Featuring the 2020 Digital Edition of Genetic Counselors Luncheon and Forum: Requesting and Working with Raw Genomic Data
Date of Release: December 22, 2020
CME expiration date: December 22, 2023
Estimate time of completion: 1 hour
Course must be completed by the expiration date
www.acmgeducation.net
Session Description
Requests for laboratories to provide patients and/or providers access to raw genomic data represents a growing trend in exploratory genomic testing. This session is intended to orient and empower genetic counselors to actively participate in the request and evaluation of their patients’ genomic data. There is currently no consensus for best practices related to requesting and returning raw data, and there is also active debate regarding the accuracy and utility of such data when used outside of the laboratory expert quality and interpretive framework (Thorogood et al., 2018). Regardless, it is clear that patients have a desire to access and further explore their data, and laboratories are frequently accommodating these requests (Middleton et al., 2015; Shabani et al., 2018). Many providers have expressed that they are not adequately prepared to address questions and concerns that their patients may have about self-directed findings, and they desire more orientation and exposure to the tools their patients may be accessing. Additionally, a growing number of providers pursue raw data requests themselves in order to participate more directly in the diagnostic exploration and research follow up of their cases.
Attendees of this will be introduced to the raw data request process, the various types of files that are frequently provided by laboratories, and the publicly available tools for visualizing and analyzing raw data.
Agenda
Target Audience
Learning Objectives
At the conclusion of the series, participants should be able to:
Presenters
Cherisse A. Marcou, PhD
Co-director of the Clinical Cytogenetics Laboratory at the Mayo Clinic
Marissa Ellingson, MS, CGCGenetic Counselor, Mayo Clinic
Casie A. Genetti, MS, CGC
Genetic Counselor, Boston Children's Hospital
Jesse R. Walsh, PhD
Informatics Specialist, Mayo Clinic
Matthew Lebo, PhD, FACMG
Chief Laboratory Director of the Laboratory for Molecular Medicine, Partners Personalized Medicine
John A. Bernat, MD, PhD, FACMG
Clinical Assistant Professor of Pediatrics
Associate Director of Molecular Testing, Shivanand R. Patil Cytogenetics and Molecular Laboratory
University of Iowa
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:
Staff - American College of Medical Genetics and Genomics
The following have nothing to disclose.
Jane Radford, MHA, CHCP
Claudia Barnett
Maximilian Muenke, MD, FACMG
The following presenters have nothing to disclose:
Marissa Ellingson, MS, CGC
John A. Bernat, MD, PhD, FACMG-Moderator
Dr. Bernat has disclosed that he is a consultant for Sanofi Genzyme, Takeda Pharmaceutical Co, and he has grant research support for Sanofi Genzyme, Protalix BioTherapeutics, Takeda Pharmaceutical Co, and Idorsia.
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 enduring 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
Pass a post-test with a score of 80% or better. Complete the activity evaluation form.
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Content Validation and Fair Balance
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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.
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