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ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series
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.
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Course Information

ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series

Tuesday, March 23, 2021

11:00am – 12:00 pm ET


Course Description

We are pleased to welcome Drs. Elaine Mardis, Daniel Boué, and Darren Klawinski from Nationwide Children’s Hospital, who will present a case study on Lynch Syndrome in the setting of a teenage male patient, presenting with high-grade glioma/astrocytoma (WHO grade IV).  Germline and somatic pathogenic PMS2 variants, a high tumor mutational burden, and elevated expression of several immune checkpoint genes were observed, aiding in the determination of clinical management.  Pathology-based evaluation of the tissue and molecular profiling results of DNA and RNA will be reviewed, along with a patient case history and challenges in variant interpretation.

Each presentation in the case series will feature an oncologist and clinical laboratory scientist as speakers. The oncologist will present the clinical case vignette and the clinical laboratory scientist will present the genomic data and interpretation.

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.

Learning Objectives

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

  1. Apply the clinical guidelines and bioinformatics tools to determine the clinical significance of germline and somatic variants in cancer
  2. Recognize clinical utility of cancer biomarkers
  3. Discuss cancer variant annotation and clinical interpretation pipelines at various institutions


Presentations followed by live Q&A.  


Gordana Raca, MD, PhD, FACMG 

Children’s Hospital of Los Angeles

Director, Clinical Cytogenomics Laboratory, Center for Personalized Medicine (CPM)

Associate Professor of Clinical Pathology, Keck School of Medicine of USC


Elaine Mardis, PhD
Nationwide Children's Hospital
Co-Executive Director of the Institute for Genomic Medicine

Elaine Mardis, PhD is co-Executive Director of the Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital and holds the Rasmussen Nationwide Foundation Endowed Chair of Genomic Medicine. She also is Professor of Pediatrics at The Ohio State University College of Medicine.  Educated at the University of Oklahoma with a B.S. in Zoology and a Ph.D. in Chemistry and Biochemistry, Dr. Mardis did postgraduate work in industry at BioRad Laboratories. She was a member of the faculty of Washington University School of Medicine from 1993-2016. Dr. Mardis has authored over 380 articles in peer-reviewed journals and has been listed since 2013 as one of the most highly cited researchers in the world by Thompson Reuters.  Dr. Mardis was given the Morton K. Schwartz award from the American Association for Clinical Chemistry in 2016 and the Heath Memorial Award from MD Anderson Cancer Center in 2020.  Dr. Mardis is the Immediate Past AACR President.  She was elected a Fellow of the AACR Academy, and was elected to membership in the National Academy of Medicine in 2019.



Daniel R. Boué, MD, PhD, FASCP, FCAP

Nationwide Children’s Hospital

Director of Neuropathology

Daniel R. Boué, MD, PhD, FASCP, FCAP is the director of Neuropathology at Nationwide Children’s Hospital and Associate Professor of Clinical Pathology at the Ohio State University.  Educated at Carleton College with a B.A. in Biology and the University of Minnesota with MD and PhD in Pathobiology.  Dr. Boué did his residency at University of California-San Diego and has worked at Nationwide Children’s Hospital since his fellowship in 1996.  Among vast accomplishments and accolades, Dr. Boué has been listed consistently as one of America’s Top Pathologists by the Consumers Research Council of America. He has collaborated with many researchers from the Children’s Oncology Group (COG), PNOC, PBTC, CNS tumor studies, and associated clinical trials.


Dr. Darren Klawinski, MD

Pediatric Neuro Oncology Fellow

Nationwide Children’s Hospital

Dr. Darren Klawinski MD is a Clinical Neuro Oncology Fellow at Nationwide Children’s Hospital. He completed medical school at the Florida State University College of Medicine and an internship and residency at University of Florida Pediatric Residency Program at Orlando Health followed by a pediatric Hematology/Oncology fellowship at the University of Florida College of Medicine Jacksonville. Dr. Klawinski has accepted a faculty position in neuro-oncology with the Nemours’ Children’s Health System at Nemours’ Children’s Specialty Care and Wolfson Children’s Hospital in Jacksonville, Florida that will begin in August 2021. 

Financial Disclosures

Disclosure Statement

 It is the policy of the American College of Medical Genetics and Genomics to plan and implement all of its educational activities in accordance with the ACCME Essentials and Areas and ACCME® Policies to ensure balance, independence, objectivity and scientific rigor. In accordance with the ACCME® Standards for Commercial Support, everyone (speakers, moderators, committee members and staff) who is in a position to control the content of an educational activity certified for AMA PRA Category 1 Credit™ is required to disclose all financial relationships with any commercial interests (see definition below) within the past 12 months that creates a real or apparent conflict of interest. Disclosure must include financial relationships of the individual and those of their spouse/partner. Individuals who do not disclose will be disqualified from participating in a CME activity.

This disclosure pertains to relationships with ACCME-defined commercial interests whose products or services may be related to the subject matter of the presentation topic. Any real or apparent conflicts of interest related to the content of the presentations must be managed prior to the educational activity. ACMG will identify, review and resolve all conflicts of interests prior to an educational activity being delivered to learners.


ACMG will follow the ACCME’s expectation that no employees or owners of commercial interests will be involved as planners/faculty/presenters of a CME accredited activity.

The ACCME definition of a commercial interest is any entity producing, marketing, re-selling, or distributing health care goods or services consumed by, or used on, patients.

The ACCME does not consider providers of clinical service directly to patients to be commercial interests - unless the provider of clinical service is owned, or controlled by, an ACCME-defined commercial interest.

Diagnostic laboratories are not considered commercial interests unless they are owned by or have a sister organization which is a commercial interest.

Planning Committee and ACMG Staff*

The following have nothing to disclose.

Shruti Rao, MS, MBA

Beth Pitel, MS, CG (ASCP)

Gordana Raca, MD, PhD, FACMG
Alex Wagner, PhD
*Maximilian Muenke, MD, FACMG
*Jane Radford, MHA, CHCP

Presenters Disclosure

Elaine Mardis, PhD

Dr. Mardis has disclosed that she is a consult for Kiadis Pharmaceuticals NV, PACT Pharma LLC, Interpreta LLC; has major stockholder/ownership interest in Qiagen NV; and is part of the board of directors/supervisory board of Qiagen NV.

Daniel R. Boué, MD, PhD, FASCP, FCAP

Nothing to Disclose

Dr. Darren Klawinski, MD

Nothing to Disclose



Educational Credit


Accreditation Statement

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.


Designation Statement

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



Claiming your Educational Credits

Complete the activity and carefully complete the evaluation form. Deadline to claim educational credits is within 30 days from the date of the webinar. ACMG will not accept any credit request for live meetings after that period.


HIPAA Compliance

The ACMG supports medical information privacy.  While the ACMG is not a “covered entity” under HIPAA 1996 and therefore is not required to meet these standards, ACMG wishes to take reasonable steps to ensure that the presentation of individually identifiable health information at ACMG-sponsored events has been properly authorized.  All presenters have completed a form indicating whether they intend to present any form of individually identifiable healthcare information.  If so, they were asked either to attest that a HIPAA-compliant consent form is on file at their institution, or to send ACMG a copy of the ACMG HIPAA compliance form. This information is on record at the ACMG Administrative Office and will be made available on request.


Content Validation

ACMG follows the ACCME policy on Content Validation for CME activities, which requires:


Content Validation and Fair Balance

  1. ACMG follows the ACCME policy on Content Validation for CME activities, which requires:
  1. All recommendations involving clinical medicine must be based on evidence that is accepted within the profession of medicine as adequate justification for their indications and contraindications in the care of patients.
  2. All scientific research referred to, reported or used in CME in support or justification of patient care recommendations must conform to the generally accepted standards of experimental design, data collection and analysis.


  1. Activities that fall outside the definition of CME/CE; “Educational activities that serve to maintain, develop, or increase the knowledge, skills, and professional performance and relationships that a physician uses to provide services for patients, the public, or the profession” (source: ACCME and AMA) will not be certified for credit. CME activities that promote recommendations, treatment, or manners of practicing medicine or pharmacy that are not within the definition of CME/CE or, are known to have risks or dangers that outweigh the benefits or, are known to be ineffective in the treatment of patients.
  2. Presentations and CME/CE activity materials must give a balanced view of therapeutic options; use of generic names will contribute to this impartiality.  If the CME/CE educational materials or content includes trade names, where available, trade names from several companies must be used.


Off-label Uses of Products

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.



The ACMG does not endorse, or recommend the use of this educational program to make patient diagnoses, particular by individuals not trained in medical genetics. Adherence to the information provided in these programs does not necessarily ensure a successful diagnostic outcome. The program should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed at obtaining the same results. In determining the propriety of any specific procedure or test, a healthcare provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.


Availability: Retired
Cost: FREE
Credit Offered:
No Credit Offered

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