Session Description

Recurrent deletions of chromosome sub-band 22q11.2 are estimated to occur as frequently as 1 in 3,000-6,000 live births and 1 in 1,000 unselected fetuses (those without congenital heart disease or palatal anomalies). Chromosome 22q11.2 deletions result in a syndrome that is associated with a broad range of phenotypic features including congenital heart disease, palatal abnormalities, gastrointestinal differences, skeletal anomalies, immune dysfunction, endocrinopathies, cognitive deficits and behavioral problems/psychiatric illness. This webinar will review the clinical presentation of 22q11.2 deletion syndrome in diverse populations. Additionally, it will explore the use of massively parallel sequencing technologies to uncover Mendelian modifiers of this common genomic disorder. 

Learning Objectives

At the conclusion of the series, participants should be able to:

1. Describe the clinical utility of whole exome/whole genome sequencing tests
2. Identify clinical indications for whole exome/whole genome sequencing
3. List determinants used to assess the probability of a variant’s pathogenicity
4. Elaborate on the importance of pre-test counseling and consent

Session Learning Objectives

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

1. Identify the clinical presentation of 22q11.2 deletion syndrome.
2. Recognize the craniofacial features of 22q11.2 deletion syndrome in diverse populations.
3. Review the clinical utility of massively parallel sequencing to define Mendelian genetic modifiers of classic genomic disorders.
4. Discuss the psychosocial impact of uncovering additional genetic diagnoses on patients and their caregivers.

 Faculty:

Donna M. McDonald-McGinn, MS, LCGC

Clinical Professor of Pediatrics, Perelman School of Medicine of the University of Pennsylvania

Director, 22q and You Center, Chief, Section of Genetic Counseling, Associate Director, Clinical Genetics Center, The Children’s Hospital of Philadelphia

Ian Campbell, MD, PhD

Chief Genetics Resident, The Children’s Hospital of Philadelphia

Beata Nowakowska, PhD

Director of Cytogenetics, The Institute of Mother and Child Warsaw, Poland

Educational Credits are not offered

Target Audience

1. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
2. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Off-label Drug Use statement

When an off-label use of a product, or an investigational use not yet approved for any purpose, is discussed during an educational activity, the accredited sponsor shall require the speaker to disclose that the product is not labeled for the use under discussion, or that the product is still investigational. Discussions of such uses shall focus on those uses that have been subject of objective investigation.

Disclosures of Financial Relationships

Staff - American College of Medical Genetics and Genomics

The following have nothing to disclose.

Jane Radford, MHA, CHCP

Claudia Barnett

Maximilian Muenke, MD, FACMG

 Presenter Disclosures 

Donna M. McDonald-McGinn, MS, LCGC

Clinical Professor of Pediatrics, Perelman School of Medicine of the University of Pennsylvania

Director, 22q and You Center, Chief, Section of Genetic Counseling, Associate Director, Clinical Genetics Center, The Children’s Hospital of Philadelphia

Has no relevant financial relationships to disclose.

Ian Campbell, MD, PhD

Chief Genetics Resident, The Children’s Hospital of Philadelphia

Has no relevant financial relationships to disclose.

Beata Nowakowska, PhD

Director of Cytogenetics, The Institute of Mother and Child Warsaw, Poland

Has no relevant financial relationships to disclose