Title: Interesting Cases from the Molecular Characterization Initiative (MCI)

Description

The unified goal of NCI’s Molecular Characterization Initiative in childhood cancers is to combine DNA analysis in terms of sequence variation, mutational signature, and copy number, RNA analysis for structural variant detection, as well as DNA methylation arrays to inform the epigenetics of these tumors.  The information will aid in refining tumor diagnoses, defining therapeutic targets and predicting treatment toxicity with the goal of enabling precision medicine and improved patient outcomes.  In addition, information from molecular profiling can inform family screening and surveillance from germline testing results.  We will discuss participation in MCI as well as laboratory testing workflows and lessons learned.

Target Audience

All medical and healthcare professionals and researchers interested in understanding cancer genomic testing and somatic and germline variant interpretation methods. This series is presented as a collaboration between ClinGen Somatic, VICC, and ACMG consortia.

Agenda

Presentation followed by live Q&A.

Learning Objectives

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

1. State the objectives of NCI’s Molecular Characterization Initiative (MCI).
2. Summarize the laboratory workflow and result interpretation for MCI samples.
3. Discuss interesting cases and lessons learned.

Moderator:

Jason Saliba, PhD

Senior Scientist at Washington University School of Medicine in St. Louis

Presenters:

Yassmine Akkari, PhD, FACMG

Professor, Department of Pathology, The Ohio State University,

Columbus, OH

Senior Director, Clinical Laboratory, Institute for Genomic Medicine,

Nationwide Children’s Hospital, Columbus, OH

Yassmine Akkari, PhD, is a Senior Director within the Institute for Genomic Medicine at Nationwide Children’s Hospital and a Professor of Pathology at the Ohio State University College of Medicine.  She is triple certified by the American Board of Medical Genetics and Genomics in the specialties of Clinical Cytogenetics, Clinical Molecular Genetics and PhD Medical Genetics.  She earned her Bachelor of Sciences degree in Biology from the American University of Beirut and her PhD in Molecular Genetics at The Ohio State University.  Following her postdoctoral research on Fanconi anemia and clinical training at the Oregon Health & Sciences University (OHSU), she joined Legacy Health (LH) in Portland, Oregon as the Scientific director of Cytogenetics and Molecular Pathology and recently moved to her position at Nationwide Children’s Hospital.

Dr. Akkari has served as the President of the Cancer Genomics Consortium (CGC), the Vice Chair of the CAP/ACMG Cytogenetics resource Committee, and the Chair of the Association of Molecular Pathology (AMP) Training and Education Committee.  Currently, she is an Expert Member of the WHO Blue Books for hematopoietic and lymphoid tissues and genetic tumor syndromes, the Chair of AMP’s Program Committee, and is a member of the Children’s Oncology Group Cytogenetics Committee and the ACMG Laboratory Quality Assurance Committee. 

She is interested in all aspects of genomics as it pertains to disease diagnostics and therapy.  This includes test development and clinical validations particularly in the setting of prenatal and postnatal genetics, pediatric hematologic disease, CNS tumors and genetic predisposition syndromes.

Mariam Thomas Mathew, PhD, FACMG

Assistant Professor (Clinical), Ohio State University College of Medicine, Departments of Pathology and Pediatrics

Director, Clinical Laboratory, Institute for Genomic Medicine,

Nationwide Children’s Hospital, Columbus, OH

Mariam Mathew, PhD, FACMG, is a clinical director within the Institute for Genomic Medicine. She received her PhD at the University of Toronto, Canada where she focused on variant fusions in acute promyelocytic leukemia. Her interest in clinical diagnostics expanded through the course of her post-doctoral work at the University Health Network - Advanced Molecular Diagnostics Laboratory in Toronto, where she led the analytical validation and implementation process for a targeted Next Generation Sequencing panel for hematological malignancies, and contributed to designing a variant classification system directed at interpreting somatic variant profiles. In 2019, Dr. Mathew completed an ABMGG Laboratory Genetics and Genomics fellowship at the University of Chicago. Her interests focus on the application of cytogenetic and molecular techniques to understand the genetic basis of hereditary and acquired disease.

Planning Committee:

Beth Pitel, MS, CG(ASCP)

Gordana Raca, MD, PhD, FACMG

Manuela Benary, PhD

Jason Saliba, PhD

Jane Radford, MHA, CHCP

Claudia Barnett 

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.

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.