The reliability, robustness and reproducibility of next-generation sequencing platforms are no longer questioned, making the unstoppable march of genomics into clinical practices a reality. However, many challenges remain for the successful translation of genomic knowledge into health advances and clinical utility.
Bio-IT World and Cambridge Healthtech Institute are again proud to host the Fourth Annual TCGC: The Clinical Genome Conference, inviting stakeholders impacting clinical genomics to share new findings and solutions for advancing the applications of clinical genome medicine.
Final AgendaDay 1 | Day 2 | Day 3 | Download Brochure | Speaker Biographies
Monday, June 22
9:00 am Short Course Registration and Morning Coffee
10:00 am-1:00 pm Short Course
2:00 Conference Registration
3:00 Chairperson’s Opening Remarks
Eric Holland, M.D., Ph.D., Director, Solid Tumor Translational Research, Fred Hutchinson Cancer Research Center
KEYNOTE SESSION
3:15 Through the Keyhole to Genomic Wonderland: Common Sense, Beyond Uncommon Nonsense
Nathaniel Pearson, Ph.D., Senior Director, Scientific Engagement & Public Outreach, New York Genome Center
One hundred fifty years after Gregor Mendel first systematically probed genetic heritability, we
risk forgetting a key insight from his work, in our rush to broaden clinical genomics from urgent
diagnosis for a few to lifelong care for all. By fully embracing that insight now, we can wisely
bolster our health infrastructure for the long haul.
4:00 Integrating the Principles of Preventative and Personalized Medicine to Advance Wellness
Nathan D. Price, Ph.D., Associate Director, Institute for Systems Biology
Future medicine will be more proactive and data-rich than anything before possible – and
will focus on maintaining and enhancing wellness more than just reacting to disease. We
have launched a large-scale 100K wellness project that integrates genomics, proteomics,
transcriptomics, microbiomes, clinical chemistries and wearable devices to monitor wellness
and disease. I will present results from our pilot study of 107 individuals, showing how this data
led to actionable findings for individuals to improve health and reduce risk drivers of disease.
4:45 Big Data in Translational Cancer Genomics
Laura J. van ’t Veer, Ph.D., Director, Applied Genomics and Angela and Shu Kai Chan Endowed Chair, Cancer Center, UCSF Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco
Molecular genomics contributes to the knowledge of who is at risk to develop cancer, how
external factors may influence this risk, whether tumors are likely to metastasize or not, and
which subtype of tumors will likely respond to what therapy. Dr. van ’t Veer’s current research
involves integrating various types of genomics data, including next-generation sequencing big
data, and is aimed at understanding the molecular basis for early response to therapy as a
surrogate for long-term survival prediction.
5:30 Welcome Reception in the Exhibit Hall with Poster Viewing
6:30 Close of Day
Day 1 | Day 2 | Day 3 | Download Brochure | Speaker Biographies
Tuesday, June 23
7:00 am Breakfast Presentation (Sponsorship Opportunity Available) or Morning Coffee
8:00 Chairperson’s Remarks
Nathaniel Pearson, Ph.D., Senior Director, Scientific Engagement & Public Outreach, New York Genome Center
8:05 FEATURED PRESENTATION: CIViC: CLINICAL INTERPRETATION OF VARIANTS IN CANCER
Malachi Griffith, Ph.D., Associate Director, The Genome Institute; Assistant Professor, Genetics, Washington University School of Medicine
To realize the potential of personalized medicine, genomic aberrations must be placed in the context of therapeutic response and diagnostic or prognostic associations. The evidence for these associations must be captured and characterized so that we can achieve a principled consensus among genomic experts, pathologists and oncologists on how best to interpret a genomic alteration in a clinical context. To this end, we present CIViC as a forum for the clinical interpretation of variants in cancer.
8:35 Identification of Independent Primary Tumors and Intrapulmonary Metastases Using DNA Rearrangements in Non-Small Cell Lung Cancer
George Vasmatzis, Ph.D., Assistant Professor, Laboratory Medicine & Pathology, Mayo Clinic & Foundation
Distinguishing independent primary tumors from intrapulmonary metastases in non-small cell carcinoma remains a clinical dilemma with significant clinical implications. Using next-generation DNA sequencing, we developed a chromosomal rearrangement-based approach to differentiate multiple primary tumors from metastasis. A total of 41 tumor samples were sequenced. Lung tumors predicted to be independent primary tumors based on different histologic subtype did not share any genomic rearrangements. Concordance between histology and genomic data occurred in the majority of cases. Discrepant cases were resolved by genome sequencing.
9:05 The Role of Genome Sequencing in Personalized Breast Cancer Prevention
Weiva Sieh, M.D., Ph.D., Assistant Professor, Epidemiology, Department of Health Research and Policy, Stanford University School of Medicine
The benefits of genome sequencing for guiding personalized preventive strategies at the population level are uncertain. We evaluated the benefits and harms of targeting preventive efforts to the subpopulation of women whose genomes put them at highest risk of breast cancer using mathematical models for (1) 86 currently known breast cancer susceptibility alleles and (2) assuming complete knowledge of all breast cancer genes. Our findings suggest that genome sequencing has the potential to guide personalized breast cancer prevention, and that the benefits will improve with increased understanding of the genetic etiology of breast cancer.
9:35 Talk Title to be Announced
David Jackson, Ph.D., Chief Innovation Officer, Molecular Health
9:50 Sponsored Presentation (Opportunity Available)
10:05 Coffee Break in the Exhibit Hall with Poster Viewing
10:45 Integration of Genetic and Epigenetic Data to Understand Genetic Risk of Prostate Cancer
Bogdan Pasaniuc, Ph.D., Assistant Professor, Pathology & Laboratory Medicine and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles
Although genome-wide association studies have identified over 100 genetic loci that increase risk for developing prostate cancer, their functional effects on risk remain largely unknown. I present new approaches that integrate large-scale genetic data with cell-type-specific epigenetic functional annotation data to gain insights into the genetic architecture of prostate cancer risk.
11:15 Ultrasensitive Detection of Circulating Tumor DNA by Deep Sequencing
Maximilian Diehn, M.D., Ph.D., Assistant Professor, Radiation Oncology, Stanford Cancer Institute, Institute for Stem Cell Biology & Regenerative Medicine, Stanford University
Circulating tumor DNA (ctDNA) represents a promising biomarker for detection and monitoring of cancers. Work on clinical applications of next-generation sequencing-based ctDNA quantitation will be discussed.
11:45 Presentation to be Announced
12:15 pm Session Break
12:30 Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own
2:00 Chairperson’s Remarks
Malachi Griffith, Ph.D., Associate Director, The Genome Institute; Assistant Professor, Genetics, Washington University School of Medicine
2:05 An Approach to Whole-Genome Sequence as a Lifelong Health Resource
Sek Won Kong, M.D., Assistant Professor, Medicine/Informatics Program, Harvard Medical School and Boston Children’s Hospital
Accumulated genomic variants provide a foundation of information in the context of precision medicine, and an individual genome can be a resource for lifelong well being. To achieve analytical validity of whole-genome sequence for clinical use, a reproducible and accurate analysis and interpretation pipeline is required. Carrier status of disease-causing mutations and pharmacogenomic variants are of primary interest; however, estimating genetic liability for complex diseases using established risk alleles might be informative. We demonstrate how complex trait risk variants from an individual genome can be summarized and reported for the general clinician and patients.
2:35 Whole-Genome Sequencing of the World’s Oldest People
Kristen Fortney, Ph.D., Research Scientist, Stuart K. Kim Laboratory, Developmental Biology, Stanford University
Supercentenarians (110 years or older) are the world’s oldest people. We sequenced the genomes of 17 supercentenarians to see if we could uncover the genetic basis for their extreme longevity. From this small sample size, we were unable to find rare protein-altering variants significantly associated with extreme longevity. We have made the complete genomes of all 17 supercentenarians available as a resource to assist discovery in future studies.
3:05 Sponsored Presentation (Opportunity Available)
3:35 Refreshment Break in the Exhibit Hall with Poster Viewing
4:15 Understanding Deep Metagenomics Sequencing in Clinical Samples
Arun Rawat, Ph.D., Bioinformatician II, Translational Genomics Research Institute
Decreasing cost of next-generation sequencing provides unique opportunities to identify host-associated microbial communities in clinical samples. Our goal is to understand the unknown etiologic agent in symptomatic patients to allow faster clinical decisions. Prediction of undiagnosed disease is possible with high reliability despite the variability in metagenomic samples and computational challenges.
4:45 Leveraging Germline Genomics to Improve an Individual’s Health
John S. Witte, Ph.D., Professor, Epidemiology & Biostatistics and Urology; Head, Division of Genetic and Cancer Epidemiology; Associate Director, Institute for Human Genetics; Co-Leader, Cancer Center Program in Cancer Genetics, University of California, San Francisco
5:15 Interactive Breakout Discussion Groups
Wrap up the day with a moderated discussion group to brainstorm the translation of genomic technologies into the clinic. Use this opportunity to share new findings, propose solutions and develop collaborations with the diverse stakeholders advancing genomic medicine.
6:00 Close of Day
Day 1 | Day 2 | Day 3 | Download Brochure | Speaker Biographies
Wednesday, June 24
7:00 am Breakfast Presentation (Sponsorship Opportunity Available) or Morning Coffee
8:00 Chairperson’s Remarks
Katherine Tynan, Ph.D., Business Development & Strategic Consulting for Diagnostics Companies, Tynan Consulting LLC
8:05 Estimating the Cost Effectiveness of Returning Incidental Findings from Next-Generation Genomic Sequencing
Caroline Bennette, MPH, Ph.D., K12 Patient-Centered Outcomes Research Scholar, Group Health Research Institute, University of Washington
Our team at the University of Washington recently developed a decision-analytic policy model to evaluate the potential clinical and economic impact of returning ACMG-recommended incidental findings from next-generation sequencing. We found that returning incidental findings is likely cost effective for certain patient populations receiving next-generation sequencing, but that screening of generally healthy individuals is likely not cost effective based on current data and sequencing costs. We describe the development of our policy model, summarize key findings and discuss future research directions.
8:35 Case Studies and Case Series of Genomic/Precision Medicine in a Large Children’s Hospital
Stephen F. Kingsmore, MB, ChB, BAO, D.Sc., FRCPath, Executive Director, Panomic Medicine, Children’s Mercy – Kansas City
Over 5400 single-gene diseases are known, affecting 4-8% of children. Genome and exome sequencing are starting to change the approach to patient management in these diseases, specifically regarding early etiologic diagnosis and “N-of-1-genome” treatment strategies. Six large retrospective case studies have been or soon will be published providing the first measurements of costs and benefits of genomic/precision medicine in neurodevelopmental disorders and acutely ill infants. Two individual patient cases illustrate the transformative potential of genomic/precision medicine.
9:05 The Evaluation of the Patient Presenting with Symptoms of Obstructive Coronary Artery Disease: Clinical Validity, Clinical Utility and Economic Utility of a Blood-Based Test Incorporating Age, Sex and Gene Expression
Mark Monane, M.D., CMO, CardioDx
Patients with symptoms suggestive of obstructive coronary artery disease (CAD) frequently undergo unnecessary testing and procedures. Approximately $6.7 billion/year is spent on non-invasive and invasive testing in the U.S. in the non-diabetic population with no prior revascularization or myocardial infarction, yet some patients continue to be misdiagnosed. We present data on a blood test for use in the evaluation of obstructive CAD among symptomatic patients. Data of clinical validity (96% NPV), clinical utility (multiple change behavior studies) and economic utility (cost implications) will be presented.
9:35 Sponsored Presentation (Opportunity Available)
10:05 Coffee Break in the Exhibit Hall with Poster Viewing
10:45 Myths and Realities of Clinical Genomics
David W. Moskowitz, M.D., Chairman, CEO, CMO & CSO, GenoMed, Inc.
Much of what passes for clinical genomics has been a waste of time and money, guided by unrealistic clinical paradigms. This has been fine, because the healthcare system is fundamentally anti-innovative, and is happy to waste the public’s time and money. But for anybody who wants to capture marketshare, it is helpful to review what does and doesn’t work.
11:15 PANEL DISCUSSION: Reimbursement for Genomic Sequencing Services in a Time of Changing Healthcare Business Models
At a time when payers are asking themselves, “Why pay for sequencing services?” come meet the people who are successfully crafting reimbursement arguments for the payers in disease areas as diverse as inherited genetic diseases and oncology. Find out the tactics that are working and why.
Moderator:
Katherine Tynan, Ph.D., Tynan Consulting LLC
Panelists:
Stephen F. Kingsmore, MB, ChB, BAO, D.Sc., Children’s Mercy – Kansas City
David W. Moskowitz, M.D., GenoMed, Inc.
Additional Panelists to be Announced
12:00 pm Session Break
12:15 Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own
1:30 Chairperson’s Remarks
John E. Mattison, M.D., Chief Medical Information Officer, Assistant Medical Director, Southern California Medical Group, Kaiser Permanente
1:35 FEATURED PRESENTATION: IMPACTING HEALTHCARE WITH DATA ANALYSIS - PERSPECTIVES IN DRUG DISCOVERY, GENOMICS AND WEARABLES
Somalee Datta, Ph.D., Director, Bioinformatics, Stanford Center for Genomics & Personalized Medicine, Stanford University School of Medicine
In healthcare, we have an ever-increasing pile of data (aka, Data Tsunami, our favorite cliché). In the last two decades, we have also made tremendous strides in our computational bandwidth. We even found Higgs! What are the challenges with our healthcare data given the existing computational bandwidth?
2:05 Potential Clinical Genomics Applications in China
Bill Zheng, Ph.D., Director, Bioinformatics Section, Institute of Genetic Engineering, Southern Medical University
Next-generation sequencing and microarrays are being extended to clinical diagnosis. Disease can be diagnosed more efficiently and effectively, and the Chinese market has huge innovations in translational medicine. We present the marketing expansion in clinical medicine as well as in health management in China, plus developments in data mining and data management.
2:35 Sponsored Presentation (Opportunity Available)
3:05 Refreshment Break in the Exhibit Hall with Poster Viewing
3:45 PatientsLikeMe: A Social Network and a Research Platform for Patient-Reported Data
Marcia M. Nizzari, MS, Vice President, Engineering, PatientsLikeMe, Inc.
With over 300,000 users, 2,300 conditions and 25 million+ medical datapoints collected, PatientsLikeMe provides a rich source of patient-reported phenotypic data. Patient-reported data provide key input into many areas of healthcare; clinical, payer, pharmaceutical and outcomes research will be positively disrupted by this new source of valuable information. This talk covers existing and proposed uses of those data to drive insights through integration with EHR, NGS data and other sources of -omics data.
4:15 FEATURED PRESENTATION: THE ONCOSCAPE APPLICATION IN CANCER BIG DATA ANALYSIS
Eric Holland, M.D., Ph.D., Director, Solid Tumor Translational Research, Fred Hutchinson Cancer Research Center
We have developed a tool for visualization of combined clinical/molecular data for cancer patients. This tool has been used to interrogate multiple public and private datasets for molecular contributions to clinical behavior.
4:45 PANEL DISCUSSION: Analytics and Reality: The Looming Blurring of Boundaries between Genome and Phenome in Health and Disease: Implications for Ontologies and Landing Zones
To maximize the clinical utility of genomic sequencing data, clinicians must ensure that both genomic and phenomic data is successfully integrated into the electronic health record (EHR) and other patient-centered platforms. This in turn requires understanding of technical infrastructure, security issues, policy requirements and the nature of the data itself. Learn about these topics and more from this panel of experts.
Panelists:
Becky Swain, Entrepreneur & Founding Member, Cloud Security Alliance
John E. Mattison, M.D., Chief Medical Information Officer, Assistant Medical Director, Southern California Medical Group, Kaiser Permanente
Additional Panelists to be Announced
5:30 Close of Conference
Day 1 | Day 2 | Day 3 | Download Brochure | Speaker Biographies