Data issues in Genetic Medicine

Description

This webinar will review the basic concepts of machine learning and data science, describing how recent advances in artificial intelligence technology can enable new applications in medical genetics. The talk will introduce concepts such as data modalities, data value chain and data structuring/abstraction. The speaker will review how large language models (LLMs) such as GPT can accommodate heterogeneity intrinsic in healthcare data and will deep dive into a use case for AI-assisted clinical note summarization in Rare Disease, powered by LLMs. The talk will conclude with an overview of other potential AI applications in medical genetics (or health care more broadly), as well as discuss the risks and challenges with introducing AI-assisted tools into medical genetics

Level of Instruction
Basic - Entry level; no prior knowledge of subject necessary

Learning Objectives

  1. Identify the various data modalities in genetic medicine. 
  2. Review the data lifecycle and value chain from raw to curated information.
  3. Evaluate opportunities and challenges for leveraging health data for AI applications
Course summary
Available credit: 
  • 0.10 NSGC CEU
  • 1.00 PACE Contact Hour
Course opens: 
06/12/2025
Course expires: 
06/12/2027
Cost:
$0.00

Presenter: Donavan Cheng, PhD

Chief Science & Technology Officer at Ambry Genetics

Donavan Cheng is the Chief Science and Technology Officer at Ambry Genetics. He graduated with a PhD in Biomedical Engineering from Johns Hopkins University School of Medicine. In this role, he manages the Informatics and R&D efforts at Ambry. For informatics, he leads a team of bioinformaticians, software development and systems engineers to innovate, architect, and develop pipelines and applications for Ambry’s product portfolio. Donavan leverages his experience in assay development and molecular technologies to advance the company's R&D efforts. Prior to joining Ambry, Donavan worked at Guardant Health on minimal residual disease testing, at Illumina on cloud-based genomics software and at Memorial Sloan Kettering Cancer Center on the MSK-IMPACT clinical bioinformatics team.

 

Moderator: Victoria Suslovitch, MS, CGC

Clinical Learning & Development Manager at Ambry Genetics

Victoria Suslovitch (Tori) was drawn to genetic counseling as a way to combine her interests and experiences in genetics, neurology, public health, and education. She received her Master of Science in Genetic Counseling degree from Boston University, and is certified by the American Board of Genetic Counseling. She began her career as a Research Genetic Counselor in the Yu Laboratory at Boston Children's Hospital, in a program that designed and developed experimental therapeutics for children with ultra-rare neurogenetic diseases. Tori has been at Ambry Genetics since 2023 -- first as a Genomic Science Liaison and now as a Medical Learning & Development Manager -- where she educates healthcare providers and lab personnel alike about genetics and genomics

Educational Independence and Disclosure Policy

EducateNext is committed to providing independent, objective, and evidence-based educational content. None of the individuals in control of this content—including our planners, reviewers, and approval faculty—have any financial relationships with ineligible companies to disclose. For all educational sessions, speaker-specific disclosures regarding any potential conflicts of interest are required and will always be shared directly with learners at the beginning of their respective presentations.

Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Programs.

 

Available Credit

  • 0.10 NSGC CEU
  • 1.00 PACE Contact Hour

Price

Cost:
$0.00
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