Genetic Testing: Carrier Screening and Pharmacogenomics (1 CM)

Title: Genetic Testing: Carrier Screening and Pharmacogenomics

Presenters: Kady Murphy, MS, CGC; Aimiel Casillan, MS, CGC

Original Date: October 24, 2024

CEC: 1 Clinical Medicine

Cost: $5 Student Members/$15 Members/$25 List Price

Session Description: This session will engage participants in the fundamentals of genetic/genomic testing that are routinely offered as part of reproductive and general genetics patient care. Our speakers will provide a refresher on genes and inheritance patterns. This session will focus on carrier screening and pharmacogenomic (PGx) testing and their practical applications in healthcare. Genetic carrier screening helps to identify individuals who carry genetic mutations that could be passed on to their children, shedding light on family planning decisions. In pharmacogenetic testing, we'll discuss how genetic variations impact how our bodies metabolize medications. This is crucial for tailoring treatment plans to individual patients, optimizing effectiveness and minimizing adverse reactions. This session will benefit attendees in expanding their knowledge of genomic technologies and allow for accurate documentation in clinical care settings.

Learning Objectives

1. Understand the benefits/limitations of carrier screening.

2. Understand autosomal recessive and X-linked inheritance patterns.

3. Understand the fundamentals of pharmacogenetic (PGx) testing.

4. Identify barriers and challenges of considering carrier screening and PGx in patient care.

5. Apply results of both carrier screening and PGx in a clinical case example.

About the Speakers: Kady and Aimiel are both certified genetic counselors working at Valley Children’s Hospital. Kady has six years of experience in prenatal genetic counseling, and Aimiel has two years of experience in prenatal and cardiovascular genetic counseling, as well as pharmacogenomics.