TCGC: Clinical Genome Conference TCGC: Clinical Genome ConferenceTCGC: Clinical Genome Conference

TCGC: The 4th Annual Clinical Genome Conference 2015
- TCGC:第4届临床基因年会 2015年 -
2015年6月22 - 24日
美国,加州,旧金山,Hotel Kabuki

随著次世代定序平台的可信度、强健度、以及再现性已经不再受到怀疑,基因体学迈入临床实务也成为势不可挡的现实。然而要将基因体知识成功转植到临床实用上仍有许多挑战。

第四届Bio-IT World and Cambridge Healthtech Institute很荣幸地再次举办TCGC: The Clinical Genome Conference,邀集了在临床基因领域具有影响力的利害关系人,分享推动临床基因药物应用的新发现与解决方案。


议程

第1天 | 第2天 | 第3天

6月22日(一)


9:00 am 短期课程报到手续与早安咖啡

10:00 am-1:00 pm 短期课程


2:00 年会报到开始

3:00 主席致开幕欢迎词

Eric Holland, M.D., Ph.D., Director, Solid Tumor Translational Research, Fred Hutchinson Cancer Research Center


主题演讲

3:15 从钥匙孔到基因梦幻乐园:常识、超越不寻常的胡闹

Nathaniel PearsonNathaniel 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 结合预防医学与个性化医疗的原则以改善健康

Nathan PriceNathan 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 转译癌症基因体学的大数据

Laura J. van 't VeerLaura 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 展示会场的欢迎酒会与观看海报

6:30 第一天结束


第1天 | 第2天 | 第3天

6月23日(二)

7:00 am 早餐发表会或早安咖啡


基因体学导引癌症照护

8:00 主席致词

Nathaniel Pearson, Ph.D., Senior Director, Scientific Engagement & Public Outreach, New York Genome Center


8:05 专题演讲:CIViC ― 癌症变异的临床解释

MalachiGriffithMalachi 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 利用DNA重组技术鉴别非小细胞肺癌的独立原发性肿瘤与肺内转移

GeorgeVasmatzisGeorge 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 基因定序在个性化乳癌预防中所扮演的角色

WeivaSiehWeiva 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 演讲主题日后公布

David Jackson, Ph.D., Chief Innovation Officer, Molecular Health

9:50 赞助商发表

10:05 在展示会场休息与观看海报

10:45 结合遗传学与表观遗传学的数据,进而了解前列腺癌的遗传风险

BogdanPasaniucBogdan 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 循环肿瘤DNA经由深度测序的超灵敏侦测

MaxDiehnMaximilian 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.


Genospace11:45 演讲主题日后公布

12:15 pm 休息

12:30 午餐发表会或各自午餐


了解「健康」

2:00 主席致词

Malachi Griffith, Ph.D., Associate Director, The Genome Institute; Assistant Professor, Genetics, Washington University School of Medicine

2:05 全基因体定序作为生涯健康资源的方法

SekWonKongSek 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 全世界最老人瑞的全基因体定序

KristenFortneyKristen 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 赞助商发表

3:35 在展示会场休息与观看海报

4:15 了解临床检体的深度总体基因体测序

ArunRawatArun 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 利用生殖细胞基因体学促进个人健康

JohnWitteJohn 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 双向小组讨论

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 第二天结束


第1天 | 第2天 | 第3天

6月24日(三)

7:00 am 早餐发表会或早安咖啡


临床定序:是合适的投资吗?

8:00 主席致词

Katherine Tynan, Ph.D., Business Development & Strategic Consulting for Diagnostics Companies, Tynan Consulting LLC

8:05 评估次世代定序附加研究成果的成本效能分析

CarolineBennetteCaroline 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 大型儿童医院的基因/精密医疗之个案研究与系列病例报告

StephenKingsmoreStephen 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 带有阻塞性冠状动脉疾病病徵的病患评估:血液检测纳入年龄、性别、基因表现的临床有效性、临床效用、以及经济效用

MarkMonaneMark 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 赞助商发表

10:05 在展示会场休息与观看海报

10:45 临床基因体学的神话与现实

DavidMoskowitzDavid 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 小组讨论:在医疗照护商业模型变动的时代,基因定序服务的偿付

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:
KatherineTynanKatherine Tynan, Ph.D., Tynan Consulting LLC





Panelists:


StephenKingsmoreStephen F. Kingsmore, MB, ChB, BAO, D.Sc., Children's Mercy - Kansas City






DavidMoskowitzDavid W. Moskowitz, M.D., GenoMed, Inc.






Additional Panelists to be Announced




12:00 pm 休息

12:15 午餐发表会或各自午餐


医疗大数据的解析

1:30 主席致词

John E. Mattison, M.D., Chief Medical Information Officer, Assistant Medical Director, Southern California Medical Group, Kaiser Permanente


1:35 专题演讲:数据分析对医疗造成的影响 ― 从创药、基因体学、以及穿戴式设备角度出发

SomaleeDattaSomalee 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 中国具有潜力的临床基因体学应用

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 赞助商发表

3:05 在展示会场休息与观看海报

3:45 PatientsLikeMe:病人报告结果的社群网路与研究平台

MarciaNizzariMarcia 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 专题演讲:癌症大数据分析的ONCOSCAPE应用

EricHollandEric 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 小组讨论:分析与现实:在健康或患病的基因与表型间,那条隐约可见却又模糊不清的界线 ― 实体论与降落区的弦外之音

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:

BeckySwainBecky Swain, Entrepreneur & Founding Member, Cloud Security Alliance






JohnMattisonJohn E. Mattison, M.D., Chief Medical Information Officer, Assistant Medical Director, Southern California Medical Group, Kaiser Permanente





Additional Panelists to be Announced



5:30 年会结束



第1天 | 第2天 | 第3天

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