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Integration of Functional Genomics to Improve Variant Interpretation and Diagnosis

Date of Release: July 19, 2021

Expiration Date: July 1, 2023

Credits offered: CME, P.A.C.E.®

Estimate time of completion: 4. 5 hours

Course must be completed by the expiration date.

www.acmgeducation.net

Course Description

Clinicians and laboratorians alike are faced with an increasing multitude of variants of uncertain significance. While population-level databases continue to improve and provide a relatively standardized metric for significance; functional interpretation remains highly complex and context-dependent. While clinical functional annotation services are increasingly available, adoption has been limited.

 When can the assays contribute strongly to variant reinterpretation? What labs may perform this testing? How can a clinician become involved in the process?

This short course reviews several types of functional assays and their unique considerations when reclassifying a variant. Assays discussed include measures of metabolism, epigenetic imprinting, RNA sequencing, transporter/ion channel electrophysiology and reporter gene assays. While not meant to be a comprehensive survey, this course will highlight scenarios where one should consider the use of a functional assay and a strategy for clinical investigation.

Target Audience

Clinicians, clinical geneticists, molecular geneticists, genetic counselors, patient group advocates.

Learning Objectives

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

1. Articulate several functional assays with broad applicability across disease areas
2. Discuss genotype-phenotype associations
3. Review limitations of various functional methodologies
4. Discuss potential benefits and strategies of researcher collaboration
5. Demonstrate the importance of coupling clinical phenotypes and in vitro functional assays to determine the pathogenicity of identified DEAF1 variants
6. Describe case examples that illustrate the need for patient-derived cells to characterize the effects of specific DEAF1 variants
7. Define types of DNA methylation changes caused by the underpinning genetic defects in Mendelian disorders
8. Describe current clinical application of genomic DNA methylation episignature testing in patients with rare disorders
9. Apply clinical metabolomics to screen for neurometabolic diseases
10. Describe how metabolomics can be used to assess response to therapeutic interventions

Moderators:

Sarah Elsea, PhD, FACMG

Professor, Baylor College of Medicine

Akash Kumar, MD, PhD, MS

Medical Geneticist, Stanford University

Presenter(s):

Garry Cutting, MD, FACMG

Aetna/U.S. Healthcare Professor of Medical Genetics, Johns Hopkins University

V. Reid Sutton, MD, FACMG

Professor of Molecular & Human Genetics, Baylor College of Medicine

Lisa Emrick, MD

Assistant Professor, Baylor College of Medicine

Bekim Sadikovic, PhD, FACMG

HeadoOf Division of Molecular Diagnostics, London Health Sciences Centre (LHSC)

Philip Jensik, PhD

Assistant Professor, Department of Physiology, Southern Illinois University School of Medicine

Stanley Nelson, MD

Professor, University of California Los Angeles

CME, P.A.C.E^® 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 4.5 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

P.A.C.E.® CEUs- Laboratory Directors and Laboratory Personnel

ACMG is approved as a provider of continuing education programs in the clinical laboratory sciences by the American Society for Clinical Laboratory Science (ASCLS) Professional Acknowledgment for Continuing Education (P.A.C.E.®) Program.

The American College of Medical Genetics and Genomics designates this OnDemand course for a maximum of 4.5 contact hours. ACMG is approved by the Florida Board of Clinical Laboratory Personnel as CE Provider #50-11878. This course is registered # 20-865016 with CEBroker.  ACMG is approved by the California Department of Health Services through the ASCLS P.A.C.E.®

Claiming your Educational Credits

Complete the activity, score 80% or better on the post-test, and carefully complete the evaluation form.

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 within the past 12 months that creates a real or apparent conflict of interest. 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.

Content Validation and Fair Balance

1. ACMG follows the ACCME policy on Content Validation for CME activities, which requires:
2. 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.
3. 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.
4. 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.
5. 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.

HIPAA Compliance by Faculty

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 at that a HIPAA-compliant consent form is on file at their institution, or to send ACMG a copy of the HIPAA compliance form. This information is on record at the ACMG Administrative Office and will be made available upon request.

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 s or exclusive of other procedures and s 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 toeducation@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.