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ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series
Tuesday, September 28th
11:00am-12:00pm ET
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.
Agenda
Presentations followed by live Q&A.
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.
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.
NOTE:
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.
Beth Pitel, MS, CG(ASCP) (Moderator)
Gordana Raca, MD, PhD, FACMG
Alex Wagner, PhD
*Maximilian Muenke, MD, FACMG
*Jane Radford, MHA, CHCP
Presenters have nothing to disclose:
Catherine Cottrell, PhD, FACMG
Kathleen Schieffer, PhD
Kristin Zajo, CGC
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 Credits™. 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
- ACMG follows the ACCME policy on Content Validation for CME activities, which requires:
- 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.
- 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.
- 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.
- 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.
Disclaimer
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.