training Program Alumni Scholarship for LeadershipIgrewupinSt.Louis,MOandgraduatedfromMizzouinDecember2011withamajorinBiologyandminorsinSpanishandPsychology.IfirstbecameinterestedingeneticcounselingafterIshadowedacounselormyjunioryearofcollegeandhavebeenworkingwithhereversinceonvariousclinicaltrialsforpatientswithmetabolicdisorders.DuringmyundergraduatecareerIalsoenjoyedvolunteeringattheMid-MissouriCrisisHotline,TrueNorthDomesticAbuseShelterandSpecialOlympics.Iamverygratefultohavereceivedthe

GeneticsCounselor-Winter2013-3

AlumniScholarshipforLeadershiptohelpmeinbecomingageneticcounselor.ThemostimportantpersoninmyjourneytobecomingaGCwasmyundergraduateGCmentorandIlookforwardtothedayIcan“payitforward”andserveasamentortoeducateandassistothersinterestedinthisfield.IamexcitedtojointheaccomplishedgroupofUW-MadisongeneticcounselingalumniintwoyearsandtohelpothersachievethisgoallikeIwashelped.I’veheardnothingbutgreatthingsaboutMadisonandI’mthrilledtobemovingthereandjoiningtheUWgeneticcounselingprogramthisfall! Tara Maga – Recipient of the Dr. Richard Pauli Scholarship in Clinical ResearchOriginallyfromMichigan,IattendedTheGeorgeWashingtonUniversityinWashington,D.C.graduatingwithaB.S.inBiologyin2005.AtGWIvolunteeredforaprogramcalledAsthmaSwimwhereItaughtchildren’sswimminglessonsandpreventativecare.AsanundergraduateIhadtheopportunitytoworkinageneticslab.Thisexperience,alongwithworkingasanIRTAfellowattheNationalCancerInstitute(NIH),ledtomypassionforgeneticresearch.ThispastyearIcompletedmyPhDinGeneticsattheUniversityofIowa.Mythesisinvolvedthedevelopmentofatargetedsequencecaptureplatformpairedwithnextgenerationsequencingtoidentifynovelgenesinvolvedinatypicalhemolyticuremicsyndrome.Whileworkingwithgeneticcounselorsduringmytraining,IfoundtheprofessiontobetheperfectcombinationofwhatIlovemostaboutgeneticsandtheopportunitytohelppatientsinamoredirectway.IamverythankfultohavebeenawardedtheDr.RichardM.PauliScholarshipinClinicalResearch.Iagreethatthereisaneedforcollaborationandunderstandingbetweengeneticcounselors,scientists,

medicaldoctors,andotherhealthcareprofessionals.MyexperiencesduringmyPhDhaveshownmethatthisisespeciallytruenowwiththenewtechnologiesthatarejustbeginningtobeusedintheclinic.ThisiswhyIamexcitedtobeastudentonceagainandstarttheGCprogramthisfall!

Farewell to the Class of 2012

TheClassof2012,likeothersbeforeandafter,wasagreatclassandmuchmissed.ListedbelowisastatementfromeachstudentaboutwhattheyappreciatedabouttheirtraininghereatUW-MadisonaswellastheirResearchProjectAbstracts.Inkeepingwithourmissionoftrainingstudentstothinkcriticallyandparticipateinresearch,allstudentsenrollinfourresearchcreditsduringthesecondyearoftheprogram.Theyworkunderthedirectionofaresearchprofessortowardthegoalofproducingapublishableresearchorotherprojectthatcontributestothebodyofknowledgeofthediscipline.

Hannah Baker: DuringhertimeatUW,Hannahenjoyedtheopportunitytoworkcloselywithsupportivesupervisors,talentedphysicians,andadevotedProgramDirector.ShewasespeciallyappreciativeoftheuniqueopportunitiesthatUW-MadisonoffersincludingtheMCH-Lendprogram,MayoClinicInternship,diverseclinicalrotations,andcomprehensivecoursework.HerresearchexperiencegainedasaprojectassistantintheSchoolofNursinghasbeenpriceless.Asanout-of-statestudent,Hannahwouldliketotakethisopportunitytoexpressherdeepgratitudeforthe

scholarshipshereceived,andthankdonorsfortheirhelpfulcontributioninallowinghertoreachherprofessionalgoals.HannahBakercurrentlyworksasaPediatricGeneticCounselorattheUniversityofIowa,inherhomelandoftheHawkeyeStatetowork.

Development and Validation of Cystic Fibrosis Genetic Knowledge Questionnaire (CFGKQ) Presenter: Hannah Baker Project Advisor: Audrey Tluczek, PhD, RNBackground:Currently,therearenoempiricallyvalidatedinstrumentstoevaluatecysticfibrosis(CF)geneticknowledgeinindividualsofchild-bearingagewithinthegeneralpopulation.Standardized,valid,andreliableinstrumentsareessentialtoevaluatetheeffectivenessofclinicalpracticesandtodevelopnewevidence-basedgeneticeducationalinterventionsforparentsofinfantswithabnormalnewbornscreening(NBS)resultsforcysticfibrosis(CF).ThisstudywasdesignedtodevelopandestablishthevalidityandreliabilityofaCFgeneticknowledgequestionnaire.

Methods:The16-itemCysticFibrosisGeneticKnowledgeQuestionnaire(CFGKQ)wascompletedby84membersofthegeneralpopulation(GPgroup)and441membersoftheNationalSocietyofGeneticCounselors(NSGCgroup)intheUnitedStates.Participantsalsoratedtheimportanceofgeneticcontent.

Results:SignificantdifferenceswerefoundincorrectresponsesprovidedbyparticipantsintheGPgroupascomparedwithparticipantsinNSGCgroup.Resultsshowedconsistencybetweentheinitialandtwoweekfollow-upadministrationsofthequestionnairefortheGPgroupand

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NSGCgroups.Twoitems(#10and#16)lackingempiricalsupportwereremovedfromthequestionnaire.Thus,thefinalquestionnaireconsistedof14items:fivemultiplechoiceandninetrue-false.MembersofthegeneralpopulationplacedgreaterimportanceonrecurrencerisksandimplicationsofaCFdiagnosisforfamilymembersascomparedtothegeneticcounselorswhotendedtoviewgeneticmechanismsofCFashighlyimportant.

Conclusions:Thesefindingssuggestthatthe14-itemversionoftheCFGKQisavalidandreliableinstrumentthatcanbeusedtoassessknowledgeofCFgeneticsinadultmembersoftheUnitedStatesgeneralpopulation.Thistoolmaybeparticularlyvaluableinthedevelopmentofevidence-basedpracticesinCFgeneticcounseling,particularlyinthecontextofNBS.

Lior Borovik: Lior’sdecisiontoapplytotheUW-Madisonprogramwasbasedonitsexcellentreputationanditsmorethan30yearsofexperience,butwhatsolidifiedhisdecisioninhisopinionwasthefriendlyandtight-knitcommunityhefound.HeappreciatedhistimetrainingaspartofaninterdisciplinaryteammemberandadvocatethroughtheMCHLENDprogramandtheConsumerHealthAdvocacyProgram;bothhavehelpedhimbetterunderstandthehealthcaresystemfromtheperspectiveofthepatient.Heisthankfulforthescholarshipsprovidedtohimasitallowedhimtoconcentrateonlearningandultimatelyhelpinghimhelphispatients.Hevaluessuchphilanthropyandhopestooneday“payitforward.”LiorcurrentlyworksasaCancergeneticcounseloratSanfordHealth,inSouthDakota.

Pelger-Huet Anomaly and a Mild Skeletal Phenotype Secondary to Mutation in LBR Presenter: Lior Borovik Project Advisors: Richard M. Pauli, MD, PhD & Peggy Modaff, MS, CGCTheLaminBreceptor(LBR)genehasbeendescribedasencodingabifunctionalprotein.Mutationsinthatgenecanaffectneutrophilsegmentation,andalsomayhaveaneffectonsterolreductaseactivity.Mutationsonthisgeneareresponsiblefortwodifferentrecognizedconditions,Pelger-Huetanomaly(PHA)andGreenbergskeletaldysplasia.PHAisanautosomalco-dominantlaminopathyresultinginbilobedneutrophilnucleiinheterozygotes,andunsegmented(ovoid)neutrophilnucleiinhomozygotes.SomeputativePHAhomozygoteshavebeenreportedtohaveminorskeletalmalformations.Greenbergskeletaldysplasiaisanautosomalrecessive,perinataldwarfingdisorderinwhichheterozygouscarriersareusuallywithoutclinicalmanifestations.Wereportagirlwhohasbilobedneutrophilnucleiandamildskeletaldysplasia.MutationanalysisshowedtwonovelmutationsintheLBRgene:c.653_655delinsTGATGAGAAA(p.Ile218MetfsX19)andc1757G>A(p.Arg586His).Sterolanalysisfoundtraceamountofcholesta-8,14-dien-3beta-ol,whichisnormallyundetectedinhealthyindividuals.ThiscaseandotherspreviouslyreportedsuggestthatmutationsinLBRcanresultinacontinuumofphenotypicmanifestations. Anne Heun: AnnechosetheUniversityofWisconsin-Madisonbecauseofitsexcellentreputation,thediverseopportunities,andthe

supportandknowledgeoffaculty,supervisors,andtheProgramDirector.SheisgratefulfortheguidanceandsupportshereceivedduringhertimeintheProgramandenjoyedtheuniqueopportunitiesthatsetUW-Madisonapart,suchasaninternshipattheMayoClinic,TeachingAssistantships,andagraduatecertificateinConsumerHealthAdvocacy.SheisappreciativeofthescholarshipshereceivedthroughtheGeneticCounselorTrainingProgramScholarshipFundasitallowedhertofocusonbecomingthebestcounselorshecanbewithouthavingtoworryaboutfinancialconcerns.AnnecurrentlyworksattheIowaHealthsysteminDesMoines,atBlankChildren’sHospitalandJohnStoddardCancerCenter.

Psychosocial Functioning of Adolescents and Young Adults with Cystic Fibrosis Diagnosed through Newborn Screening or Other Methods

Presenter: Anne Heun Project Advisor: Audrey Tluczek, PhD, RN Objective:Examinefactorscontributingtopsychosocialfunctioninadolescentsdiagnosedwithcysticfibrosis(CF)throughnewbornscreening(NBS)versusstandardpractice.

Methods:Thiscross-sectionalpathwayanalysisexaminedfactorsassociatedwithpsychosocialfunctionofthreegroupsofadolescentsages16to22years:thosediagnosedwithCFthroughNBS(n=13),thosediagnosedwithCFthroughstandardpracticemethodsatthattime(n=26),andhealthypeersasareference(n=42).Datawerecollectedbetween2006-2011from62mothersand8fathersof

Quinn Stein (2000), Lior Borovik (2012) and Jay Flanagan (2005).

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81adolescents.Parentandadolescentself-reportassessmentsincluded:parentdepressionmeasuredbyCenterforEpidemiologicalStudies–Depression,parent-childattachmentandcommunicationmeasuredbyParentingRelationshipQuestionnaire,andadolescentpsychosocialfunctionmeasuredbyBehavioralAssessmentSystemforChildren–EditionIIusingsubscalesPersonalAdjustment,InternalizingProblems,EmotionalSymptomsIndex,Inattention/Hyperactivity,andSchoolProblems.

Results:SignificantresultsincludedmoredepressioninparentsofadolescentsdiagnosedthroughNBS(p=.006-.008);parent-childattachmentwasrelatedtocommunication(p=.000).Attachmentandcommunicationwereassociatedwithadolescentinternalizingproblems(p=.037,p=.009),emotionalsymptoms(p=0.018,p=0.022),andpersonaladjustment(communicationonly,p=0.009).Parentdepressionwasrelatedtoadolescentpersonaladjustment(p=0.022).

Conclusions:Regardlessofdiagnosticgroup,adolescentwithCFreportpsychosocialfunctionverysimilartopeerswithoutchronicconditions.ParentsofchildrendiagnosedwithCFthroughNBSmaybeatriskfordepressivesymptomswhentheirchildrenreachadolescenceandarelikelytoexperienceworseningsymptoms.Parentdepressioncanadverselyaffectchildren’spersonaladjustment.DepressionscreeningforparentsofadolescentswithCFandparent-childrelationshipassessmentiswarranted.Jenni Mancuso: JenniisproudtohavecompletedhergraduatestudiesattheUniversityofWisconsin-Madisonandisespeciallyappreciativeofscholarshipsshereceivedtohelpfundhereducation.Inadditiontoworkingwithwonderfulgeneticcounselorsandphysicians,sheenjoyedtakingpartinuniqueexperiencesthetrainingprogram

offers,suchasthesummerinternshipattheMayoClinicinRochester,MN,theNSGCannualeducationconference,andopportunitytoworkasateachingassistantandco-instructorforcoursesinzoologyandgenetics.ShecurrentlyworksasaGeneticCounselorattheMayoClinicinMinnesota.

Trends, Guideline Usage, and Decision Making in Genetic Testings

Presenter: Jennifer Mancuso Project Advisor: Jennifer Laffin, PhD, FACMG Purpose:Toexaminetrendsingenetictesting,utilizationofpracticeguidelinesandthedecisionmakingprocessincliniciansorderinggenetictestsforpatientcare.

Methods:PhysiciansandgeneticcounselorsfromtheUniversityofWisconsinwereaskedtocompleteasurveyforeachpatienttheyorderedorrecommendedgenetictestingforovera3monthtimeperiod.Thesurveyassessedwhattypeofgenetictestingwasordered,othertestingthatwasconsidered,theuseofpublishedguidelines,andfactorsimpactingtheclinician’schoice.

Results:Atotalof117surveysfrom5departmentswerecollected,representing220genetictests.Themostcommonlyorderedtestcategoriesincludedgenesequencing(51%oftests),andcopynumberanalysis(27%oftests).78surveys(67%)indicatedthatpublishedtestingguidelineswereusedtoaidindecisionmaking,27(23%)indicatednoguidelineswereused,and12(10%)wereunspecified.Practiceguidelineswereavailablefor108ofthe117patientvisitssurveyed(92%).Themostcommonfactorsimpactingtheclinician’schoicewerethatalllikelytestswereorderedatonce

(cited56times)andtheuseofatieredapproach(cited27times).

Conclusions:Comprehensivegenetictestingmethods,suchasgenesequencing,arebeingusedmorefrequentlyinclinicalpracticethanmutation-specifictechniques.Practiceguidelinesareavailableforthevastmajorityofpatientsseeninageneticsclinic,althoughtheyarenotalwaysutilizedtoaidindecisionmaking.Withthegoalofincreasingconsistencyinpatientcare,thereshouldbeafocusonthedevelopmentorexpansionoftools,likeGeneTests,tohelpcliniciansaccesspracticeguidelinesmoreefficiently.

Max Wilson: MaxwashonoredtohavecontinuedhisgraduateendeavorsattheUniversityofWisconsin.Hewasdrawntothe“handson”curriculumthatallowedhimtogainclinicalexperiencewhilesimultaneouslybuildingcompetencythroughhiscoursework.Heappreciatedthechallengingclinicalrotations,thesupportofacompassionateProgramDirectorandfaculty,theopportunitytodelveintoahistoricalresearchprojectwithWaltonO.SchalickIII,MD,PhD,aswellasparticipateinseveralteachingassistantshipsthatfurtheredhisprofessionaldevelopment.MaxwasfortunatetobearecipientofgraduatescholarshipsfromtheUniversityofWisconsinAthleticDepartment,UniversityofWisconsinGeneticCounselorTrainingProgram,aswellastheUniversityCenterforExcellenceinDevelopmentalDisabilitiesGraduateStudentAward,allofwhichhavedeepenedhisappreciationforphilanthropicwork;helooksforwardtocontributingtotheeducationoffuture

GC interns present their research at the Waisman Center Poster Fair. Sarah Hamilton, Sheryl Walker, Kim Dessoffy, and Ashley Klein.

geneticcounselingstudentsashehasbeensupported.HecurrentlyworksasaPrenatalGeneticCounseloratSt.Mary’sHospitalandasaBiochemicalGeneticCounseloratUW-Madison.

Risk as a Concept for U.S. Clinicians and Patients, 1970-2010

Presenter: Max Wilson Project Advisor: Walton O. Schalick III, MD, PhD Initscoreelements,geneticcounselingisabouttranslatingthemeaningofriskfromtheclinicalandscientificrealmsintothelayrealmforthepatient.Thepurposeofthisstudywastocontributetothebodyofknowledgeofriskcommunicationtoempowergeneticcounselorstobemoreeffectivepatientadvocates.Thestudyinvolvedaqualitativeanalysisthatconsistedofinvestigationofpublicationsinmedical,bioscientificandgeneticcounselingliteraturesaswellasinlaypublicationsasprimarysourcesofferingdataintotheunderstandingofriskfromapproximately1970-2010.Achronologywascreatedbydecadetoorganizetherisk-relatedprimaryliteratureinordertogenerateaninterpretiveframeworkforhowriskevolvedasaconceptinbothprofessionalandlaytraditions,andwassubsequentlyanalyzedagainstabackdropofsecondaryliteratureregardingriskcommunication.

Historically,inthelaypress,geneticriskinitiallycarriedpredominantly(andexaggerated)eugenicconsequences.Distrustofgeneticsmirroredatendencytooversimplifyriskaseitheruniformlycorrectorincorrect.Riskintheprofessionalliteraturewasoriginallyviewedasanallofnonetypeofphenomenon,butlater,wascompartmentalizedintodiscretecategoriesofmagnitude(highvs.lowrisk),origin(somaticvs.genetic),orwhoisaffectedbyrisk(proband,parents,society,humanity).Morerecently,professionalanalysisredefinesriskasafantasticallycomplicatedconstructthatismoreareflectionofsocioculturalboundariesthanofempiricdata.Asclinicians,awarenessofthecomplexityandsocietalconstraintsof“risk”iscrucialtotheefficacyofitscommunicationtoalayaudience,asthepatientandtheirfamiliesareultimatelyresponsiblefordecisionsregardingtheirmedicalmanagementandreproductiveplanning.

ALUMNI UPDATES

WelovetohearupdatesfromUW-Madisonalumni.Pleaseconsidersharinganyprofessionalupdates(e.g.newjobs,honors,memberships,publications,etc.),anypersonalupdates(weddings,births,etc.)aswellasanycurrentphotosofalumnibyemailingLauraBirkelandatlebirkeland@pediatrics.wisc.edu.

• ThankstoQuinn Stein (2000)forhisroleasCo-Chairofthe2012AECinBostonandbestwishestoMcKinsey Goodenberger (2008)assheembarksonthispathfornextyear’sconference!

• Greatworktothefollowingspeakersatthe2012AECinBoston,MA:

◆Cecelia Bellcross, PhD (1990) EmoryUniversity,“Epigenetics:WhyDNASequenceisn’tEverything”

◆Jason Flanagan (2005)StanfordHealth,“Pan-ethnicExpandedCarrierScreening”

◆Catherine (Casey) Reiser (1980) UW-Madison,“TheClinicalDoctorate”

◆Regan Veith (2005) and Amy White (2002), Children’sHospitalofWisconsin,“TheNewLandscapeofGeneticTesting:howtoapproachtestingminorsforadult-onsetconditionsintheeraoflarge-scalegenomictesting”

• Followingtheirpredecessors,themostrecentgroupofUWalumnitopasstheBoardexamincludes:Anne Heun MS CGC (2012), Jenni Mancuso MS CGC (2012), Natalie Salm MS CGC (2011), Emily Lauer MS CGC (2011), Rachel Smith MS CGC (2011), Jen Hessemann MS CGC (2011), Jennifer Siettmann MS CGC (2011).

•Susan (Zucker) Berg (1983)joinedtheCenterforSharedDecisionMakingatDartmouth-HitchcockMedicalCenterin2006wheresheisthecurrentInterimProgramDirector.Sheutilizeshergeneticcounselingskillswhileworkingwithpatientsfacingdifficultmedicaldecisionsandhelpingcliniciansincorporatetoolsandprocessesintotheirpracticestoincreasepatients’involvementinmedicaldecisionmaking,aswellasparticipatinginrelatedresearchandpresentingthisresearchbothnationallyandinternationally.Shecontinuestoworkwithgeneticcounselingcolleaguesinactivitiessuchascreatingapatientdecisionaidaboutprenatalscreening.

•Peggy Modaff (1995)continuestobeawonderfulandvaluedgeneticcounselor.

•Beth Wood Denne (2000)hasleftherroleasaprenatalgeneticcounseloratJohnsHopkinsandtakenapositionwithCounsyl.Alsoofnote,congratulationsareinorderasshewaselectedtobeontheABGCBoardofDirectors

GeneticsCounselor-Winter2013-6

Mary “Punky” Rasmussen keeps dietician Nikki Drillas and Geneticist Dr. Jess Scott-Schwoerer busy.

GeneticsCounselor-Winter2013-7

fora5-yeartermstartingJanuary2013,andsheandherhusbandareexpectingababygirlinMarchofthisyear.

• CongratulationstoKristin Rasmussen (2004)forherpromotiontoLeadGeneticCounseloroftheMarshfieldClinicMedicalGeneticsDepartment.Alsoofsignificance,sheandherfamilyhavetakenintwofaintinggoats,apparentlyasshestated,“geneticinterestingintheirownright.”

•Megan Nelson (2010)hastakenanewpositionworkingintheCancerCenteratAppletonMedicalCenterinAppleton,WI.

•Sara (Knavel) Fisher (2004)welcomedhersecondson,CalebJamesonAugust16,2012.

•Laura Birkeland (2007)welcomedherfirstson,Oneal,onJuly2,2012.

• CongratulationstoMaureen Flynn (2002).SheandErikmarriedinSeptember2011andhoneymoonedinJanuary2012toCambodiaandThailand.

•Emily (Windsor) Decker (2008)hasacquiredahusband,Mathew,thisthispastyearandhasjoinedtheranksofMrs.notMiss.

• Jay Flanagan (2005)wasawardedtheClinicalEmployeeoftheYearforSanfordHealth.Quiteanaccomplishmentgiventhatthisisa20,000employeeorganization.

• ThreeUWalumniQuinn Stein (2000),Lior Borovik(2012)andJay Flanagan (2005)arerepresentingUWwellatSanfordHealth,andallmale,too!

2012 Alumni Publications

WearecertainthatthislistisanunderrepresentationoftheworkthatUWalumniactuallycompleted,sopleasebecertaintosendpublicationupdatesourwaytobeincludedinthenextNewsletterbyemailingLauraBirkelandatlebirkeland@pediatrics.wisc.edu.

•Amy White (2002):MessingerY,MendelsohnN,RheadW,DimmockD,HershkovitzE,ChampionM,JonesS,OlsonR,WhiteA,WellsC,BaliD,CaseL,YoungS,RosenbergA,KishnaniP.SuccessfulimmunetoleranceinductiontoenzymereplacementtherapyinCRIM–negativeinfantilePompedisease.GeneticsinMedicine.2012.Jan;14(1).

•Emily Lauer (2011) andJen Hesemann (2011):HesemannJ.,LauerE.,ZiskaS.,NoonanK.,NemethB.,Scott-SchwoererJ.,McCartyC.,RasmussenK.,GoldbergJ.,SundS.,EickhoffJ.,RaggioC.,GiampietroP.Analysisofmaternalriskfactorsassociatedwithcongenitalvetbralmalformations.Spine.2013publicationinprocess.

Annual Alumni Gathering at the 2012 NSGC Annual Education Meeting

ThankstoMaureenFlynn,hostessextraordinaire,forhelpingtoorganizethealumnigatheringatAECthispastyear.Itwasgreattotakeabreakfromthetalksandgetachancetocatchup.FindoutwhereournextAECUW-MadisonAlumniGatheringwillbelocatedonourFacebookpage(UWGeneticCounselorTrainingProgramAlumni)ortheold-fashionedwayoflookingforflyersontheMessageBoardatAEC.

Jennifer Siettmann (2011), Liga Bivina (2010), Ellen Dwyer (2010), Megan Nelson (2010), Rachel Smith (2011)

Alex (Meyer) Yonker (2006), Karin Panzer (2007), Sara (Svendsen) Lewis (2006), Jason Flanagan (2005), Beth Wood Denne (2000), Quinn Stein (2000)

Alex (Meyer) Yonker (2006), Sara (Svendsen) Lewis (2006), Sheryl Walker (2013)

Megan Nelson (2010), Liga Bivina (2010), Casey Reiser (1980)

Margo Grady (1993), Kim (Greer) Reiser (2004), Lindsay Zetzsche (2004)

Erin Vanden Heuvel (2002), Alison Warner (1985), Jacquelyn Riley (2001), Maureen Flynn (2002)

Stay in touch and Happy New Year!Wewouldlovetohearfromyou.Pleasestayintouchvia:Facebook:UWGeneticCounselorTrainingProgramAlumni

Website:www.med.wisc.edu/gc

Email: reiser@pediatrics.wisc.eduor lebirkeland@pediatrics.wisc.edu

Mail:WaismanCenter,1500HighlandAve,Madison,WI53705

Phone:608-262-9722 UNIVERSITY OF WISCONSIN–MADISON

School of Medicineand Public Health

YourgifttotheGeneticCounselingMastersProgramAwardFundwillhelpusfulfillourmissionoftrainingcompetentandcompassionategeneticcounselorswhowillbelifelonglearnersandleadersinthefield.

Thisfundwascreatedtosupportthegeneticcounselingmaster’sprogram.ItwillprovidetuitionassistancethatwillallowstudentstochoosetheUniversityofWisconsin-Madisonfortheirgraduatetrainingingeneticcounseling.

Geneticcounselorshelpindividualsandfamiliessortthroughcriticalhealthissues.Inarapidlyexpandingfield,theyplayanincreasingroleinresearchandpublichealth.TheUniversityofWisconsin-MadisonGeneticCounselingMaster’sProgramiscommittedtopreparinggeneticcounselorswhowillhelpfamiliesandhelpshapethefutureofgenomicmedicine.

GiftstotheGeneticCounselingMastersProgramAwardFundareadministeredthroughtheUniversityofWisconsinFoundation,theofficialfundraisingandgift-receivingorganizationfortheUniversityofWisconsin-Madison.

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Please make checks payable to University of Wisconsin Foundation and mail to: University of Wisconsin Foundation, US Bank Lockbox, PO Box 78807, Milwaukee, WI 53278-0807. You will receive a receipt for your gift. To make a gift online, visit www.uwfoundation.wisc.edu