G2MC Quarterly Newsletter

August 2022

In this edition

  • G2MC 7th International Conference Update
  • Featured Young Investigator: Dr. Pratiksha Gyawali
  • Organizational Updates and Announcements
  • Recent G2MC Publications
  • Working Group and Flagship Project Updates
  • Other Genomic Medicine News and Events

Interested in joining G2MC or getting involved with a Working Group or Flagship Project? We want to hear from you! 

G2MC 7th International Conference

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G2MC International Conference To Be Held in Geneva in 2023

We are excited to share that the Global Genomic Medicine Consortium (G2MC) 7th International Conference will be held in 2023 in Geneva, Switzerland. The conference will take place during the September-October timeframe with exact dates to be announced soon. For those unable to attend in person, we will also be incorporating virtual sessions. The general focus of the conference will be how G2MC can influence and enhance collaborations with governing bodies and other organizations, and in particular, LMICs, to influence genomic medicine implementation worldwide. The theme, along with subthemes will be refined and announced soon.

Our past two conferences were held virtually due to the COVID-19 pandemic, so we are excited for the opportunity to convene in Geneva for this event. We hope you plan to join us in person or virtually for this leading-edge event bringing together world leaders to advance the field of genomic medicine. If you or your organization may be interested in being a conference sponsor, please contact us. Visit our conference webpage for regular updates as we continue conference planning.

Featured Young Investigator

G2MC is committed to fostering the growth of young investigators in the field of genomic medicine. Through the implementation of Young Investigator Forums at our international conferences and our G2MC Young Investigators Subcommittee, we hope to provide opportunities for our members to mentor and cultivate young talent in genomic medicine implementation all over the world.

Dr. Pratiksha Gyawali

As part of our Young Investigator Profile Series, we are excited to introduce Dr. Pratiksha Gyawali, MBBS, MD, from Nepal. While serving as a Young Investigator with G2MC, Dr. Gyawali currently works as a consultant biochemist at Dhulikhel Hospital, and as a Lecturer of Clinical Biochemistry at Kathmandu University, School of Medical Sciences, Nepal. Recently, she’s also begun work representing Nepal in the International Federation of Clinical Chemistry (IFCC) Task Force’s Global Newborn Screening Program. Continue reading to learn more about Dr. Gyawali and her research interests and career goals.

Organizational Updates and Announcements

Newest G2MC Steering Committee Members

Join us in welcoming our newest members to the G2MC Steering Committee! We are pleased to grow our leadership team with members who represent diverse backgrounds and geographic locations. Please click on the names below to learn more about each member. 

Bernard Esquivel
  • Personalized Medicine Latin American Association: President, LATAM
  • GenXys Healthcare Systems: Chief Medical Officer, Canada
  • Ixlayer: Clinical Lead, USA
  • Harrisons Healthcare: Precision Medicine Senior Medical Advisor, Canada
  • NIH-NCBI Medical Genetic Summaries: Editorial Board, USA
  • Pharmacogenomics Research Network: Founder Member, USA
Rupesh-Mishra
  • Clinical Geneticist and Head of Molecular Lab, Civil Service Hospital, Kathmandu, Nepal
Juergen Reichardt
  • Adjunct Professor, Australian Institute of Tropical Health and Medicine, James Cook University, Australia
MK Thong
  • Head, Genetics & Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia
  • Head, Genetic Medicine Unit, University of Malaya Medical Centre, 59100 Kuala Lumpur, Malaysia

Ginsburg To Be Presented With 17th Annual Award for Leadership in Personalized Medicine

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We are pleased to share that Geoffrey S. Ginsburg, M.D., Ph.D., Founder and Co-Chair of G2MC, will be presented with the 17th Annual Award for Leadership in Personalized Medicine during the Personalized Medicine Coalition (PMC) Personalized Medicine and the Patient summit on November 15, 2022.

Call for Funding Opportunities

The G2MC Development Committee is requesting for G2MC members to share potential funding opportunities, to be posted on the website and highlighted in our newsletters, with the goal of allowing other members the opportunity to consider collaborative proposals to answer them. Please submit ideas using the G2MC Contact form.

G2MC Publications

The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review

We are pleased to announce that the article “The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review” has been published online in Human Genetics, led and authored by members of the G2MC Evidence Working group. The publication is a result of a systematic evidence review of the clinical utility of genomic medicine that was conducted by our Evidence working group members and other experts beginning in late 2020.

An international genomics health workforce education priorities assessment

We are pleased to announce that the article “An international genomics health workforce education priorities assessment” has been published online in the Journal of Personalized Medicine, led and authored by members of the G2MC Education Working group. The publication is based on an international genomics education needs assessment survey conducted by the group in 2020. Of note, a medical student with the University of Alabama at Birmingham provided significant assistance and is the lead author on the publication.

Working Group and Flagship Project Updates

Visit the G2MC Working Groups and Flagship Projects webpage to learn more about our initiatives and how to get involved. 

G2MC Family Health History (FHH) Flagship Project

FHH Group Members Conduct First Medical Genetics Needs Assessment in Nepal

Pratiksha Gyawali, MBBS, MD, with Kathmandu University School of Medical Sciences, and Shane Quinonez, MD, with the University of Michigan, both members of G2MC’s Family Health History (FHH) group, are leading a project to identify the current capacity of providers to deliver medical genetics services in Nepal. The project, titled “Medical Genetics Need Assessment in Nepal,” will utilize an electronic survey targeting participants including Nepalese physicians, academicians, nurses and laboratory professionals involved in clinical care, laboratory services and research in various specialties. This project is a collaboration between Kathmandu University School of Medical Sciences, Dhulikhel Hospital, and the University of Michigan and is in support of the G2MC mission. Continue reading to learn more.

G2MC Education Working Group

Education Working Group Refines Goals, Elicits Suggestions for Future Projects

In addition to completing a manuscript authored by members of the Education Working Group and recently published in the Journal of Personalized Medicine, the Education Working Group continues to meet regularly to identify how the collective expertise of the group can promote the sharing of genomic medicine educational resources globally, while supporting projects that align with the G2MC mission. Continue reading to learn about the group’s latest initiatives.

Other Genomic Medicine News

Rare and Unknown Disease Project Website Now Live!

The Rare and Unknown Disease Project is an interdisciplinary 4-year project, funded by the Chilean Agency for Research and Development (ANID). The project, led by Gabriela Repetto, M.D., a member of the G2MC leadership team, is aimed at evaluating the personal, familial, healthcare and societal implications of reaching a diagnosis (or not) via exome sequencing for persons with unknown rare disorders in Chile. Continue reading to learn more. 

GA4GH Developing New Standard for Representation of Pedigree and Family Health History Information

As part of a multi-year effort engaging stakeholders from national genomic initiatives, clinical programs, and industry partners, the Global Alliance for Genomics and Health (GA4GH) is developing a new standard for the representation of pedigree and family health history information. Planning for publication this year, the GA4GH Pedigree Standard offers an updated data model, intended to fit within the structure of other standards like HL7 FHIR and Phenopackets. Continue reading to learn more.

WEDI Publishes Fact Sheet on Data Issues in Clinical Genomics

Health IT organization, WEDI, recently published a fact sheet on data issues in clinical genomics. The fact sheet was written by WEDI Genomics Work Group co-chair Grant Wood, who is also part of the G2MC leadership team. The fact sheet summarizes electronic health record (EHR) capabilities when it comes to storing and using genomic data, specifically in clinical practice. Continue reading to learn more and download the fact sheet.

Using Family Health History (FHH) Apps for Patient Care

An article recently published in Genes outlines a process to assist primary care professionals in choosing FHH digital tools for patient care based on the new ISO/TS 82304-2 Technical Specification (TS), which is a recently developed method to determine eHealth app quality. Grant Wood, G2MC leadership team member, is the lead author on the article titled “FHH Quick App Review: How Can a Quality Review Process Assist Primary Care Providers in Choosing a Family Health History App for Patient Care?” Click below to access the full article.

Get Involved With G2MC!

Interested in becoming a member of G2MC or getting involved with one of our Working Groups or Flagship Projects? Let us know below!

Our community is comprised of health professionals, scientists, and policymakers in over 35 countries. We collaborate to demonstrate the value and the effective use of genomics in medicine. Join us to share and learn best practices.

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