Featured G2MC Flagship Project: Genomic Medicine Clinics for Rare Genetic Disorders

The G2MC flagship project on Genomic Medicine Clinics for Rare Genetic Disorders is aimed at promoting implementation of Genomic Medicine in Low Middle Income Countries (LMICs). The partners in this project consist of 17 clinics in LMICs, the University of Maryland School of Medicine, and technical partners paid as fee-for-service contractors such as Centogene and Fabric Genomics. The project brings together clinical geneticists, genetic counsellors, genetic researchers, scientists, bioinformaticians and patients and families affected with rare genetic disorders. The project is funded by the RTW foundation, making it possible for G2MC to pilot the implementation model at 5 clinical sites in LMICs with capacity building for clinical evaluation, diagnostic decision making, clinical exome sequencing, genome data analysis, genetic diagnosis, and genetic/genomic counseling.

Below is the progress that has been made on this project thus far as well as upcoming goals.

Progress as of 1 December 2021:

  • Surveyed 17 sites that expressed interest in collaboration and selected 5 sites for the pilot project. The sites are located in Chile, Mexico, Sri Lanka, Malaysia, and South Africa.
  • Created the clinical workflow outlined below:
    1. Local clinical site identifies potential patients for testing. 
    2. Case pre-review conference for selection of cases at each of the LMIC sites.
    3. Sites consent and enroll probands and parents. Samples are sent to Centogene for exome sequencing.
    4. LMIC’S receive clinical report and exome sequencing data.
    5. UMD Coordinating Center and Clinical Site (if they desire) perform their own analysis of exome data using Fabric software (provided) or other software as available.
    6. Case conference conducted to review case (deidentified) and molecular diagnosis.
    7. Clinician and clinical site follow up with patient.
    8. Clinical site participates in obtaining outcomes data (details TBD)

*Analysis from these groups will be done in 2 cycles. Processes in the second cycle will be adjusted based on analysis from the first cycle. 

  • UMB IRB submission and approval. 
  • Chose Centogene as company for Genome sequencing and executed contract, coordinated the shipping of sample collection kits with successful delivery and kits on site prior to case pre-review date. 
  • Contracted with Fabric Genomics for genome analysis and training LMIC on review of sequence data.
  • Scheduled case pre-review conference for 6-Dec-21 for selection of the first 5 cases. 

Upcoming goals for Q1 2022:

  • Select cases at 6-Dec-21 case pre-review conference and submit samples for genome sequencing. 
  • Train sites on Fabric genomics software platform for genome analysis.
  • Schedule genome analysis conference to discuss findings of first genome sequencing cycle.
  • Hold 2nd Case pre-review conference and select final 5 cases from each site.
  • Track outcomes (TBD).
  • Develop full proposal to expand program.
LastFirstCountry
A Pardo VRosaChile
AbaanOganUnited States of America
AbadingoMichPhilippines
AbdelhakamDinaEgypt
AbdufulzomorodaIsrael
AbramowiczMarcSwitzerland
AdduculRufusPhilippines
AirikkalaElisaFinland
AkkenaRajeshIndia
Al-MullaFahdKuwait
AlabanAvivPhilippines
AlawarOmaymaUnited States of America
Alejandra Chavez SantoscoyR.Mexico
AliBassamUnited Arab Emirates
AliSuadMalaysia
AlvaradoVeraGuatemala
AlvarezCarolinaChile
Aly SangareMoussaMali
Andres Maureira CaviedesIgnacioChile
Ann AbacanMaryPhilippines
AnuradhaRajithaUnited States of America
AraosRafaelChile
AravenaTeresaChile
ArmisenRicardoChile
Ávila JaqueDianaChile
BabaiArwaUnited Kingdom
BabuMohanFinland
BaezPabloChile
BahcallOrliUnited States of America
Barlow-StewartKrisAustralia
barraza. ChileximenaChile
BelcherAndreaAustralia
BelcherAndreaAustralia
BertierGabrielleUnited States of America
BezuidenhoutHeidreSwitzerland
BlondelCarlosChile
Bon MacedaEbnerPhilippines
BrownCarlUnited States of America
BrugnolloAntonioBrazil
BryantNicUnited States of America
Buleje SonoJose LuisPeru
BustamanteEvaChile
CalaloCheryllPhilippines
CalzoneKathyUnited States of America
Cárdenas MuñozMatías Franklin Darío AlejandroChile
Carlos RubilarJuanChile
CarmonaPinkyPhilippines
CarrascoJavieraChile
CarvalloPilarChile
CastilloSilviaChile
CastilloValentinaChile
Cecilia PoliMariaChile
CerecedaKarinaChile
CherelStanBrazil
ChinonyeMaduagwunaNigeria
ChuYoyoHong Kong, China
CofréGlendaChile
CongXiaomeiUnited States of America
Coronado CavazosAydeéMexico
CortésBernalCosta Rica
CourtneyRobUnited States of America
CremonaLauraUnited States of America
DajoyagKevinaPhilippines
Danasabe JobbiYusufNigeria
DaniasKonstantinosGreece
Dawn MoralesKristinePhilippines
DíazCatherineChile
DickeySusanUnited States of America
DinatorJavieraChile
DissanayakeVajiraSri Lanka
Dominguez ValentinMevNorway
DowneyReneeUnited States of America
DunneEvanUnited States of America
Duran MojicaAnyeloChile
DwyerAndrewUnited States of America
E. López ParraJosefaSpain
EastKellyUnited States of America
Eduardo Hodar QuirogaChristianChile
El KamahGhadaEgypt
EncinaGonzaloChile
EricesAlejandroChile
Erika OrtezaMaryUnited States of America
EspinosayolandaChile
EsquivelBernardCanada
FadistaJoaoDenmark
FakhroKhalidQatar
FanarasVasileiosGreece
FanerMonettePhilippines
FasayeGraceUnited States of America
FebboPhilUnited States of America
FelicianoJazminePhilippines
FernandezMarioChile
FerreccioCatterinaChile
FieggenKarenSouth Africa
FindleyLaurieUnited States of America
FlorenciaMariaChile
Flores BjurströmCarmenSweden
FourniesHernanChile
From Sri LankaKamalathasanSri Lanka
FuentesIgnaciaChile
FuentesNoeliaArgentina
GahlWilliamUnited States of America
Garcia-BlojBenjaminChile
Garcia-HuidobroJenaroChile
Garrett-MeadNancyUnited States of America
GeyskensLilianeBelgium
GinsburgGeoffUnited States of America
GolfoGelliePhilippines
Gonzaga-JaureguiClaudiaUnited States of America
GonzalezEvelinChile
GonzálezIsabelChile
GoodhandPeterCanada
GriffinKatieAustralia
GronichNaomiIsrael
GuerraMarielaGuatemala
GutierrezMercedesMexico
GuzzardoPalomaUnited States of America
Guzzardo (US)PalomaUnited States of America
HammarAnne-MarjaFinland
HaspekRichUnited States of America
HernandezCarlosChile
HettiarachchiDineshaniSri Lanka
HobbsErnieUnited States of America
HowingtonLynnetteUnited States of America
HubbardTimUnited Kingdom
HungMing WaiHong Kong
HusermanJonathanChile
IglesiasDianaCanada
ImhofSaraUnited States of America
J. MorelliMarcoItaly
Jaldin CrespoLimbergChile
JenningsBarbaraUnited Kingdom
Jenny Marcelain CubillosKatherineChile
Jesús ZavalaMaríaChile
José CardonaJuanGuatemala
KachambwaPaidamoyoSouth Africa
KariofylliskaramperisGreece
KatsilaTheodoraGreece
KechagiaKonstantinaGreece
KennelHannahUnited States of America
KennyEimearUnited States of America
KesserwanChimeneUnited States of America
KhantAyekyawtMyanmar
KleinAndresChile
KocerAlissaUnited States of America
KolambageYasasSri Lanka
KorfBruceUnited States of America
KoslowAlanUnited States of America
KoufakiMargiannaGreece
KraiserTatianaChile
KumuthiniJuditSouth Africa
kunsokMalaysia
KutsunugiSaekoJapan
KyriakopoulouChristinaBelgium
LaaksonenMariFinland
LagosMarcelaChile
LandsmannPatriciaUnited States of America
LarrandaburuMarielaUruguay
LarrandaburuMarielaUruguay
Lay-SonGuillermoChile
LebensohnAlexandraUnited States of America
LeeJulianaMalaysia
LiDongUnited States of America
LiRonglingUnited States of America
LimLee-LingHong Kong, China
ListyasariNurinIndonesia
LiuYiUnited States of America
LizamaDomingoChile
LLamos PanequeArianneEcuador
LopezCatalinaColombia
LópezSergioChile
Lopez StarBethaniaMexico
Madrid CastilloAngelaPeru
Mae AvilaChristinePhilippines
Magbanua-CalaloChePhilippines
MaharjanKrishnaNepal
MaigaAl Hassan dit BaneyeMali
MakedonskaJanaBulgaria
MakridakisNickUnited States of America
MalopeMaleboSouth Africa
ManolioTeriUnited States of America
Maracaja CoutinhoViniciusBrazil
Marcelo Esquivel RomeroGustavoMexico
MargaritSoniaChile
Maria BuzalehAnaArgentina
Maria Martin ChileLuzChile
MarínMartaSpain
MartinFernandaChile
MartinRaineUnited States of America
MartinelliVivianeBrazil
MartínezMatíasChile
MatthijsGertBelgium
MaureiraIgnacioChile
Mawuli AdadeySamuelSouth Africa
MelitoVivianaArgentina
MelladoCeciliaChile
MeloCamilaChile
MendesGuilUnited States of America
MendezRodrigoArgentina
MerchantArshiyaUnited Kingdom
MerencillaRoxannePhilippines
MessersmithDonnaUnited States of America
MetspaluAndresEstonia
milleredwardUnited Kingdom
MishraRupeshNepal
MitropoulouChristinaGreece
MKThongUnited States of America
MogakaJohnBotswana
MooreHilaryUnited States of America
MulderNickySouth Africa
MunizTatianeBrazil
naparstekyaakovIsrael
NdadzaArinaoSouth Africa
NisselleAmyAustralia
NoordeenNafeesaSri Lanka
ObispoDaisyPeru
OchoaAnne SharmainePhilippines
OlguinValeriaChile
OlivaresGonzaloChile
Olugbemiro NafiuMikhailUnited States of America
OluwoleFemiSouth Africa
OnebunneEzinneNigeria
OngWinnieMalaysia
OrellanaVivianaChile
OrtegaVictoriaChile
OsorioClaudiaGuatemala
Pablo AlcayagaJuanChile
PadeniyaPadmapaniSri Lanka
PagnottaPriscilaArgentina
PareraVictoriaArgentina
PathiranaSajeewaniSri Lanka
Pati BhandariKailashIndia
Patricio MirandaJoseChile
Patricio Miranda - ChileJoseChile
PatrinosGeorgeGreece
PenangGaik SiewMalaysia
PereiraLygiaBrazil
PérezEduardoUnited States of America
PérezElisaChile
PilankarAsawariGermany
PollinToniUnited States of America
PopovicMilanBelgium
PosadaMarioUnited States of America
PrichepElissaUnited States of America
PriyawanshaThusharaSri Lanka
Puthen VeettilJitheshQatar
QuezadaMauricioChile
Quispe BravoBernardo EstebanPeru
RacomaMJPhilippines
Rakhra-BurrisTejinderUnited States of America
RamírezOrlandoChile
RasmussenSusanaChile
Rebolledo-JaramilloBorisChile
ReeseMartinUnited States of America
ReichardtJuergenAustralia
RellingMaryUnited States of America
RennertGadiIsrael
renniemelissaUnited States of America
RepettoGabrielaChile
RicherEtienneCanada
RivadaviaFernandoUnited States of America
RivasChrisEcuador
RivasSolangeChile
RobertsBenUnited States of America
RodriguezEstherSpain
RodriguezLauraUnited States of America
RodríguezCeciliaChile
RojasMarceloChile
SadeghpourAzitaUnited States of America
SalasSantiagoUnited States of America
San MartinEstebanChile
SandersNekeaUnited States of America
SayPabloUnited States of America
SchäferCarolinaChile
SchullySheriUnited States of America
ScottMeganSouth Africa
Sebastian MartinezHugoChile
ShiaoPamUnited States of America
ShibliRanaIsrael
ShuldinerAlanUnited States of America
SifaquiSofiaChile
SimoesVagnerBrazil
SinclairAndrewAustralia
SirisenaNirmalaSri Lanka
SismanoglouDespoinaGreece
smolowitzJaniceUnited States of America
SolisErnestoChile
SoorianarayananTharisiniMalaysia
SoorianarayananTharisiniMalaysia
Spring-PearsonCynthiaUnited States of America
SubasingheVindyaSri Lanka
SwaminathanSoumyaSwitzerland
ThundersMichelleNew Zealand
TiongSyMalaysia
Titus NgenoG.United States of America
TokutomiTomoharuJapan
ToledoKarenChile
ToroJessicaChile
ToweryMeredithUnited States of America
Tri Nugroho SupranotoYehudaIndonesia
TumanengRozelPhilippines
TumulakMa-AmPhilippines
TurraFelipeUnited States of America
Twumasi AboagyeElvisGhana
VahtMariliisEstonia
ValezJenniferColombia
VarelaLauraArgentina
VerdugoRicardoChile
Victoria Layson-LisingNadinePhilippines
Vila PerezMarianaArgentina
VillalbaCristalBrazil
VillarroelDanielaChile
VillarroelFranzChile
VinascoEdnaGuatemala
VossJoachimUnited States of America
VrentzouMarinikyGreece
WallingJenniferUnited States of America
WanChenCanada
WasikKajaUnited States of America
WiafeSamuelGhana
Wood USAGrantUnited States of America
Xorse AmuzuEvansUnited States of America
YalcouyéAbdoulayeMali
Yee LingCheahMalaysia
YusufAminuNigeria
ZambranoAnaEcuador
ZamoraVanessaGuatemala
ZickBrittanyUnited States of America
ZuccoliJohannaArgentina
-AndreaPeru
-FernandaUnited States of America
-FernandaBrazil
-PhilUruguay
-rizqasulaiman-baradienSouth Africa
-WaseemUnited States of America