LGG Molecular Mentored Case Studies

Molecular Genetics and Genomics Mentored Clinical Cases: An LGG Alternative Certification Pathway Short Course

Thursday, April 1, 2021, 11:00 am ET – 5:30 pm ET
Zoom Meeting
(A detailed agenda is below)

Description:

This short course is a required component of the ABMGG LGG Alternative Certification Pathway. This course is valuable to those who intend to sit for the Laboratory Genetics and Genomics (LGG) certification examination.

Enrollment is for both trainees and those participants currently enrolled in the ACMG Alternative Pathway to Board Certification in Laboratory Genetics and Genomics Training Program.

During this session you will be assigned to a breakout group. You will have multiple cases to work through and will rotate between faculty to discuss complex and interesting clinical cases that integrate cytogenetics and genomics testing. You will rotate ~45 mins from faculty to faculty. One case study on inherited cancers is available for viewing immediately upon registration. Participants are to watch this one 30 minute session recorded in June of 2020 and posts questions in the course Q&A tab.

Learning objectives:

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

• Select the proper molecular and cytogenetics methodologies for evaluation of genetic disorders

• Discuss genotype: phenotype associations
• Review limitations of various molecular and cytogenetic methodologies
• Discuss approaches to integration of cytogenetic and molecular results
• Define testing guidelines for specific disorders

• Review cytogenetic and molecular nomenclature
• Learn how to approach evaluation and troubleshooting of complex cases

This is a Zoom meeting and you will need:

• To be in a quiet place
• Have strong internet connection (hard wired is best)
• Have a good headset or microphone
• Have a video camera
• Dress code is business casual

Thursday, April 1 - Agenda

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 6.0 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

CE (Continuing Education for non-physicians): This activity has been approved for CE credits.
*The certificate is accepted by the ABMGG for certification.

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 live course for a maximum of 6.0 contact hours. ACMG is approved by the Florida Board of Clinical Laboratory Personnel as CE Provider #50-11878. This course is registered #20-835378 with CEBroker. This course is registered # 20-775394 with CEBroker. ACMG is approved by the California Department of Health Services through the ASCLS P.A.C.E.®

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

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.

Faculty

Thomas William Prior, PhD, FACMG

Thomas W. Prior is a Professor of Pathology and Director of the Molecular Genetics Laboratory at Case Western Reserve University. I joined The Case Western University faculty in March of 2018, after spending 28 years on the faculty at Ohio State University. I have a longstanding research interest in the genetics of neuromuscular disorders, specifically in clinical applications and mutation detection.

I have been most recently involved in the genetic disorder, spinal muscular atrophy (SMA). While at Ohio State, we developed the first SMA carrier test and I have been involved in both population carrier and newborn screening projects for SMA. I have also been active in determining the role of the SMN2 gene and other gene modifiers in effecting the disease phenotype and the identification of new types of mutations in the spinal muscular atrophy gene and their effect on the disease severity. The Laboratory was also been active in several SMA clinical trials. I have always enjoyed and taken my role as an educator very seriously. I served on the Board of Directors of the American Board of Medical Genetics and Genomics from 2011 to 2016. My laboratory performs a major teaching function at Case Western.

Pathology residents, medical students, genetic fellows, graduate students and genetic counseling students perform rotations through the laboratory every year. I have also been the advisor of 6 PhD graduate students and have served on many graduate student committees.

Elaine Lyon, PhD.

Dr. Lyon received her Ph.D. in Medical Genetics from the University of Alabama at Birmingham and is certified by the American Board of Medical Genetics in Clinical Molecular Genetics. As a Medical Director of Molecular Genetics/Genomics at ARUP Laboratories for over 20 years, she oversaw molecular testing for inherited diseases, where she designed and validated laboratory assays for clinical use. Her roles comprised test development, quality assurance and review of technical and interpretive data. She currently is the Director of the Clinical Services Laboratory at HudsonAlpha Institute for Biotechnology which provides clinical genomes for patients with rare, undiagnosed diseases. As a consultant, Dr. Lyon serves as Vice President of Clinical Services for the Center for Genomic Services, a not-for-profit organization promoting quality results and interpretation in genomic testing. Dr. Lyon volunteers her expertise for professional organizations such as the American College of Medical Genetics and Genomics (ACMG), the Association for Molecular Pathology (AMP) and the American Medical Association (AMA). She participated in developing standards and guidelines such as “Clinical Standards for Next Generation Sequencing” (ACMG) and “Interpretation of Sequence Variants” (ACMG/AMP). Her national and international efforts have promoted appropriate molecular genetic clinical testing. As President of the AMP in 2014, she focused on demonstrating the value of molecular pathology, resulting in the manuscript entitled “The Spectrum of Clinical Utilities in Molecular Pathology Testing Procedures for Inherited Conditions and Cancer” (AMP)”. She currently serves as a Molecular Director for the ACMG Board of Directors and Executive Committee, a member of the AMA’s Molecular Pathology Advisory Group and a member of the Medicare Advisory Panel on Clinical Diagnostic Laboratory Tests (Centers for Medicare and Medicaid Services).

Cindy L. Vnencak-Jones, PhD

Professor of Pathology, Microbiology & Immunology and Pediatrics and Medical Director, Molecular Diagnostics Lab, Vanderbilt University Medical Center (VUMC).
Cindy Vnencak-Jones received her Ph.D. in Human Genetics from the Medical College of Virginia-Virginia Commonwealth University in 1985 and did her post-doctoral fellowship at Vanderbilt in the Department of Pediatrics. In 1989, she established the clinical Molecular Diagnostics Lab at Vanderbilt performing DNA/RNA based testing for inherited diseases, molecular profiling of solid tumors and hematopoietic neoplasms and pharmacogenetics testing to optimize drug selection and proper dosing of medication.
As a researcher, Dr. Vnencak-Jones has published over 125 peer reviewed articles and book chapters in pharmacogenetics, molecular profiling of cancer, diagnosis of inherited diseases, and detection of infectious agents. She is on the editorial board for the Journal of Molecular Diagnostics, Archives of Pathology and Laboratory Medicine and Molecular Diagnosis & Therapy.
As Medical Director of the Molecular Diagnostics lab, Dr. Vnencak-Jones trains residents in molecular diagnostics and serves as the program director for the VUMC ABMGG-LGG fellowship program and as the associate director for the ABP - Molecular Genetic Pathology fellowship program. Dr. Vnencak-Jones has been active in the Association for Molecular Pathology served on the Board of Directors for the American Board of Medical Genetics and Genomics from 2011 to 2015.

Elaine B. Spector, PhD, FACMG

Elaine Spector, PhD, FACMG is a Professor of Pediatrics in the Division of Genetics and Metabolism at the University of Colorado School of Medicine, Denver, CO. Dr. Spector graduated from Washington University in 1970 and completed her PhD thesis in 1974 in the Department of Human Genetics at the University of Michigan with an emphasis in cytogenetics and biochemical genetics. Dr. Spector completed a postdoctoral fellowship in biochemical genetics at the University of California San Diego and then performed research on inherited disorders of the urea cycle at the University of California Los Angeles for 8 years beginning in 1976. In 1985 while at UCLA Dr. Spector established one of the first Molecular Diagnostic Laboratories in the United States. After moving to the University of Colorado School of Medicine Dr. Spector has been the director of both clinical cytogenetics and clinical molecular genetics laboratories. Studies in the molecular genetics laboratory have focused on rare disorders with an emphasis on Fragile X syndrome, nonketotic hyperglycinemia (NKH), Glutaric Acidemia Type I (GA1), VLCAD deficiency, and albinism. Dr. Spector is a fellow of the American College of Medical Genetics and Genomics (ACMG) and served on the Board of Directors. Dr. Spector is a diplomate of the American Board of Genetics and Genomics (ABMGG) and is currently certified in clinical biochemical genetics, clinical molecular genetics and clinical cytogenetics. Dr. Spector currently serves on the Board of Directors of the ABMGG as the Treasurer.

Erin Nicole Wakeling, PhD, FACMG

Erin Wakeling, PhD, FACMG is the technical director of the Molecular Genetics Diagnostic Laboratory at the Detroit Medical Center. She did her graduate training in genetics at Michigan State University and her post-doctoral clinical molecular genetics training at WSU SOM. She is certified by the American Board of Medical Genetics and Genomics in Clinical Molecular Genetics and Genomics. Dr. Wakeling is involved in developing new assays and interpreting genetic test results for a wide range of inherited diseases and cancers. She also supervises genetics residents and genetic counseling students during their rotation through the laboratory.

Drew G. Michael, PhD, FACMG

Dr. Drew Michael is a ABMGG board certified geneticist with extensive experience in molecular genetics and computational genomics. He has a proven track record of success in next generation sequencing (NGS) test development, validation and analysis. Prior to his role at Children's National, Dr. Michael served at the NIH as the NIH/NHGRI Chief Clinical Genetics Fellow. While at the NIH, Dr. Michael developed a multi-dimensional genomic analysis system incorporating whole genome sequencing, RNA-seq, ATAC-seq and CRE-seq that was used for molecular diagnosis of patients at the NIH Clinical Center. This project was awarded the NIH Director’s Innovative Research Award. Dr. Michael is double board certified by the American Board of Medical Genetics and Genomics (ABMGG) in Clinical Molecular Genetics and Clinical Biochemical Genetics.

David Murdock, MD, FACMG

Dr. Murdock is an Assistant Professor in the Department of Human and Molecular Genetics at Baylor College of Medicine (BCM). He is also the Assistant Director of the BCM Human Genome Sequencing Center Clinical Laboratory (HGSC-CL). His clinical and research interests involve connective tissue disorders including Marfan and Loeys-Dietz syndrome that are associated with aortic aneurysms and dissections. He is particularly interested in identifying new genes associated with aortopathies and exploring the mechanisms of genetically-mediated aneurysm development. He is an active participant in the Undiagnosed Diseases Network as a clinician and leader of the sequencing analysis team where he analyzes exome, genome, and RNA-seq data. He is committed to the growing field of precision medicine through the NIH-funded eMERGE and All of Us efforts and as a co-investigator of the BCM HeartCare project. Dr. Murdock received his B.S. in Bioengineering from Rice University and M.D. from Baylor College of Medicine. He subsequently did a postdoctoral fellowship in human genetics at BCM followed by an internal medicine residency at Louisiana State University Health Sciences Center Shreveport. He completed his fellowship training in clinical and molecular genetics at the National Institutes of Health. He is board certified in internal medicine as well as clinical and molecular genetics.

Robert Hufnagel, MD, PhD, FACMG

Chief, Medical Genetics and Ophthalmic Genomics Unit

Chief, Ophthalmic Genomics Laboratory

NIH: National Eye Institute

Dr. Robert Hufnagel is a clinician-scientist in the Ophthalmic Genetics and Visual Function Branch of the National Eye Institute. This branch of the National Institutes of Health plans and conducts clinical and laboratory research of gene expression, molecular genetics, cell biology, and molecular interactions important to the eye, and applies clinically relevant research findings to the prevention, diagnosis, and treatment of diseases affecting the eye and the visual system.

The goal of Dr. Hufnagel’s cutting edge research program applies the scientific approaches of developmental biology and molecular genetics to hereditary ophthalmic diseases to improve diagnosis and ultimately vision for these patients. Dr. Hufnagel has developed a translational research program using genomic sequencing to identify disease etiologies to discover novel disease genes and molecular targets for therapeutic trials.

His medical and research training has centered around clinical genetics, next-generation sequencing, bioinformatics, genome editing, induced pluripotent stem cells, and animal models including mouse, zebrafish, and lizard.

Dr. Hufnagel received his Ph.D. in neuroscience and his M.D. from The University of Cincinnati. He has published numerous publications and received many accolades for his work including the Director’s Award from the National Eye Institute.