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Friday, October 20

Please note that all times are listed in Central Standard Time (CST) and that the schedule is subject to change.

7:30 a.m. - 5:00 p.m.

Registration Open

7:45 a.m. - 8:30 a.m.

Sponsored Breakfast Symposia*

Ambry Genetics- Reassessed and Revealed: Patient and Genetic Counselor Experience with Proactive Reanalysis

Participants​: Meagan Farmer, MS, MBA, LCGC; Meghan Towne, MS, CGC, LGC; Kelly Minks, MS, CGC

Session Summary: Check back soon for more information. 

8:45 a.m. - 9:30 a.m.

Sponsored Breakfast Symposia*

Rhythm- Introduction to Rare Melanocortin-4 Receptor Pathway Diseases

Participants​: Heidi Shea, MD, FAAP, FACE,  Adult and Pediatric Endocrinologist, Endocrine Associates of Dallas

Session Summary: Introduce and define rare MC4R pathway diseases. Describe how hyperphagia is different from other overeating behaviors and disorders. Illustrate how rare variants in key MC4R pathway genes impact body weight and health. Discuss the role of genetic testing in rare genetic diseases of obesity.

10:00 a.m. - 2:00 p.m.

Exhibit Hall Open (lunch options available for purchase starting at 12:00 p.m.

10:15 a.m. - 11:15 a.m.

Platform Presentations

12:15 p.m. - 1:30 p.m. 

Sponsored Lunch Symposia*

PreventionGenetics- Prenatal WES: Diagnostic Yield, Syndromic Landscape, and Incidence and Uptake of Secondary Findings

Participants​: Kayleigh Avello, MS, CGC; Shawn Gessay, MS, CGC

Session Summary: In this talk, we will explore the diagnostic yield of phenotypically-relevant findings from our prenatal WES analysis. In addition, the American College of Medical Genetics and Genomics (ACMG) added to their position statement that prenatal WES should include an opt-in for their list of medically-actionable genes and genes that can cause a childhood-onset disorder2. These secondary findings categories were added to our prenatal WES tests in 2021, and we discuss the uptake, incidence of positive reporting, and types of conditions that have surfaced through that portion of the analysis.

PTC Therapeutics, Inc. - Navigating Neurometabolic Disorders: Following the Signposts for Early Diagnosis

Participants​: Ryan Miller, MS, CGC, PTC Therapeutics

Session Summary: Learing objectives:

  • Improve and accelerate the early diagnosis of pediatric Neurometabolic Disorders
  • Help identify AADC deficiency specifically, including an understanding of the relevant diagnostic challenges

1:30 p.m. - 2:00 p.m. 

Passport to Prizes

2:00 p.m. - 2:45 p.m.

Audrey Heimler Special Projects Award (AHSPA)

Participants​: Dawn Laney, MS, CGC, CCRC; Jessica Giordano, MS, CGC; Carli Andrews, MS, CGC

Session Summary:The Audrey Heimler Special Projects Award (AHSPA) is an annual $10,000 grant that funds a project that focuses on the future of the genetic counseling profession and/or the provision of genetic services. Join us to celebrate this year's award winner. 

2:45 p.m. - 3:30 p.m.

Jane Engelberg Memorial Fellowship (JEMF) Presentation

Participants​: Flavia Facio, MS CGC; Sara Pirzadeh Miller MS, CGC; Lisa Schwartz, EdD, MS, CGC; Emily Brown, MGC, CGC

Session Summary:The Jane Engelberg Memorial Fellowship (JEMF), established in 1991 as a highly prestigious award of the National Society of Genetic Counselors, is an ongoing tribute to Jane Engelberg in the form of a $90,000 annual grant that funds scholarly investigation, promotes professional development and improves the practice of genetic counseling. Join us to celebrate this year's award winner. 

4:00 p.m. - 4:45 p.m.

Focus Abstracts

Participants​: Check back soon for more information.

Session Summary: Check back soon for more information.

4:45 p.m. - 5:30 p.m.

Plenary Session: Say My Name, Say My Name: It's Time to Discuss the Problem with the Name "Genetic Counselor"

Participants​: Chandler Means, MS, CGC; Antonina Wojcik, MS, CGC; Deanna Darnes, MS, LCGC; Brad Rolf, MS, CGC; Carla McGruder, MS, CGC

Session Summary: Healthcare providers, patients and family all ask the same question: What is a genetic counselor? While we have had educational content to evaluate how this problem is compacted by non-English speakers (No Soy Doctora/o... Soy Consejera/o Genetica/o, 2021 NSGC AC), we have yet to address that the problem of others understanding what we do starts with our name. This is echoed in lower uptake of GC referrals, especially amongst underrepresented populations. While logistics such as federal bill advocacy and branding are considerations for a measured revision, we should begin to openly consider how we are creating a barrier to access by putting the onus on laypeople to understand who we are instead of meeting them where they are. Learn more here

*Requires pre-registration