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Featuring the 2020 Digital Edition of Genetic Counselors Luncheon and Forum: Requesting and Working with Raw Genomic Data

 

Date of Release: December 22, 2020       

Estimate time of completion: 1 hour
Educational Credits are not offered 

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

• Raw Data Request Process- Casie A. Genetti, MS, CGC
• Raw Data Files - Jesse R. Walsh, PhD
• Tools for Analyzing Raw Data - Matthew Lebo, PhD, FACMG
• Case Vignettes - Casie A. Genetti, MS, CGC

Target Audience

1. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
2. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Learning Objectives

At the conclusion of the series, participants should be able to:

• Describe the process of requesting raw genomic data files and understand the benefits and limitations of various file types.
• Identify resources available to clinicians, researchers, and patients wishing to explore genomic data sets.
• Demonstrate preparedness to address patient questions pertaining to the availability and value of obtaining and working with their genomic data files.
• Discuss the role that the request of genomic data can play in the diagnosis of rare disease.
• Illustrate reasons for obtaining raw genomic data and identify steps in the request process.
• For a Next Generation Sequencing (NGS) pipeline, describe the types of data created at critical steps in the process and how this information is transformed to generate the variant call files.
• Assess publicly available tools and resources for genomic data visualization, annotation, and interpretation.
• Explain ethical concerns that laboratories, providers, and patients might have related to the release of their genomic raw data

 

Presenters

Cherisse A. Marcou, PhD

Co-director of the Clinical Cytogenetics Laboratory at the Mayo Clinic

 
Marissa Ellingson, MS, CGC
Genetic 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:

• 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.

 

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:

Cherisse A. Marcou, PhD

Marissa Ellingson, MS, CGC

Casie A. Genetti, MS, CGC

Jesse R. Walsh, PhD

Matthew Lebo, PhD, FACMG

 

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.

 

HIPAA Compliance

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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.

 

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.

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.