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

Date of Release: July 2, 20024
Expiration Date:  July 2, 20026
Credits offered: CME
Estimate time of completion: 1 hour per webinar
Course must be completed by the expiration date
www.acmgeducation.net

Description:

Explore an insightful panel discussion on carrier screening for Duchenne Muscular Dystrophy (DMD) and its impact on reproductive decision-making. 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, delve into the latest DMD genotype research, trends in variant pathogenicity, and real-world cases in this on-demand 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.

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:

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.

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.

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.

Accredited Continuing Education Information:
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 enduring 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
This activity consists of: View content, take a post-test, the test may be taken as often as necessary to achieve a passing score of 80% or better is required to receive credit.  If you do not achieve a passing score, the program will identify which questions you answered incorrectly so that you can review the module and try again. Complete the evaluation form.

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.

Technical Support:
You can reach us by email at education@acmg.net or call 301-718-9603.
Support Center Hours: Monday – Friday, 9:00 AM – 5:00 PM Eastern Time.

Accredited Continuing Education Financial Disclosure

The American College of Medical Genetics and Genomics (ACMG) is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide Accredited Continuing Education (ACE) for physicians. ACMG is an organization committed to improvement of patient care and general health by the incorporation of genetics and genomics into clinical practice.

ACMG has implemented the following procedures to ensure the independence of ACE activities from commercial influence/promotional bias, the Accreditation Council for Continuing Medical Education (ACCME) requires that providers (ACMG) must be able to demonstrate that: 1) everyone in a position to control the content of an ACE activity has disclosed all financial relationships that they have had in the past 24 months with ineligible* companies; 2) ACMG has implemented a mechanism to mitigate relevant financial relationships; and 3) all relevant financial relationships with ineligible companies are disclosed to the learners before the beginning of the educational activity. The learners must also be informed if no relevant financial relationships exist.
*Ineligible companies are defined as those whose primary business is producing, marketing, selling, re-selling, or distributing healthcare products used by or on patients.

ACMG Education Policies

Please review the policies below regarding the ACMG Education program

• Financial Disclosures and Mitigation Procedure
• ACMG Content Validation Policy
• ACMG Content Branding Policy

All of the relevant financial relationships listed for these individuals have been mitigated.

Questions regarding CE credit should be directed to education@acmg.net