Class of 2026

Title: Cascade Testing In Racially/Ethnically Diverse Relatives of Patients with Breast or Ovarian Cancer

Study Objective: Examine the key barriers and facilitators that influence cascade testing uptake among racially and ethnically diverse relatives of probands with HBOC-associated pathogenic variants

Mentors

• Co-Primary: Elana Levinson, MS, MPH, CGC (Department of Medicine)
• Co-Primary: Alissa Michel, MD (Department of Medicine)
• Michelle Florido, MS, CGC (Department of Genetics & Development)

Title: A New Framework for Community Engagement among Columbia University Biobank Participants

Study Objective: Explore the opinions and perspectives of biobank participants, determine the preferred type and modality of
receiving updates on research projects, and to implement these findings into the design of a patient-facing portal and/or consultative service.

Mentors

• Primary: Danielle Pendrick, PhD (Columbia Interdisciplinary Research Initiatives)
• Amanda Bergner, MS, LCGC (Departments of Genetics & Development, Neurology)
• Natalie Vena, MS, CGC (Department of Medicine)

**2025 NSGC Pediatric and Clinical SIG Research Grant Award**

Title: Disease Concept Map for HNRNPH2-Related Neurodevelopmental Disorder: Validation and Expansion into the Adult Population

Study Objective: Identify unique concerns of adults living with this condition and create an updated visual disease concept model tailored to this life stage.

Mentors

• Primary: Maureen Mulhern, MS, MAT, CGC (Departments of Pathology & Cell Biology and Neurology)
• Jennifer Bain, MD, PhD (Department of Neurology)
• Jill Goldman, MS, MPhil, CGC (Department of Neurology)
• Terry Jo Bischell, MD, MPH (Vanderbilt School of Medicine)

**2025 NSGC International SIG Research Grant Award**

Title: Comparison of the Journey from a Prospective Applicant to a Genetic Counselor between Domestic and International Graduates: A Qualitative Analysis of Genetic Counselors

Study Objective: Explore the experiences of genetic counselors in the US who matriculated as domestic or international graduates, examining their journeys from prospective applicants to practitioners to identify challenges and gaps in support systems.

Mentors

• Primary: Monisha Sebastin, MS, CGC (Children's Hospital at Montefiore)
• Priyanka Ahimaz, MS, CGC (Departments of Pediatrics)
• Eden Brush, MS, CGC (Department of Pediatrics)
• Katie Gallagher, MS, CGC (Sarah Lawrence College)

Title: The Equitability of Traditional Carrier Screening Workflow at a Single Institution 

Study Objective: Explore the frequency of partner carrier screening and demographic and pregnancy characteristics that may be associated with follow through of this recommendation among a predominantly low-income population seeking prenatal
and preconception care.

Mentors

• Co-Primary: Erica Spiegel, MS, CGC (Department of OB/GYN)
• Co-Primary: Julia Wynn, MS, CGC (BillionToOne)
• Michelle Florido, MS, CGC (Department of Genetics & Development)
• Jessica Giordano, MS, CGC (Department of OB/GYN)

Title: Genomic Return of Results: A Survey of Large Biobanks in the US

Study Objective: Determine how individual biobanks define the types of genetic results to return to participants and specifically what results they return, as well as exploring the role of GCs within biobanks to determine if there is a greater need in this space.

Mentors

• Co-Primary: Natalie Lippa, MS, CGC (Department of Medicine)
• Co-Primary: Danielle Pendrick, PhD (Columbia Interdisciplinary Research Initiatives)
• Amanda Bergner, MS, LCGC (Departments of Genetics & Development, Neurology)
• Noelle Lynch, MS, CGC (Department of Pediatrics) 

**2025 NSGC Cystic Fibrosis SIG Research Grant Award**

Title: Providing Access to Genetic Counseling for Adolescents and Young Adults with Cystic Fibrosis

Study Objective: Develop a process for integrating CF genetic counseling with reproductive health counseling for adolescents and young adults with CF, increasing access to care for people with CF as they transition from pediatric to adult care. 

Mentors

• Primary: Charlotte Close, MS, CGC (Department of Pediatrics)
• Amanda Bergner, MS, CGC (Departments of Genetics & Development, Neurology)
• Kimberly Hilfrank, MS, MPH, CGC (Department of Medicine)

Title: Clinical and Genetic Spectrum of TARDBP-related ALS and FTD

Study Objective: Consolidate detailed information regarding the clinical presentation and genetic variants of TARDBP ALS and FTD, allowing clinicians and genetic counselors to provide more targeted care and clearer risk assessment.

Mentors

• Primary: Elizabeth Harrington, MS, CGC (Department of Neurology)
• Maureen Mulhern, MS, MAT, CGC (Departments of Pathology & Cell Biology, Neurology)
• Matt Harms, MD, PhD (Department of Neurology)

**2025 New York State Genetics Task Force DEI Research Grant Award**

Title: Exploring the Impact of Social Determinants of Health on Patient Referrals, Attendance, and Outcomes in an Urban Epilepsy Clinic

Study Objective: Explore whether patients with unexplained epilepsy are receiving appropriate genetic counseling and testing as detailed in current clinical
guidelines and whether there specific social determinants of health associated with referral to genetic counseling and completion of genetic testing.

Mentors

• Primary: Daniela Diaz Caro, MS, CGC (Department of Neurology)
• Maureen Mulhern, MS, MAT, CGC (Departments of Pathology & Cell Biology, Neurology)
• John Wetmore (Department of Neurology)

**2025 New York State Genetics Task Force DEI Research Grant Award**

Title: Assessing the Frequency of Variant Reclassification Among Different Ethnicities in a Broad Pediatric Cohort

Study Objective: Assess differences in variant reclassification rates across ethnicities in a general genetics cohort to better tailor counseling for diverse populations when consenting for NGS testing.

Mentors

• Primary: Priyanka Ahimaz, MS, CGC (Department of Pediatrics)
• Aisha Rekab, MS, CGC (Department of Pediatrics)
• Aida Telegrafi, MS, CGC (Variantyx)
• Heedeok Han, MD (Department of Medicine)

Title: Testing the Effectiveness of Large Language Models as a Genetics Referral Support Tool among Pediatricians

Study Objective: Assess how the use of LLM supplemented with educational tools (prompt manual and module) compare in assisting primary care providers with differentiating appropriate referrals to general genetics clinics. 

Mentors

• Primary: Andres Morales Corado, MD (Department of Pediatrics)
• Priyanka Ahimaz, MS, CGC (Departments of Pediatrics)
• Sara Berger, MS, CGC (Department of Pediatrics)

Title: Exploring Patient Experiences with Genome Sequencing for Stillbirth

Study Objective: Explore how patient and partner experiences with genome sequencing after stillbirth can inform implementation
of this technology into standard of care.

Mentors

• Primary: Jessica Giordano, MS, CGC (Department of OB/GYN)
• Alexandra Demers, MS, CGC (Department of OB/GYN)
• Michelle Florido, MS, CGC (Department of Genetics & Development)
• Sophie Adams, MS, CGC (Brigham & Women's Hospital)