Hemoglobinopathies: It’s all Greek to Me
Cathy Franklin, M.S., LCGC

This presentation will discuss the basic fundamentals of hemoglobinopathies including genetics, inheritance patterns, interpretation of lab results and classifications of types. The presentation will share several clinical cases to illustrate the complexity of understanding and counseling for these conditions.  

Learning Objectives:

1. Classify hemoglobinopathies and the various types.
2. Examine how to evaluate clinical and laboratory findings associated with specific hemoglobinopathies, including complex clinical case presentations.
3. Summarize approaches to formulate strategies to navigate the complexities.

Optical Genome Mapping: Advancing Genomic Analysis
Stephen Wicks, PhD, FACMG, MB(ASCP)CMCGCM

Optical Genome Mapping (OGM) is an emerging technology that enables high-resolution detection of structural variants. This presentation will explore the principles behind OGM, its advantages over traditional cytogenetic techniques, and its clinical applications. Attendees will gain insights into how OGM enhances the detection of genomic abnormalities and its potential impact on clinical care.

Learning Objectives

1. Examine the principles and methodology of OGM and compare it to other genomic analysis techniques.
2. Evaluate the clinical applications of OGM in detecting structural variants and its implications for genetic testing and diagnosis.
3. Apply knowledge of OGM to case scenarios to determine its utility in genomic analysis and clinical management.

Assessing the Diagnostic Yield and Utility of Genetic Testing in Childhood Onset Unilateral Hearing Loss (UHL)
Olivia Isaacks, BS

While genetic testing in hearing loss (HL) is widely accepted, understanding the application in unilateral hearing loss (UHL) is less well understood in standardized practice. This presentation will provide details from our recent mixed methods study assessing what the genetic testing diagnostic yield is for children with UHL at Children’s Hospital Colorado (CHCO). The focus of the talk will go over these four main categories: diagnostic yield of genetic testing compared to that of MRI testing, facilitators and barriers of genetic testing for UHL, survey results of parents of children with UHL evaluating their experiences with genetic counseling and genetic testing, and financial concerns posed by individuals/families offered genetic testing for UHL.

Learning Objectives:

1. Evaluate the utility of genetic testing by comparing the diagnostic yield of genetic testing to the diagnostic yield of MRI testing for childhood onset unilateral hearing loss
2. Identify parents’ perceptions of genetic counseling services and genetic testing for their child(ren) with unilateral hearing loss.
3. Summarize the data this project discovered for barriers and facilitators of genetic testing in individuals with unilateral hearing loss (UHL) diagnosed before the age of 18.

AI and Deep Learning in Clinical Genetics and Genomics
Dr. Ben Solomon

AI is rapidly changing many aspects of life, including healthcare and biomedical research. This talk will explain the basics of AI and provide examples of how AI is being used in clinical genetics and genomics, including related to research applications. The talk will also explore how AI is anticipated to continue to change the field of genetics and genomics.

Learning Objectives:

1. Define the main types of AI.
2. Examine examples of how AI is used in clinical genetics and genomics.
3. Evaluate how AI may impact the field in the future.

Advancing Genetic Testing and Therapeutics in Danon Disease: Rocket Pharma’s Mission and Pipeline
Dr. Susan Manganaro

This presentation will provide an in-depth look at Danon disease, a rare X-linked disorder with significant implications for genetic counseling, clinical care, and therapeutic development. We will explore Rocket Pharma’s gene therapy pipeline, including Phase 1 data, Phase 2 and natural history study design, and the broader implications for patient care. Additionally, the talk will highlight sex-linked differences in clinical presentation, the patient journey from diagnosis to treatment, and the importance of cascade genetic testing along with Rocket Pharma’s sponsored genetic testing initiative. Attendees will gain a deeper understanding of the evolving landscape of Danon disease research and its’ impact on genetic counseling practices.

Learning Objectives:

1. Differentiate the clinical presentation of Danon disease in males and females and understand the implications for genetic counseling.
2. Explain Rocket Pharma’s gene therapy approach, including key findings from Phase 1 and the design of the Phase 2/NHS study.
3. Describe the role of cascade genetic testing in Danon disease and how Mission: Genome facilitates early diagnosis and family screening.

Medical Biases and Misconceptions Impact Diagnoses in Males with Loss of Function MECP2 Variants
Talia Thompson, PhD

Rett syndrome (RTT) is a rare neurodevelopmental disorder typically caused by loss-of-function variants in the transcriptional regulator methyl-CpG binding protein-2 (MECP2) gene. These variants were historically believed to be incompatible with life in males, however, recent advances in genetic testing have revealed significant clinical heterogeneity. This presentation will inform genetic counselors about our most current understanding of the male RTT phenotype. We will also explore ongoing caregiver challenges related to persistent medical biases and misconceptions and implications for genetic counseling.

Learning Objectives:

1. Identify variations in the medical and developmental outcomes in males with loss of function MECP2 mutations.
2. Summarize the lived experiences of parents receiving a male RTT diagnosis for their child and implications for genetic counseling.

Glass Children: Understanding and Supporting Siblings of Individuals with Rare Diseases
Abby Turnwald, MS CGC

Siblings, often called "Glass Children," are deeply affected by having a brother or sister with a rare disease. They may face a lack of clear answers regarding the diagnosis, treatment options, and future care, which can lead to confusion or misunderstandings. Without proper information, these gaps in knowledge can leave siblings feeling isolated or anxious. Genetic counselors can play a crucial role by providing resources, facilitating open conversations with parents, and addressing the emotional and informational needs of siblings to help them better understand the situation.

Learning Objectives:

1. Explain various ways in how a rare disease can impact siblings.
2. Identify different resources available to support siblings.

Interesting Cases and Dilemmas
Moderator/Speaker: Susan Howell, MS, CGC, MBA

The session will be an interactive session which will allow genetics professionals to present cases of rare knowns and unknowns. These will include cases that are rare knowns of diagnosed malformations, genetic syndromes, or potential genetic syndromes. The rare knowns presentation may be of assistance to others in practice. The session will also provide an opportunity for individuals to present cases of unknowns for assistance with management suggestions or potential diagnoses. It will also be a time to illustrate the need for a multidisciplinary approach and communication for optimal care of patients and families. Additionally, this provides a forum to discuss cases of genetic disorders and management options.

Learning Objectives:

1. Reproduce a case presentation from chief complaint to diagnosis.
2. Design a differential diagnosis.
3. Examine diagnostic workup suggested by experts.
4. Illustrate clinical features of rare cases.