Amanda Bergner, MS, LCGC

  • Professor of Genetic Counseling (in Genetics and Development) at the CUMC
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Overview

Amanda Bergner is a Professor Genetic Counseling at Columbia University Irving Medical Center, the founding Director for the Columbia University Program in Genetic Counseling, and a genetic counselor in the Department of Neurology. She earned her genetic counseling degree from the University of California Berkeley and has several decades of experience in education, research, and clinical care. Ms. Bergner’s clinical work is focused in neurogenetics, she has developed and worked with several multidisciplinary clinics for a variety of neurological and rare disease indications including epilepsy, neurofibromatosis, neuromuscular disorders, ataxia, Huntington disease and ALS. She is now the genetic counselor for both the Columbia University HDSA Center of Excellence and the Columbia University NF Clinic. She has extensive experience in genetic/genomic research and has primarily focused on improving care for people and families with neurogenetic disorders, as well as working to increase access to genetic counseling and genetic testing.


Academic Appointments

  • Professor of Genetic Counseling (in Genetics and Development) at the CUMC

Administrative Titles

  • Director, Genetic Counseling Graduate Program

Gender

  • Female

Credentials & Experience

Education & Training

  • BA, 1994 University of Virginia
  • MS, 2001 Genetic Counseling Graduate School, University of California Berkeley

Research

Ms. Bergner’s research had been focused in several areas, including understanding the value of genetic testing for the epilepsies. The application of genetic testing in the setting of epilepsy has increased tremendously in the past decade, moving from single gene testing to multi-gene panels and broader genomic sequencing. Her research into the use of genetic testing in epilepsy and the value of genetic testing results in the management of epilepsy is helping to shape the national conversation on the importance of this tool in the treatment of individuals and families, including her involvement in conducting the systematic literature review that led to the first practice guideline for genetic testing in the epilepsies. Ms. Bergner has also focused her research on the growing awareness of critical aspects of conducting clinical genomics research. Genome sequencing is becoming commonplace in clinical research focused on discovering genetic contributions to both rare and common disease. Her research has helped to elucidate several important considerations when undertaking this type of research in the clinic, including consent best practices and the return of results to subjects/patients. This work has helped to shape the national conversation about integrating research-based genomic sequencing into existing clinical practices, ultimately supporting informed decision-making for individuals and families.

As well, Ms. Bergner has focused on the improvement of key quality of life components for individuals with neurofibromatosis. The neurofibromatoses (NF) are a group of disorders that can lead to significant morbidity and mortality. Individuals living with NF typically experience functional impairments in multiple body systems, including hearing loss, vision loss, mobility issues, communication difficulties, stigma, social isolation, and mental health disorders. While current trials focus on medical and surgical interventions to improve functional impairments with quantifiable outcomes, less has been explored in terms of patient-reported data about both quality of life and outcomes of intervention for NF. As part of her post-graduate research, Ms. Bergner investigated this problem and found that patient report is a critical component of evaluating both the impact of the symptoms of NF and potential intervention. Patient report can be valuable in two primary areas in which clinical trials are currently underway: hearing loss, and pain/physical functioning. As well, her research has helped to identify the most effective patient-reported outcome measures to be used in clinical trials in NF through the Response Endpoints in Neurofibromatosis and Schwannomatosis (REiNS) consortium, a group of international experts in NF. Collectively, the results from my research has opened new directions for evaluating response in clinical trials for NF. She has additionally been involved in making practice recommendations for the genetic counseling profession regarding NF.