Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Filippo Pinto E VairoJennifer L KemppainenCarolyn R Rohrer VitekDenise A WhalenKayla J KolbertKaitlin J SikkinkSarah A KrocTeresa KruisselbrinkGabrielle F ShupeAlyssa K KnudsonElizabeth M BurkeElle C LoftusLorelei A BandelCarri A ProchnowLindsay A MulvihillBrittany ThomasDale M GableCourtney B GraddyGiovanna G Moreno GarzonIdara U EkpohEva M Carmona PorqueraFernando C FervenzaMarie C HoganMireille El TersKenneth J WarringtonJohn M DavisMatthew J KosterAmir B OrandiMatthew L BasiagaAdrian VellaSeema KumarAna L CreoAida N LteifSiobhan T PittockPeter J TebbenEjigayehu G AbateAvni Y JoshiElizabeth H RistagnoMrinal S PatnaikLisa A SchimmentiRadhika DhamijaSonia M SabrowskyKlaas J WierengaMira T KeddisNiloy Jewel J SamadderRichard J PresuttiSteven I RobinsonMichael C StephensLewis R RobertsWilliam A FaubionSherilyn W DriscollLily C Wong-KisielDuygu SelcenEoin P FlanaganVijay K RamananLauren M JacksonMichelle L MauermannVictor E OrtegaSarah A AndersonStacy L AoudiaEric W KleeTammy M McAllisterKonstantinos N LazaridisPublished in: Journal of translational medicine (2023)
Implementation of PRaUD and GTAC have enabled subspecialty practices advance expertise in RD where genetic counselors have not historically been embedded in practice. Democratizing access to genetic testing and counseling can broaden the reach of patients with RD and increase the diagnostic yield of such indications leading to better medical management as well as expanding research opportunities.