ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series
“Comprehensive Genomic Profiling in an Indeterminate Pediatric Tumor Guides Counseling and Therapeutic Strategies”
Date of Release: October 21, 2021
Expiration Date: October 21, 2024
Credits offered: CME
Estimate time of completion: 1 hour
Course must be completed by the expiration date
www.acmgeducation.net
Course Description
Dr. Catherine Cottrell, Dr. Kathleen Schieffer, and Kristin Zajo, CGC from Nationwide Children’s Hospital present “Comprehensive Genomic Profiling in an Indeterminate Pediatric Tumor Guides Counseling and Therapeutic Strategies” – a case of an adolescent female with a large retroperitoneal mass for which histopathology was inconclusive. Comprehensive genomic profiling, in tandem with expanded histopathologic testing, aided in refining the diagnosis and identifying targeted therapy. Translational studies encompassing paired tumor-normal exome sequencing and RNA sequencing further characterized the disease. The maternal family history was positive for breast cancer with negative gene panel testing. Results of genomic profiling identified a pathogenic variant in a cancer gene with emerging evidence of germline predisposition.
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:
- Describe the genomic testing methods used to determine clinical management.
- Explain how family history influenced the interpretation of genomic results.
- Discuss the importance of genetic counseling in the context of high throughput genomic cancer testing in this case.
Moderator:
Beth Pitel, M.S., CG(ASCP)CM
Senior Developer - Translational Research, Innovation, and Test Development, Laboratory Genetics and Genomics, Mayo Clinic
Assistant Professor, Department of Laboratory Medicine and Pathology, Mayo Clinic School of Medicine
Presenter(s):
Catherine Cottrell, PhD, FACMG
Senior Director, Institute for Genomic Medicine Clinical Laboratory at Nationwide Children’s Hospital
Associate Professor, Clinical in the Departments of Pathology and Pediatrics, The Ohio State University
Dr. Cottrell is dual certified by the American Board of Medical Genetics and Genomics in the specialties of Cytogenetics and Molecular Genetics having completed her fellowship training at The Ohio State University and Nationwide Children’s Hospital in Columbus, Ohio in 2010. Following the conclusion of her fellowship, Dr. Cottrell assumed a faculty position in 2011 at Washington University (WU) School of Medicine in Saint Louis, Missouri. In the six years she spent at WU, she ultimately served as the Director of the Cytogenetics and Molecular Pathology Laboratory, and as an Associate Professor in the Department of Pathology and Immunology, and Department of Genetics. Dr. Cottrell specializes in the clinical interpretation of complex genomic laboratory tests including constitutional and oncology chromosome analysis, FISH analysis, next-generation sequencing, Sanger sequencing, as well as chromosomal microarray analysis. She has an interest in the development of new clinical diagnostic assays, and a focus somatic variant interpretation and mosaicism in the setting of congenital disease. Her current clinical and research emphasis includes constitutional exome and genome sequencing, tumor somatic profiling, and the development of best practices in genetic variant interpretation. Dr. Cottrell joined as a faculty member within The Institute for Genomic Medicine at NCH in 2016.
Kathleen Schieffer, PhD
Clinical Laboratory Director, Institute for Genomic Medicine, Nationwide Children’s Hospital
Dr. Kathleen Schieffer received a B.S. in Medical Technology from the University of Delaware and a dual-title Ph.D. in Biomedical Sciences and Clinical and Translational Science from the Pennsylvania State College of Medicine. Her postgraduate work was focused on translational cancer genomic and transcriptomic analysis and interpretation, including development of a bioinformatic pipeline to evaluate RNA expression profiles. She recently completed an ABMGG Laboratory Genetics and Genomics Fellowship at Nationwide Children’s Hospital. Her academic interests include expanding the clinical utility of genomic profiling and improving the identification of complex structural rearrangements by NGS technologies.
Kristin Zajo, CGC
Certified Genetic Counselor, Division of Hematology, Oncology, and Bone Marrow Transplant, Nationwide Children’s Hospital.
Kristin has been a genetic counselor within the Division of Hematology, Oncology, and Bone Marrow Transplant at Nationwide Children's Hospital since 2015. She completed her genetic counseling training at Case Western Reserve University in Cleveland, Ohio. Kristin has a strong interest in hereditary polyposis and inherited cancer predisposition syndromes and works closely with the GI and Oncology teams to provide genetic risk assessment, counseling, and testing. She also sees patients with a wide range of benign hematologic conditions, including Sickle Cell Disease, Hemophilia, and Inherited Bone Marrow Failure.
Continuing Education Information
CME, Educational Credits
Accreditation
The American College of Medical Genetics 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.
Claiming your Educational Credits
Complete the activity, score 80% or better on the post-test, and carefully complete the evaluation form.
CME Policies and Procedures
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® Policies to ensure balance, independence, objectivity and scientific rigor. In accordance with the ACCME® Standards for Integrity and Independence in Accredited Continuing Education, everyone (speakers, moderators, platform presenters, presenting authors, 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 24 months that creates a real or apparent conflict of interest.
Individuals with potential for influence or control of CME content include:
- planners, planning committee members, staff
- submitters and first authors
- presenters, teachers
- educational activity directors
- educational partners
- others who participate, e.g. facilitators and moderators
This disclosure pertains to relationships with ACCME-defined Ineligible companies. (Definition of ineligible company: Those whose primary business is producing, marketing, selling, reselling, or distributing healthcare products used by or on patients.) Financial relationships are relevant if the following three conditions are met for the individual who will control content of the education:
- Financial relationship, in any amount, exists between the person in control of content and an ineligible company.
- The financial relationship existed during the past 24 months.
- The content of the education is related to the products of an ineligible company with whom the person has a financial relationship.
ACMG’s POLICY AND PROCEDURE FOR IDENTIFYING AND RESOLVING
CONFLICTS OF INTEREST FOR CME EDUCATIONAL ACTIVITIES
The ACCME® Standards for Integrity and Independence in Accredited Continuing Education describe five standards: (1) Ensure Content is Valid, (2) Prevent Commercial Bias and Marketing in Accredited Continuing Education, (3) Identify, Mitigate, and Disclose Relevant Financial Relationships, (4) Manage Commercial Support Appropriately, (5) Manage Ancillary Activities Offered in Conjunction with Accredited Continuing Education.
The Standards are designed to:
- Ensure that accredited continuing education serves the needs of patients and the public.
- Present learners with only accurate, balanced, scientifically justified recommendations.
- Assure healthcare professionals and teams that they can trust accredited continuing education to help them deliver safe, effective, cost-effective, compassionate care that is based on best practice and evidence.
- Create a clear, unbridgeable separation between accredited continuing education and marketing and sales.
The purpose of this policy is twofold: [1] Prevent Commercial Bias and Marketing in Accredited Continuing Education as required in Standard 2, and [2] Identify, Mitigate, and Disclose Relevant Financial Relationships required in Standard 3.
Regardless of role, disclosure forms for speakers, moderators, all presenting authors, program committee and staff participating in a CME activity will be collected and reviewed.
Content Validation and Fair Balance
1. ACMG follows the ACCME policy on Content Validation for CME activities, which requires:
a) 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.
b) 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.
2. 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.
3. 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.
HIPAA Compliance by Faculty
The American College of Medical Genetics and Genomics ("ACMG") supports medical information privacy. While the ACMG is not a "covered entity" under the Health Insurance Portability and Accountability Act of 1996 ("HIPAA") and its implementing regulations (the "HIPAA Privacy Rules") and, therefore, is not required to meet the standards set forth in the HIPAA Privacy Rules, ACMG takes reasonable steps to attempt to ensure that any presentation of individually-identifiable health information at ACMG-sponsored events has been properly authorized.
Each presenter must acknowledge and sign the Verification of HIPAA Authorization Form prior to the presentation.
Disclaimer
ACMG educational programs are designed primarily as an educational tool for healthcare providers who wish to increase their understanding of the application of genomic technologies to patient care. 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 or exclusive of other procedures and that are reasonably directed at obtaining the same results. In determining the propriety of any specific procedure or, a healthcare provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.
Questions regarding CE credit should be directed to education@acmg.net
Financial Disclosures
The following reported disclosures and none are relevant to the content of this course. All of the relevant financial relationships listed for these individuals have been mitigated.
Planning Committee and ACMG Staff*
The following have nothing to disclose.
Shruti Rao, MS, MBA (Planner)
Beth Pitel, MS, CG(ASCP) (Planner)
Gordana Raca, MD, PhD, FACMG (Planner, Moderator)
Alex Wagner, PhD (Planner)
Maximilian Muenke, MD, FACMG (ACMG CEO)
Jane Radford, MHA, CHCP (ACMG Director of Education)
Presenters have nothing to disclose:
Catherine Cottrell, PhD, FACMG
Kathleen Schieffer, PhD
Kristin Zajo, CGC