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

TCGC: The 4th Annual Clinical Genome Conference 2015
- TCGC:第4屆臨床基因年會 2015年 -
2015年6月22 - 24日
美國,加州,舊金山,Hotel Kabuki

隨著次世代定序平台的可信度、強健度、以及再現性已經不再受到懷疑,基因體學邁入臨床實務也成為勢不可擋的現實。然而要將基因體知識成功轉植到臨床實用上仍有許多挑戰。

第四屆Bio-IT World and Cambridge Healthtech Institute很榮幸地再次舉辦TCGC: The Clinical Genome Conference,邀集了在臨床基因領域具有影響力的利害關係人,分享推動臨床基因藥物應用的新發現與解決方案。


議程

第1天 | 第2天 | 第3天

6月22日(一)


9:00 am 短期課程報到手續與早安咖啡

10:00 am-1:00 pm 短期課程


2:00 年會報到開始

3:00 主席致開幕歡迎詞

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


主題演講

3:15 從鑰匙孔到基因夢幻樂園:常識、超越不尋常的胡鬧

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 結合預防醫學與個人化醫療的原則以改善健康

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 轉譯癌症基因體學的大數據

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 展示會場的歡迎酒會與觀看海報

6:30 第一天結束


第1天 | 第2天 | 第3天

6月23日(二)

7:00 am 早餐發表會或早安咖啡


基因體學導引癌症照護

8:00 主席致詞

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


8:05 專題演講:CIViC – 癌症變異的臨床解釋

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重組技術鑑別非小細胞肺癌的獨立原發性腫瘤與肺內轉移

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 基因定序在個人化乳癌預防中所扮演的角色

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 演講主題日後公布

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

9:50 贊助商發表

10:05 在展示會場休息與觀看海報

10:45 結合遺傳學與表觀遺傳學的數據,進而了解前列腺癌的遺傳風險

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 循環腫瘤DNA經由深度測序的超靈敏偵測

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 演講主題日後公布

12:15 pm 休息

12:30 午餐發表會或各自午餐


了解「健康」

2:00 主席致詞

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

2:05 全基因體定序作為生涯健康資源的方法

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體定序

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 贊助商發表

3:35 在展示會場休息與觀看海報

4:15 了解臨床檢體的深度總體基因體測序

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 利用生殖細胞基因體學促進個人健康

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 雙向小組討論

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 第二天結束


第1天 | 第2天 | 第3天

6月24日(三)

7:00 am 早餐發表會或早安咖啡


臨床定序:是合適的投資嗎?

8:00 主席致詞

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

8:05 評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 大型兒童醫院的基因/精密醫療之個案研究與系列病例報告

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 帶有阻塞性冠狀動脈疾病病徵的病患評估:血液檢測納入年齡、性別、基因表現的臨床有效性、臨床效用、以及經濟效用

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 贊助商發表

10:05 在展示會場休息與觀看海報

10:45 臨床基因體學的神話與現實

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 小組討論:在醫療照護商業模型變動的時代,基因定序服務的償付

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 午餐發表會或各自午餐


醫療大數據的解析

1:30 主席致詞

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


1:35 專題演講:數據分析對醫療造成的影響 – 從創藥、基因體學、以及穿戴式設備角度出發

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 中國具有潛力的臨床基因體學應用

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 贊助商發表

3:05 在展示會場休息與觀看海報

3:45 PatientsLikeMe:病人報告結果的社群網路與研究平台

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 專題演講:癌症大數據分析的ONCOSCAPE應用

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 小組討論:分析與現實:在健康或患病的基因與表型間,那條隱約可見卻又模糊不清的界線 – 實體論與降落區的弦外之音

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 年會結束



第1天 | 第2天 | 第3天

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