Precision Medicine for Vascular Anomalies: a Model for Somatic Mutation Driving Non-Neoplastic Diseases
Date: July 9, 2024
Presented by:
James T. Bennett, MD, PhD
Associate Professor, Department of Pediatrics, Department of Lab Medicine and Pathology (Adjunct)
University of Washington/Seattle Children’s Hospital
Description:
The concept of the “personalized genome” is pervasive in human genetics. There is an ever-increasing armament of diagnostic tests designed to detect, record, and interpret genetic variation in DNA. However, almost all genetic testing, outside of cancer, starts with a single sample- usually blood or saliva, simply because they are the easiest to collect. An implicit assumption of this approach is that the genomes of the cells in this single sample represent the genomes of every other cell in the body. Because mutations occur with every cell division, every multicellular organism, including humans, has a multitude of genomes caused by somatic mutation. The detection of somatic mutations has recently played a huge role in the diagnosis and management of individuals with isolated vascular malformations, a disease with significant morbidity caused by abnormal morphogenesis of blood and lymphatic vessels. In this seminar I discuss “VANSeq,” a diagnostic assay designed for molecular diagnoses of these conditions. I also talk about intralesional signaling within these lesions and out attempts to make molecular diagnoses using non-invasive “liquid biopsies.” I describe new attempts to catalogue somatic mutation in a larger cohort of humans more broadly, as a part of the SMaHT (Somatic Mosaicism across Human Tissues) initiative.
Learning Objectives:
- Recognize the limitations of routine blood-based exome and genome sequencing for individuals with vascular malformations, most of which are due to mosaic activating mutations
- Describe the two main factors that go into successful molecular diagnosis of vascular malformations: a) sequencing of affected (FFPE or frozen) tissues and b) use of methods that are sensitive to low variant allele fractions
- Consider the implicit assumption in all blood based genetic tests, and reflect that a large amount of potentially pathogenic genetic variation is vastly underascertained
________________________________________________________________________________________________
Streamlined testing for imprinting disorders via long-read sequencing
Date: May 7, 2024
Presented by:
Cate Paschal, PhD, FACMG
Director, Cytogenetics and Molecular Diagnostics
Seattle Children’s Hospital
Description:
In this webinar, we explore the intricacies of long-read sequencing technology, gaining an understanding of its current capabilities and future implications. We discuss the latest clinical testing strategies for imprinting disorders and discern how long-read sequencing stacks up against standard methods. This talk highlights how advances with long-read sequencing could improve specific patient diagnoses and what is needed to get there.
Learning Objectives:
- Summarize long read sequencing technology
- Discuss current clinical testing strategies for imprinting disorders
- Compare long read sequencing with standard clinical testing in the evaluation of individuals with known imprinting disorders
________________________________________________________________________________________________
The Chronicles of Molecular Pathology Coding Complexity: A path to aligning the Lab, the Payer and the Clinic
Date: April 2, 2024
Presented by:
Samantha Sandy, MS LCGC, CPC, CPCO
Genetic Counselor, Certified Professional Coder and Compliance Officer
Independent Consultant
Description:
Molecular pathology coding is complex with varying interpretations of correct coding, billing styles and reimbursement of services. By providing a foundation of where we are, where we’ve been and where we are going within molecular coding, we can outline a path forward for alignment between the labs, payers and the clinic. Cross collaboration within industry and alignment on best billing practices ensures patients have access to vital genetic testing. This talk highlights the challenges faced across industries and provides suggestions to begin to bridge the gaps and bring key stakeholders to the table for future conversations.
Learning Objectives:
- Provide an overview of the complexities of molecular pathology coding including where we have been and where we are going.
- Discuss the challenges with the current interpretation of genetic coding solutions and provide a call to action for stakeholders to partner to improve the patient experience.
- Illustrate the end-to-end process of genetic testing from the clinic/patient, lab and payer perspectives to highlight opportunities for breaking down silos and moving forward with solutions.
________________________________________________________________________________________________
Stewards of the Future: Engaging Trainees in Laboratory Utilization Initiatives
Date: March 5, 2024
Presented by:
Michelle Stoffel, MD, PhD, MSc
Associate Chief Medical Information Officer for Laboratory Medicine & Pathology,
M Health Fairview; Assistant Professor, Department of Laboratory Medicine & Pathology, University of Minnesota
Description:
This webinar describes the benefits of engaging laboratory medicine and pathology trainees in laboratory stewardship initiatives and gives practical examples of how to include learners at any training level in implementing utilization improvements.
Learning Objectives:
- Discuss the benefits of exposing trainees to concepts of laboratory stewardship and equipping them with strategies to optimize appropriate utilization in their future careers.
- List effective strategies for trainee engagement in laboratory stewardship activities.
- Explore practical methods for involving trainees in laboratory utilization-related data analysis work.
________________________________________________________________________________________________
LabTalk: The Challenging Role of Laboratory Stewardship in Complementary and Integrative Medicine, Functional Medicine, and Direct-to-Consumer Testing
Date: February 6, 2024
Presented by:
Geoffrey Baird MD, PhD
Professor and Chair, Department of Laboratory Medicine and Pathology
University of Washington, Seattle
Michael Astion, MD, PhD
Creator and Co-Founder, PLUGS, Seattle Children’s Hospital
Professor, Department of Laboratory Medicine and Pathology
University of Washington, Seattle
Nikki Gentile, MD, PhD
Assistant Professor
Department of Family Medicine
Department of Laboratory Medicine and Pathology
Co-Director, Post-COVID Rehabilitation and Recovery Clinic
University of Washington
Description:
Complementary and Alternative Medicine, as well as the related concept of Functional Medicine, include approaches to medicine that are strongly evidence-based and approaches which are more experiential and less evidence-based. This challenges lab stewardship programs, which must meet the needs of patients who are pursuing both conventional and alternative medical care. Direct- to-consumer (DTC) testing, presents similar issues in that it produces a subset of patients who are directing their own care, using approaches that can be strongly evidence-based, or not. This Lab Talk, which will be moderated by Dr. Jane Dickerson, PLUGS co-founder, provides background into challenges associated with Complementary and Integrative Medicine, Functional Medicine, and DTC Testing, and provides concrete ideas regarding using lab stewardship fundamentals to increase benefit and reduce harm to patients.
Learning Objectives:
- Define Complementary and Integrative Medicine, Functional Medicine, and Direct-to-Consumer Testing.
- List two laboratory stewardship challenges associated with Complementary and Integrative Medicine, or Functional Medicine. For each challenge, describe an approach to mitigate the challenge.
- List two advantages and two disadvantages of DTC testing.
- Describe two ways to either increase the benefits or decrease the risks associated with DTC testing.
________________________________________________________________________________________________
Responding to Financial Challenges with Lab Stewardship
Date: January 9, 2024
Presented by:
Monica Wellner
Director of Operations, PLUGS
Laboratory Director, Seattle Children’s Hospital
Drew Bell, PhD
Director of Microbiology, Seattle Children’s Hospital
Assistant Clinical Professor, Department of Laboratory Medicine and Pathology, University of Washington
Description:
This webinar describes the four elements of successful stewardship programs and highlight strategies to identify cost-saving opportunities – including send-out case review, process improvements, and staffing optimizations.
Learning Objectives:
- Summarize the 4 elements of a successful lab test stewardship program.
- Describe 2 examples of cost saving stewardship interventions.
