Journal article
Return of genetic research results in 21,532 individuals with autism
Genetics in medicine, v 26(10), 101202
29 Jun 2024
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Purpose: The aim of this study is to identify likely pathogenic (LP) and pathogenic (P) genetic results for autism that can be returned to participants in SPARK (SPARKforAutism.org): a large recontactable cohort of people with autism in the United States. We also describe the process to return these clinically confirmed genetic findings.
Methods: We present results from microarray genotyping and exome sequencing of 21,532 individuals with autism and 17,785 of their parents. We returned LP and P (American College of Medical Genetics criteria) copy-number variants, chromosomal aneuploidies, and variants in genes with strong evidence of association with autism and intellectual disability.
Results: We identified 1903 returnable LP/P variants in 1861 individuals with autism (8.6%). 89.5% of these variants were not known to participants. The diagnostic genetic result was returned to 589 participants (53% of those contacted). Features associated with a higher probability of having a returnable result include cognitive and medically complex features, being female, being White (versus non-White) and being diagnosed more than 20 years ago. We also find results among autistics across the spectrum, as well as in transmitting parents with neuropsychiatric features but no autism diagnosis.
Conclusion: SPARK offers an opportunity to assess returnable results among autistic people who have not been ascertained clinically. SPARK also provides practical experience returning genetic results for a behavioral condition at a large scale.
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Details
- Title
- Return of genetic research results in 21,532 individuals with autism
- Creators
- Jessica R. Wright - Boston Children's HospitalIrina Astrovskaya - Boston Children's HospitalSarah D. BarnsAlexandra Goler - Boston Children's HospitalXueya ZhouChang ShuLeeAnne Green SnyderBing HanAlexandria AarrestadLeonard AbbedutoGabriella AberbachShelley AberleAdediwura AdegbiteDebbie AdenijiMaria AguilarKaitlyn AhlersCharles AlbrightMichael AlessandriZach AlgazeJasem AlkaziRaquel AmadorDavid AmaralLogan AmonLeonor AmundsenAlicia AndrusClaudine AngloRobert AnnettAdam ArarJonathan ArnoldIvette ArriagaEduardo ArzateRaven AshleyLeilemah AslamyKelli BaalmanMelissa BaerEthan BahiJoshua BaileyZachary BaldlockGrabrielle BanksGabriele BaraghoshiNicole BardettMallory BarrettYan BartholomewHeidi BatesKatie BeardJuana BecerraMalia BeckwithPaige BeechanLandon BeesonJosh BeesonBrandi BellMonica BelliDawn BentleyNatalie BergerAnna BermanRaphael BernierElizabeth Berry-KravisMary BerwangerShelby BirdwellElizabeth BlankRebecca BondStephanie BookerAniela BordofskyErin BowerLukas BowersCatherine BradleyHeather BrayerStephanie BrewsterHallie BrownAlison BrownMelissa BrownCatherine BuckCate BuescherKayleigh BullonJoy BuraimaEric ButterAmalia CaamanoNicole CacciatoWenteng CaINorma CalderonKristen CallahanAlexies CambaClaudia Campo-SoriaGiuliana CapraraPaul CarboneLaura CarpenterSarah CarpenterMyriam CasseusLucas CastenSullivan CatherineAshley ChappoKimberly ChavezRandi Cheathem-JohnsonTia ChenSharmista ChintalapalliDaniel ChoY.B. ChoiNia ClarkRenee ClarkMarika CoffmanLaura ColemanKendra ColemanAlister CollinsCostanza ColumbiJoaquin ComitreStephanie ConstantArin ContraSarah ConyersLindsey CooperCameron CooperLeigh CoppolaAllison CorlettLady CorralesDahriana CorreaHannah CottrellMichelle CoughlinEric CourchesneDan CouryDeana CrocettiCarrie CrosonJudith CrowellJoseph CubellsSean CunninghamMary CurrinMichele CutriSophia D'AmbrosiGiancarla DavidAyana DavisSabrina DavisNickelle DeciusJennifer DelaporteLindsey DeMarcoBrandy DennisAlyssa DerondaEsha DhawanGabriel DichterRyan DoanKelli DominickLeonardo Dominquez OrtegaErin DoyleAndrea DraytonMegan DuBoisJohnny DudleyGabrielle DuhonGrabrielle DuncanAmie DuncanMegan DunlevyMeaghan DyerRachel EarlCatherine EdmonsonSara EldredNelita ElliottBrooke EmeryBarbara EnrightSarah ErbCraig EricksonAmy EslerLiza EstevezAnne FantaCarrie FasslerAli FatemiFaris FazalMarilyn FeatherstonJonathan FergusonAngela FishKate FitzgeraldKathleen FloresEric FombonneMargaret FosterTiffany FowlerEmma FoxEmily FoxSunday FrancisMargot FrayneSierra FromanLaura FullerVirginia GalbraithDakota GallimoreAriana GambrellVahid GazestaniMadeleine R. GeishekerJennifer GerdtsDaniel GeschwindMohammad GhaziuddinErin GivenMykayla GoetzJared GongKelsey GonringNatalia GonzalezAntonio GonzalezEllie GoodwillRachel GordonCarter GrahamCatherine GrayEllen GrimesAnthony GriswoldPan GuJanna GuilfoyleAmanda GulsrudJaclyn GundersonChris GunterSanya GuptaAbha GuptaAnibal GutierrezFrampton GwynetteGhina HaidarMelissa HaleMonica HaleyLauren K. HallKira HamerPiper HamiltonNathan HannaAntonio HardanChristina HarkinsEldric HarrellJill HarrisNina HarrisCaitlin HayesBraden HayseTeryn HeckersKathryn HeerwagenDaniela HennellyLynette HerbertLuke HermleBriana HernandezClara HerreraAmy HessMichelle HeymanLorrin HigginsBrittani Hilscher PhillipsKathy HirstTheodore HoEmily HoffmanMargaret HojloMakayla HonakerMichael HongGregory HooksSusannah HornerDanielle HortonMelanie HounchellDain HowesLark Huang-StormSamantha HunterHanna HutterEmily HydeTeresa IbanezKelly IngramDalia IstephanousSuma JacobAndrea JarrattAnna JelinekMary JohnsonMya JonesGarland JonesMark JonesAlissa JorgensonJessyca JudgeLuther KalbTaylor KalmusSungeun KangElizabeth KangasStephen KanneHannah KaplanSara KhanSophy KimAnnes KimAlex KitaygordskyCheryl KlaimanAdam KleverHope KoeneTanner KoomarMelinda KozaSydney KramerMeghan KrushenaEva Kurtz-NelsonElena LamarcheErica LampertMartine LamyRebecca LandaAlexa Lebron-CruzHolly LechniakSoo LeeBruce LeightMatthew LernerLaurie LesherCourtney LewisHai LiDeana LiRobin LiboveNatasha LillieDanica LimonDesi LimpocoMelody LinSandy LittlefieldBrandon LobisiLaura LocarnoNancy LongBailey LongKennadie LongMarilyn LopezTaylor LoveringIvana LozanoDaniella LucioAddie LuoMy-Linh LuuAudrey LyonJulia MaNatalie MadiLacy MallochReanna MankaryousPatricia ManningAlvin ManteyRichard MariniAlexandra MarsdenClarissa MarwaliGabriela MarzanoAndrew MasonSarah MastelSheena MathaiEmily MatthewsEmma MatusoffClara MaximCaitlin McCarthyLynn McClellenNicole MccoyKaylen McCulloughBrooke McDonaldJulie McGalliardAnne-Marie McIntyreBrooke McKennaAlexander McKenzieMegan McTaggartHannah MeinenSophia MelnykAlexandra MiceliSarah MichaelsJacob MichaelsonEstefania MilanMelissa MillerAnna MillikenKyla MintonTerry MitchellAmanda Moffitt GunnSarah MohiuddinGina MoneyJessie MontezumaLindsey MooneyMargo MooreAmy Morales-LaraKelly MorganHadley MorottiMichael MorrierMaria MunozAmbar Munoz LavanderosShwetha MuraliKarla MurilloKailey MurrayErin MyhreJason NeelyEmily NeuhausOlivia NewmanRichard NguyenVictoria NguyenEvelyn NicholsAmy NicholsonMelanie NiederhauserMegan NorrisShai NortonKerri NowellKaela O'BrienMitchell O'MearaMolly O'NeilBrian O'RoakEdith OcampoCesar Ochoa-LubinoffAnna OftJessica OrobioCrissy OrtizOpal OusleyMotunrayo OyeyemiLillian PachecoValeria PalaciosSamiza PalmerIsabella PalmeriKatrina PamaJuhi PandeyAnna Marie PaolicelliJaylaan ParkerMorgan PattersonKatherine PawlowskiErnest PedapatiMichah PepperJeremy PerrinChristine PeuraDiamond PhillipsKaren PierceJoseph PivenJuhi PlateJose PolancoNatalie Pott-SchmidtTiziano PramparoTaleen PrattLisa ProckStormi Pulver WhiteHongjian QiShanping QiuEva QueenMarcia QuestelAshley QuinonesDesiree RambeckShelley RandallVaikunt RanganathanLaurie RaymondMadelyn RayosKelly RealAnna RheaCatherine RiceHarper RichardsonStacy RiffleTracy RobertsonErin RobyAna RochaCasey RocheNicki RodriguezBianca RodriguezKatherine RoederDaniela RojasJacob RosewaterHilary RosselottPayton RunyanNicole RussoTara RutterElizabeth RuzzoMustafa SahinFatima SalemRebecca SanchezMuave SandersTayler SandersonSophie SandhuKatelyn SanfordSusan SantangeloMadeline SantulliDustin SarverMadeline SavageJessica ScherrHoa SchneiderHayley SchoolsGregory SchoonoverRobert SchultzCheyanne SeboltRebecca ShafferSana ShameenCurry SherardRoman ShikovAmelle ShillingtonMojeeb ShirAmanda ShockleeClara ShrierLisa ShulmanMatt SiegelAndrea SimonLaura SimonArushi SinghVini SinghDevin SmalleyKaitlin SmithChris SmithAshlyn SmithLatha SooryaJulia SosciaAubrie SoucyLaura StchurMorgan SteeleDiksha SrishylaDanielle StampsNicole SussmanAmy SwansonMegan SweeneyAnthony SziklayMaira TafollaJabeen TaibaNicole TakahashiSydney TerrosoCamilla StrathearnTaylor ThomasSamantha ThompsonEllyn TouchetteLaina TownsendMadison TrogKatherine TsaiAngela TsengPaullani TsheringIvy TsoMaria Valicenti-McdermottBonnie VanMetreCandace VanWadeSamuel TureckiKerrigan VargoCristiana VattuoneJeremy Veenstra-VanderweeleAlison VehornAlan Jesus Benitez VelazquezMary VerdiMichele VillalobosLakshmi VrittamaniAllison WainerJermel WallaceCorrie WalstonJiayaho WangAudrey WardZachary WarrenKatherine WashingtonGrace WesterkampSabrina WhiteLogan WinkFiona WinotoSarah WintersEricka WodkaSamantha XavierSidi XuYi YangWhaJames YangAmy YangMeredith YingerTimothy YuChristopher ZaroCindy ZhaHaicang ZhangHaoquan ZhaoAllyson ZickLauren Ziegelmayer SalmonYufeng ShenNatalia VolfovskyJacob B. HallPamela FelicianoWendy K. Chung
- Publication Details
- Genetics in medicine, v 26(10), 101202
- Publisher
- Elsevier
- Number of pages
- 18
- Grant note
- Simons Foundation Autism Research Initiative
Funding support provided by the Simons Foundation Autism Research Initiative.
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- English and Philosophy; Urban Health Collaborative; A.J. Drexel Autism Institute
- Web of Science ID
- WOS:001358565000001
- Scopus ID
- 2-s2.0-85202820885
- Other Identifier
- 991021889997004721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Genetics & Heredity