Plenary Sessions

Sunday, August 4

Dr. David WaltOpening Plenary Session
2019 Wallace H. Coulter Lectureship Award
Biomarker Discovery: From Technology Development to Clinical Applications

David R. Walt, PhD
Hansjörg Wyss Professor, HHMI Professor, Department of Pathology, Harvard Medical School
Core Faculty—Wyss Institute for Bioinspired Engineering at Harvard University

In this session, Dr. Walt will describe how biomarker discovery is performed today and will discuss how we can compress the timeframe from discovery to clinical impact. He will draw upon his experiences in translating research from an academic lab to the commercial sector. Some successful examples of how novel technologies have found their way to the clinic will be described.

Monday, August 5

Dr. Julie KorenbergTranslating Genes, Brain, and Behavior: A Next Generation Human Framework

Julie Korenberg, MD, PhD
Professor of Pediatrics
Director, Center for Integrated Neuroscience and Human Behavior
University of Utah

Peering into the brain’s black box for how we think/feel/communicate reveals neural circuitry as a common language that yokes the power of human genetics to its influences in development and disease, on brain architecture, and behavior. Uncommon partial aneuploidies (Williams and Down syndromes) provide genes influencing human cognition/social-emotional behavior and these unexpectedly implicate primate hypothalamic circuitry. The trail leads, via neural imaging, to dysregulated hormones, a perturbed transcription factor (neuronal development), and an unknown tract spanning the brain limbic system. This is the next era of brain diagnostics and therapeutics in which new gene-disease associations are rapidly translated to brain circuitry.  

Tuesday, August 6

Dr. Virginia KaklamaniUsing Biomarkers to Tailor Treatment for Breast Cancer
Virginia Kaklamani, MD, DSc
Professor of Medicine, UT Health San Antonio MD Anderson Cancer Center 

Treatment of breast cancer has evolved in the past several years. The estrogen receptor has been used to select patients who are candidates for endocrine therapy. Genomic assays are currently being used to select patients who may not benefit from chemotherapy in the early stage setting. Markers such as PIK3CA mutations, PD-L1 staining, and ESR1 mutations select patients who may benefit from targeted therapies or may have resistant tumors to other therapies. Breast cancer evolves and this evolution leads to emergence of resistance.

Wednesday, August 7

Dr. Euan AshleyTowards Precision Medicine
Euan Ashley, BSc, MB ChB, FRCP, DPhil, FAHA, FACC, FESC
Professor of Medicine, Genetics & Data Science Director, Stanford Center for Inherited Cardiovascular Disease

The session will introduce the concept of precision medicine, particularly with reference to clinical genomics, using specific patient examples, including from the Undiagnosed Diseases Network. Algorithmic approaches to human genome interpretation will be discussed and areas where current technologies fall short of clinical grade test quality will be highlighted. Newer technologies such as long read sequencing and new algorithms for improving test performance in complex areas of the genome will be introduced. Finally, near term opportunities for predictive and preventive genomic medicine will be examined in the context of changing healthcare delivery environments.

Thursday, August 8

Dr. Carl WittwerExtreme Molecular Diagnostics
Carl Wittwer, MD, PhD
Professor of Pathology, University of Utah

Extreme molecular diagnostics takes only seconds. With very short turn-around times, pre-analytical and post-analytical challenges are minimized, point-of-care testing makes sense, and high-throughput is not necessary. Real-time “extreme” PCR in <15-seconds (35 cycles, 60-bp human genomic DNA) is specific, sensitive, and high yield. High-speed melting analysis (4-seconds) allows single base genotyping and variant scanning. Rapid reverse transcription and sample preparation will enable sample-to-answer diagnostics in <1-minute. The value of point-of-care testing depends on how quickly it can be performed.