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ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series

Tuesday, January 25, 2022

11:00 am-12:00 pm ET

www.acmgeducation.net

Course Description

In this session, Drs. Janessa Laskin and Laura Williamson will present a case of a 64-year-old female diagnosed with metastatic lung neuroendocrine carcinoma. She had been treated with chemotherapy and radiation, with some response but subsequent growth in multiple locations. Whole genome and transcriptome analysis of a metastatic chest wall mass was performed as part of the Personalized OncoGenomics Study. Molecular analysis revealed no targetable driver mutations and low tumour mutation burden, but gene expression signatures provided evidence for T cells and macrophages in the tumour sample. The combination of biomarkers made this patient eligible for an immunotherapy trial. An additional case with similar gene expression signatures, a pediatric chordoma patient found to have low tumour mutation burden but high tumour T cell infiltration, subsequently responded to immunotherapy. The use of whole genome and transcriptome profiling to examine the immune microenvironment and biomarkers for immunotherapy response will be reviewed. The design of an immunotherapy trial based on both DNA and RNA molecular markers will be discussed.

The Variant Interpretation for Cancer Consortium Virtual Molecular Tumor Board (VICC VMTB) is conducting a survey on somatic NGS reporting practices.  If you are involved in reporting NGS results, we want to hear from you. You can find the survey here.

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 and VICC consortia, and ACMG.

Agenda

Presentation followed by Q&A. 

Learning Objectives

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

1. Describe the genomic methods used to care for this patient
2. Discuss the nature of biomarkers that confer sensitivity to immunotherapy
3. Explain the of role T cell infiltration in the absence of high tumor mutational burden

Faculty:

Janessa Laskin, MD

Medical Oncologist at the British Columbia Cancer Agency

Clinical Associate Professor of Medical Oncology at the University of British Columbia

Dr. Laskin is a clinical Associate Professor in the Department of Medicine at the University of British Columbia and an active member of the medical oncology staff at BC Cancer Agency in Vancouver, Canada. Her clinical and research interests have primarily focused on lung and head and neck cancers. She is an active member of many national and international lung cancer trials and advisory groups. In the last decade her research has evolved towards cancer genomics and personalized medicine and she is the clinical program leader for the Personalized OncoGenomics (POG) Program which is a collaborative research project between medical oncologists and Michael Smith Genome Sciences Centre in Vancouver. The POG program is truly translational research effort that uses in-depth genomic and transcriptome sequencing to guide chemotherapy decision-making in a clinically relevant time-frame.

Laura Williamson, PhD

Clinical Informatics Team Lead at Michael Smith Genome Sciences Centre

Dr. Laura Williamson is Clinical Informatics Team Lead at Michael Smith Genome Sciences Centre in Vancouver, Canada. In this role, she leads genome analysts that coalesce and interpret data generated from high throughput bioinformatic analyses of patient tumor sequencing data, in particular for BC Cancer Personalized OncoGenomics (POG) program, the Terry Fox Research Institute Precision Oncology for Young People (PROFYLE) project and Prospectively Defining Metastatic Pancreatic Ductal Adenocarcinoma Subtypes by Comprehensive Genomic Analysis (PanGen) study. The Clinical Informatics team also supports bioinformatics groups in the development and implementation of methods of integrative analysis and collaborates with clinicians to promote knowledge translation.

Planning Commitee:

Beth Pitel, MS, CG(ASCP)
Gordana Raca, MD, PhD, FACMG
Alex Wagner, PhD
Maximilian Muenke, MD, FACMG
Manuela Benary, PhD
Jane Radford, MHA, CHCP

CME Educational Credits:

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 AMA PRA Category 1 Credit™. 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. The deadline to claim educational credits is within 30 days from the date of the activity. Educational credit requests after this date will not be accepted.

 Disclosure Policy

 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 requires that all ACE activities are scientifically based, accurate, current, and objectively presented. All recommendations for patient care must be based on current science, evidence, and clinical reasoning, while giving a fair and balanced view of diagnostic and therapeutic options. All scientific research referred to, reported, or used in accredited education in support or justification of a patient care recommendation must conform to the generally accepted standards of experimental design, data collection, analysis, and interpretation. Education may not advocate for, or promote, practices that are not, or not yet adequately based on current science, evidence, and clinical reasoning, such as new and evolving topics.

ACMG is committed to provide accredited continuing medical education that offer healthcare professionals with a protected space to learn, teach, and engage in scientific discourse free of the influence from organizations that may have an incentive to insert commercial bias into the education. Education must be free of the influence or control of ineligible entities, and protect learners from promotion, marketing, and commercial bias. Presentation materials may not include logos or product messaging from ineligible companies and shall use generic names, rather than trade names, when referencing pharmaceutical or medical device products. Owners and employees of ineligible companies are considered to have unresolvable financial relationships and shall have no role in accredited continuing education.

Financial relationships held with ineligible companies have the potential to influence and create bias in the content of accredited education. Ineligible companies are defined as those whose primary business is producing, marketing, selling, re-selling, or distributing healthcare products used by or on patients. Financial relationships are defined as any relationship held with an ineligible company within the prior 24 months, regardless of the amount and whether relevant to the education. Examples of such relationships include employee, researcher, consultant, advisor, speaker, independent contractor (including contracted research), royalties or patient beneficiary, executive role, ownership interest, individual stock and stock options, institutional research funding if principal or named investigator.

 ACMG education and designated content experts without any relevant conflicts will identify and review all financial relationships held by planners, faculty, and others who would be in position to control the content of accredited education, and determine which relationships are relevant. Relevant financial relationships will be mitigated prior to individuals assuming their roles in the activity. Persons who fail or refuse to disclose all financial relationships, or do not cooperate with mitigation strategies implemented, will be disqualified. Relevant financial relationships will be disclosed to learners prior to their engagement with the accredited education and include information about the names of ineligible companies and nature of relationships. All activities will be evaluated to determine if the content was free of commercial bias and met acceptable scientific standards.

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.

Content Validation Policy

The ACMG is responsible for ensuring that all Accredited Continuing Education (ACE) is fair balanced and that any clinical content presented supports safe, effective patient care

This is accomplished by:

1. All recommendations for patient care in accredited continuing education must be based on current science, evidence, and clinical reasoning, while giving a fair and balanced view of diagnostic and therapeutic options.
2. All scientific research referred to, reported, or used in ACE is in support or justification of a patient care recommendation must conform to the generally accepted standards of experimental design, data collection, analysis, and interpretation.
3. Although ACE is an appropriate place to discuss, debate, and explore new and evolving topics, these areas need to be clearly identified as such within the program and individual presentations. It is the responsibility of accredited providers to facilitate engagement with these topics without advocating for, or promoting, practices that are not, or not yet, adequately based on current science, evidence, and clinical reasoning.
4. ACMG requests activity faculty/presenters to disclose to learners any description of unlabeled use or investigational use of pharmaceutical/device products. Faculty must use scientific or generic names (not trade names) in referring to products; and, if necessary, when using a trade name, to use the names of similar products or those within a class.
5. ACMG ACE activities cannot advocate for unscientific approaches to diagnosis or therapy, or if their education promotes recommendations, treatment, or manners of practicing healthcare that are determined to have risks or dangers that outweigh the benefits or are known to be ineffective in the treatment of patients.

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 ACMG requires 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.

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.

Disclaimer

ACMG educational programs are designed primarily as an educational tool for health care 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