Class of 2025

Title: Perceptions of Spanish-Speaking Patients and Spanish-Speaking Genetics Providers on Race, Ethnicity, and Ancestry (REA) Questions in Genetic Counseling Sessions

Study Objective: explore the perspectives of Spanish-speaking patients and Spanish-speaking genetics providers regarding the practice of asking REA questions to reduce harm.

Mentors

• Primary: Jessica Giordano, MS, CGC (Department of OB/GYN)
• Priyanka Ahimaz, MS, CGC (Department of Pediatrics)
• Daniela Diaz Caro, MS, CGC (Department of Neurology)
• Carlos Dominguez Gonzalez, MS, CGC (Children's Hospital of Philadelphia)

**2024 NSGC Pediatrics and Clinical Genetics SIG Research Grant Award**

Title: Comparing the Diagnostic Capability of Large Language Models and Clinical Geneticists

Study Objective: examine the diagnostic capacity of ChatGPT for identifying genetic syndromes and conditions to better support non-genetics healthcare providers in their practice.

Mentors

• Primary: Andrés Morales Corado, MD (Department of Pediatrics)
• Priyanka Ahimaz, MS, CGC (Department of Pediatrics)
• Sara Berger, MS, CGC (Department of Pediatrics)
• Cong Liu, PhD (Department of Biomedical Informatics)

**2024 NSGC Cancer Genetics SIG Research Grant Award**

Title: Perspectives of Young Adult BRCA Carriers on Communication around Prophylactic Surgery

Study Objective: explore the perspectives and priorities of young adult BRCA1/2 carriers about genetic counselor communication regarding prophylactic surgery.

Mentors

• Primary: Michelle Florido, MS, CGC (Department of Genetics & Development)
• Katie Foudy, MS, CGC (Department of Medicine)
• Julia Wynn, MS, CGC (BillionToOne)
• Joanna Urli, MS, CGC (Department of OB/GYN)

Title: Variations and Similarities in Predictive Genetic Testing Protocols for Adult-Onset Neurodegenerative Disorders

Study Objective: explore current clinical practices across the United States regarding the use of predictive genetic testing protocols for various adult-onset neurodegenerative disorders.

Mentors

• Primary: Ellie Harrington, MS, CGC (Department of Neurology)
• Amanda Bergner, MS, LCGC (Departments of Genetics & Development, Neurology)
• Maureen Mulhern, MS, CGC (Department of Neurology)

**2024 JEMF Student Research Grant Award**

Title: Integrating Genetic Counseling Services into Student Run Free Clinics to Increase Access 

Study Objective: assess the feasibility of integrating genetic counseling services into the Columbia Student Medical Outreach (CoSMO) clinic, a student run free clinic serving uninsured patients in Washington Heights and Northern Harlem

Mentors

• Primary: Amanda Bergner, MS, LCGC (Departments of Genetics & Development, Neurology)
• Sarah Wang, MS, CGC (Bellevue Hospital Center)
• James Jordan, MD (Vanderbilt University)

**2024 NSGC Renal SIG Research Grant Award**

Title: Increasing Access to Genetic Counseling and Genetic Testing for People with Kidney Disease

Study Objective: assess barriers and facilitators of genetic counseling and genetic testing for nephrology genetics at Columbia University Irving Medical Center to inform interventions that maximize accessability of services.

Mentors

• Primary: Kelsie Bogyo, MS, CGC (Departments of Pathology & Cell Biology, Medicine)
• Priyanka Ahimaz, MS, CGC (Department of Pediatrics)
• Hila Milo Rasouly, PhD, MS (Department of Medicine)
• Maya Sabatello, LLB, PhD (Department of Medical Humanities & Ethics)

**2024 NSGC Pediatrics and Clinical Genetics SIG Research Grant Award**

Title: Exploring the Terminology Used by Clinical Genetic Counselors for Intellectual and Developmental Disabilities

Study Objective: assess the experiences of, and terminology used by, clinical genetic counselors when counseling about intellectual and developmental disabilities.

Mentors

• Primary: Josie Pervola, MS, CGC (Department of OB/GYN)
• Michelle Florido, MS, CGC (Department of Genetics & Development)
• Yakira Begun, MS, CGC (Department of Pediatrics)
• Ashley Wilson, MS, CGC (New York Genome Center)

Title: To Test or Not to Test: That is the Question (Again) 

Study Objective: explore the perspectives of people at risk for HD about the potential introduction of HD modifier gene testing as a supplement to existing testing for the presence of an HTT repeat expansion.

Mentors

• Primary: Jill Goldman, MS, MPhil, CGC (Department of Neurology)
• Amanda Bergner, MS, LCGC (Departments of Genetics & Development, Neurology)
• Amanda Chan, MS, CGC (Department of Neurology)
• Wendy Uhlmann, MS, LCGC (University of Michigan)

Title: Genetic Counselors’ Experiences Providing Medical and Emotional Support Following Stillbirth

Study Objective: explore current genetic counselor experiences related to stillbirth and assess level of comfort and preparedness to provide medical and emotional support to patients following stillbirth.  

Mentors

• Primary: Alexandra Tinfow, MS, CGC (Department of OB/GYN)
• Michelle Florido, MS, CGC (Department of Genetics & Development)
• Jessica Giordano, MS, CGC (Department of OB/GYN)
• Carina Bertolini, MS, CGC (Department of OB/GYN)

Title: Genotype-Phenotype Correlations in Patients with Polycystic Kidney Disease

Study Objective: describe the clinical and genetic characteristics of the patient population at the Columbia University Irving Medical Center PKD Center of Excellence as compared with national data in order to further refine existing, and identify novel, genotype-phenotype correlations.

Mentors

• Primary: Natalie Vena, MS, CGC (Department of Medicine)
• Michelle Florido, MS, CGC (Department of Genetics & Development)
• Brenna Boyd, MS, CGC (Department of Pediatrics)
• Heedeok Han, MD (Department of Medicine)

Title: The Use of Visual Aids in Nephrology Genetics to Increase Awareness about the Relevance of Genetic Testing to Their Care

Study Objective: develop effective patient-facing infographic materials to be used in educating chronic kidney disease patients about the value of genetic testing for this condition.  

Mentors

• Primary: Hila Mila Rasouly, PhD, MS (Department of Medicine)
• Amanda Bergner, MS, LCGC (Departments of Genetics & Development, Neurology)
• Natalie Lippa, MS, CGC (Department of Medicine)
• Suzanne Bakken, RN, PhD, FAAN, FACMI (Department of Bioinformatics)

**2024 NSGC International Genetic Counseling SIG Research Grant Award**

Title: International Genetic Counselors' Perspectives on the Practice of Asking Patients about their Race/Ethnicity/Ancestry (REA)

Study Objective: understand how GCs from non-US countries ask patients for REA information, how these GCs utilize this information in their practice, and how the collection of this information is perceived by patients in their country of practice.

Mentors

• Primary: Priyanka Ahimaz, MS, CGC (Department of Pediatrics)
• Nora Nesheiwat, MS, CGC (Department of Pediatrics)
• Monisha Sebastin, MS, CGC (Children's Hospital at Montefiore)
• Carli Andrews, MS, CGC (Baylor Genetics)