Classification Investigation - Examining Pathogenicity of DMD Variants Detected on Carrier Screening
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Availability
Registration ends on October 15, 2024
Expires on 11/15/2024
Online Meeting
Oct 15, 2024 2:00 PM - 3:00 PM EST
Cost
$0.00
Credit Offered
1 CME (AMA) Credit
1 CME (Other) Credit

Classification Investigation - Examining Pathogenicity of DMD Variants Detected on Carrier Screening

 

Tuesday, October 15, 2024| 2:00pm-3:00pm ET

 

Description:

Join us for an insightful panel on carrier screening for Duchenne Muscular Dystrophy (DMD) and its implications for reproductive decisions. Expert speakers from Baylor College of Medicine and Parent Project Muscular Dystrophy, including Ms. Blake Vuocolo, MS, CGC, Mrs. Kayla Banks, MS, CGC and Ms. Sandra Darilek, MS, CGC will explore the latest DMD genotype research, trends in variant pathogenicity, and real-world cases. Don’t miss this essential session!

 

Target Audience: The target audience for this session is all genetic healthcare providers, researchers, and students at all levels of training. This session will especially appeal to genetics providers who practice prenatal and reproductive genetics medicine. Genetic counselors will benefit from the psychosocial aspects of discrepant carrier screen results. Additionally, this topic will be of interest to OBGYNs, MFMs, and other health care professionals that order or interpret carrier screening for their patients.

 

Agenda: Presentation followed by live Q&A. 

 

Topic

Presentation

Presenter

Welcome and Introduction

 

Blake Vuocolo, MS, CGC

Case study highlighting unexpected Duchenne Muscular Dystrophy carrier screening results.

Navigating the Unexpected: Perspectives of carrier screening results from a personal and professional lens

Blake Vuocolo, MS, CGC

Discussion of findings from The Duchenne Registry and cases identified through a sponsored genetic testing program

The spectrum of dystrophinopathies – What we know, and what we are still learning

Kayla Banks, MS, CGC

Current carrier screening practices, implications of carrier screening results and nuances of carrier screening

When did this become complicated?

An overview of current carrier screening

Sandra Darilek, MS, CGC

Practice implications for DMD testing

Where do we go from here? Practice recommendations for DMD carrier screening

Blake Vuocolo, MS, CGC

 

Learning Objectives

 

At the conclusion of this session, participants should be able to:

  1. Describe the current knowledge of Duchenne Muscular Dystrophy and common variants.
  2. Discuss PPMD’s registry and testing program, highlighting cases of familial testing with unexpected results.
  3. Review carrier screening practices and implications of carrier screen results in reproductive genetics
  4. Describe the emotional aspects of decision-making based on carrier screen results.

Moderator:

Blake Vuocolo, MS, CGC

Certified Genetic Counselor

Baylor College of Medicine

Presenters:

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Blake Vuocolo, MS, CGC

Certified Genetic Counselor

Baylor College of Medicine

Blake Vuocolo is a certified research genetic counselor in the Department of Molecular and Human Genetics at Baylor College of Medicine in Houston, Texas.  She graduated from the Baylor College of Medicine genetic counseling program in 2022, where she completed her thesis work on exploring families' experiences with accessing follow-up hereditary cancer care in underserved pediatric populations through the KidsCanSeq study. Her current work is similarly focused on improving genomic care for medically underserved and underrepresented patient populations with rare disease throughout Texas. She serves as the genetic counselor for the Texome Project, which offers exome sequencing to children and adults who have financial barriers to obtaining clinical testing. Additionally, she is involved with Project GIVE, a research study that offers virtual genetic evaluation and whole genome sequencing to children in the Rio Grande Valley along the Texas-Mexico border, which lacks adequate access to genomic services. Her areas of interest include understanding genomic access barriers, implementing technology to improve provider understanding of genetics, and making genomic services accessible worldwide in a sustainable and culturally sensitive way.

 

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Kayla Banks, MS, CGC

Community Research Project Director

Parent Project Muscular Dystrophy

Kayla Banks is a board-certified genetic counselor working in the advocacy space as Director of Community Research and Genetic Services with Parent Project Muscular Dystrophy (PPMD). In her role at PPMD, Kayla manages a sponsored genetic testing program designed to provide access for individuals and families affected by dystrophinopathy. Additionally, she assists in the curation of The Duchenne Registry, a patient report database for Duchenne, Becker, and carriers. Kayla and her colleagues on PPMD’s genetics and registry team provide support to families and providers in the form of education regarding DMD variants, genotype/phenotype correlations, and therapeutic approaches. Kayla has a special interest in DMD variants with “mild” or variable phenotypes, and variant interpretation in the absence of family history or a symptomatic individual.



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Sandra Darilek, MS, CGC

Certified Genetic Counselor, Associate Professor

Baylor College of Medicine

 

Sandra Darilek is a board-certified and licensed genetic counselor who has worked in reproductive genetics for over 20 years.  She is an Associate Professor in the Department of Molecular and Human Genetics and Obstetrics and Gynecology at Baylor College of Medicine.  Ms. Darilek is co-manager of the Prenatal Genetic Counseling Service at Baylor College of Medicine and Texas Children’s Hospital and is chief of the Baylor College of Medicine Consultagene Clinic.  She specializes in providing reproductive genetic counseling for patients seeking preconception, prenatal, fertility and preimplantation genetic testing.  In addition to her clinical responsibilities, Ms. Darilek is actively involved in the training and supervision of genetic counseling students at Baylor College of Medicine as well providing lectures for several other genetic counseling programs.  She is also involved in the training of MFM, REI and medical genetics fellows at Baylor College of Medicine and Texas Children’s Hospital.  She has served on the Board of Directors for the National Society of Genetic Counselors and Texas Society of Genetic Counselors and is also involved in the American College of Medical Genetics and Genomics and American Society of Reproductive Medicine.  She is passionate about patient access to reproductive healthcare and genetic counseling. 

 

Continuing Medical Education (CME AMA & CME Other)

 

Accreditation

The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

 

Credit Designation

The American College of Medical Genetics and Genomics designates this live activity for a maximum of 1.0 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

 

The American Medical Association (AMA) defines physicians as those individuals who have obtained an MD, DO, or equivalent medical degree from another country. Non-physicians may request a certificate of attendance for their participation.

 

Claiming your Educational Credits

Complete the activity and carefully complete the evaluation form. The deadline to claim educational credits is within 30 days of the date of the activity. Educational credit requests after this date will not be accepted.

 

Learner Data Consent

ACMG Education reports learner data to respective agency boards and you will be asked for consent during the evaluation process. Your compliance with deadlines and completing evaluations are part of the process in meeting learner needs and ACMG’s education mission.

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