Class of 2024

**NSGC Pediatric Special Interest Group Student Research Award**

Title: Reclassification preferences of patients in general genetics for variants of uncertain significance

Study Objective: Assess the level of responsibility clients/patients feel to seek reclassification information, preferences for receiving this information, and satisfaction and understanding when information is provided by phone versus email.

Mentors

• Primary: Priyanka Ahimaz, MS, CGC (Department of Pediatrics)
• Charlotte Close, MS, CGC (Department of Pediatrics)
• Nora Nesheiwat, MS, CGC (Department of Pediatrics)

Title: Ophathalmology genetics providers and the needs of the retinitis pigmentosa (RP) community

Study Objective: Explore support needs of people living with RP and distinguish those currently being met by ophthalmology genetics clinics to determine areas for further development of services.  

Mentors

• Primary: Megan Soucy, MS, CGC (Departments of Pathology & Cell Biology, Ophthalmology)
• Priyanka Ahimaz, MS, CGC (Department of Pediatrics)
• Irene Maumanee, MD (Department of Ophthalmology)

Title: Evaluating the efficacy of mainstreaming genetic testing for patients with pancreatic adenocarcinoma

Study Objective: Assess reported outcomes of people with pancreatic cancer who have received counseling by an oncologist or a genetic counselor to optimize the genetic testing process and improve access.

Mentors

• Primary: Elana Levinson, MS, MPH, CGC (Department of Medicine)
• Michelle Florido, MS, CGC (Department of Genetics & Development)
• Kimberly Hilfrank, MS, MPH, CGC (Department of Medicine)
• Fay Kastrinos, MD (Department of Medicine)

**NSGC ART/Infertility Special Interest Group Student Research Award**

Title: Exploring patient preferences and knowledge about expanded carrier screening

Study Objective: Explore patient preferences and knowledge about expanded carrier screening, including what they think they will learn and how they plan to use this information. 

Mentors

• Primary: Josie Pervola, MS, CGC (Department of OBGYN)
• Amanda Bergner, MS, LCGC (Departments of Genetics & Development, Neurology)
• Erica Spiegel, MS, CGC (Department of OBGYN)

Title: Fetal genome sequencing in the absence of anomalies detected by ultrasound

Study Objective: Explore the perspectives and needs of clients who have elected to pursue fetal genome sequencing during pregnancy in the absence of fetal anomalies.

Mentors

• Primary: Jessica Giordano, MS, CGC (Department of OBGYN)
• Amanda Bergner, MS, LCGC (Departments of Genetics & Development, Neurology)
• Stephanie Galloway, MS, CGC (Department of OBGYN)
• Alexandra Tinfow, MS, CGC (Department of OBGYN)

Title: Clinical utility of genomic testing in a kidney disease population

Study Objective: Assess the clinical utility of genomic services, including genetic testing and genetic counseling, in a patient population with kidney disease.

Mentors

• Primary: Natalie Vena, MS, CGC (Department of Medicine)
• Kelsie Bogyo, MS, CGC (Department of Medicine)
• Michelle Florido, MS, CGC (Department of Genetics & Development)

Title: Potential clinical utility of pharmacogenomic testing to inform medication administration in the pediatric intensive case unit (PICU)

Study Objective: Evaluate the yield of pharmacogenomic results from whole exome sequencing and assess the overlap of patients with clinically actionable alleles who were prescribed contraindicated medications in the PICU.

Mentors

• Co-Primary: Joshua Motelow, MD (Department of Pediatrics); Anya Revah Politi, MS, CGC (Department of Neurology)
• Michelle Florido, MS, CGC (Department of Genetics & Development)
• Megan Soucy, MS, CGC (Department of Ophthalmology)

**NSGC Neurogenetics Special Interest Group Student Research Award**

Title: Increasing access to genetic testing and counseling in the epilepsies

Study Objective: Identify barriers preventing epileptologists from implementing recent practice guidelines for epilepsy genetic testing and pre- and post-test counseling.

Mentors

• Co-Primary: Natalie Lippa, MS, CGC (Department of Medicine); Maureen Mulhern, MS, CGC (Department of Neurology)
• Amanda Bergner, MS, LCGC (Departments of Genetics & Development, Neurology)
• Tristan Sands, MD, PhD (Department of Neurology)

Title: Increasing access to genetic testing and counseling for kidney disease

Study Objective: Evaluate the accessibility of the kidney genetics clinic at CUIMC and explore interventions that will allow for maximal patient access to the clinic.

Mentors

• Primary: Kelsie Bogyo, MS, CGC (Department of Medicine)
• Michelle Florido, MS, CGC (Department of Genetics & Development)
• Hila Milo Rasouly, PhD, MS (Department of Medicine)

**NSGC JEMF Student Research Award**

Title: Development of patient-driven guidelines on collecting race, ethnicity, and ancestry information during pedigree construction

Study Objective: Create a tool to drive best practices for genetics providers to collect race, ethnicity, and ancestry information during pedigree construction.

Mentors

• Primary: Priyanka Ahimaz, MS, CGC (Department of Pediatrics)
• Carli Andrews, MS, CGC (Baylor Genetics)
• Jessica Giordano, MS, CGC (Department of OBGYN)

**NSGC Inpatient Special Interest Group Student Research Award**

Title: Comparing inpatient and outpatient pediatric populations who receive genetic testing

Study Objective: explore similarities and difference between outpatient and inpatient populations receiving genetic counseling/testing to support equitable provision of services across both settings. 

Mentors

• Primary: Michele Disco, MS, CGC (Department of Pediatrics)
• Priyanka Ahimaz, MS, CGC (Department of Pediatrics)
• Liz Mizerik, MS, CGC (Texas Children's Hospital)

Title: Increasing access to genetic counseling in Puerto Rico

Study Objective: Explore the uptake and outcomes of implementing telehealth genetic counseling services in Puerto Rico.

Mentors

• Primary: Amanda Bergner, MS, LCGC (Departments of Genetics & Development, Neurology)
• Enrique Lopez, MS, CGC (Saint Joseph's University Medical Center)
• Aisha Rekab, MS, CGC (Department of Pediatrics)
• Alissa Terry, MS, CGC (NYMAC)