( ポリメラーゼ連鎖反応と次世代シーケンシングをベースにした分子診断 )

Advances in molecular diagnostics technologies have sparked innovation, expanded research capabilities, and enhanced clinical diagnostics. Cambridge Healthtech Institute’s Sixth Annual PCR and NGS-Based Molecular Diagnostics symposium puts an emphasis on the NGS and PCR technologies that drive precision medicine and showcases how they are being used to alter clinical outcomes. This event will provide a comprehensive look at integrating molecular diagnostics solutions for biomarker discovery and development, point-of-care, and infectious disease. Overall, this event provides insight into advanced techniques and tools for effective disease diagnosis, and a look towards future amplification and sequencing technologies.

Final Agenda

Thursday, March 14

7:00 am Registration Open and Morning Coffee

ポリメラーゼ連鎖反応とポイントオブケア分子診断の新たな手法

8:25 Chairperson’s Opening Remarks

Carl Wittwer, MD, PhD, Professor, Pathology, University of Utah School of Medicine

8:30 Making Molecular Diagnostics Faster

Carl Wittwer, MD, PhD, Professor, Pathology, University of Utah School of Medicine

Extreme PCR and high-speed melting analysis (HSM) can make molecular diagnostics faster. Real-time PCR can be performed in as little as 15 seconds (35 cycles of PCR for a 60 bp human genomic DNA). High-speed melting analysis for variant scanning and genotyping requires less than 10s. These techniques can be combined, providing a path forward toward rapid sample-to-answer molecular solutions.

9:00 Q-POC – Molecular Diagnostics Point of Care 2.0

Jonathan O’Halloran, CSO and Co-Founder, QuantuMDx

QuantuMDx has developed a novel, low-cost sample to answer molecular diagnostics device aimed at both low and high resource settings. The device performs both qPCR and end-point PCR followed by a microarray, all within a single ultra-low-cost disposable. The company’s first assay is an HPV assay, due for launch in Q1 2020, that individually genotypes 13 high-risk sub-types of the virus, directly from a swab sample in under 30 minutes.

9:30 More with Less: Novel Approaches to LAMP Assay Design for Better Performance with Fewer Resources

Robert Meagher, PhD, Research Scientist, Sandia National Laboratories

LAMP is a promising alternative to PCR for point-of-care molecular diagnostics but has been plagued by a reputation for complex primer design, and high rates of non-specific amplification and false positive detection. We present approaches to improving LAMP primer design to reduce non-specific amplification, as well as improvements to the detection chemistry that extends the performance of simple detectors such as smartphone cameras for use in low-resource settings with inexpensive equipment.

10:00 Sponsored Presentation (Opportunity Available)

10:30 Coffee Break in the Exhibit Hall with Poster Viewing

ポリメラーゼ連鎖反応をベースにした臨床診断

11:15 Clinical Impact of Multiplexed Respiratory Pathogen Panels

Esther Babady, PhD, Director, Microbiology Service Operation, Memorial Sloan Kettering Cancer Center

This talk will review commercially available multiplexed respiratory pathogen panels and discuss their utility and impact on clinical management of various patient populations including pediatric patients and immunocompromised patients.

11:45 Epigenetic Immune Cell Quantification - A Novel Approach to Molecular Immune Cell Diagnostics

Christoph Sachsenmaier, PhD, Vice President, Strategic Business Development, Epimune GmbH, Germany

Epigenetic Immune Cell Quantification allows DNA-based immune cell profiling from a drop of blood (fresh, frozen or dried). This approach offers broad applicability in clinical settings were a fresh blood sample is difficult or impossible to obtain in sufficient quantity and quality (e.g. newborns, near-patient testing, under-developed regions).

12:15 pm Sponsored Presentation (Opportunity Available)

12:30 Session Break

12:40 Luncheon Presentation to be Announced

1:15 Session Break

次世代シーケンシングをベースにしたアッセイの進歩

1:55 Chairperson’s Remarks

Robert Schlaberg, MD, MPH, CMO, IDbyDNA, Inc.; Assistant Professor, Pathology, University of Utah

2:00 Using NGS to Improve Diagnostic Tests for Infectious Diseases

Robert Schlaberg, MD, MPH, CMO, IDbyDNA, Inc.; Assistant Professor, Pathology, University of Utah

Advances in next-generation sequencing technology and computer science are fueling a paradigm shift in laboratory testing for infectious diseases. Shotgun metagenomics-based approaches are now being used in diagnostic laboratories to provide universal pathogen detection and improved diagnostic yield for syndromic testing. Latest laboratory protocols and data analysis tools allow processing of samples and complete data analysis within ~24 hours. Enabling earlier etiologic diagnosis will improve effective treatment and reduce morbidity and mortality.

2:30 Practical Considerations in the Deployment of NGS-Based Clinical Trial Assays

Saumya Pant, PhD, Head, Genetics and Genomics Team, Bristol-Myers Squibb

3:00 Sponsored Presentation (Opportunity Available)

3:30 Refreshment Break and Poster Competition Winner Announced in the Exhibit Hall

4:15 Microbiome - Why Not Leverage ALL the Hypervariable Regions?

Seth D. Crosby, MD, Director, Research Collaborations, Department of Genetics, Washington University School of Medicine

MVRSION is a wet/dry system which exploits eight of nine 16S hypervariable regions. We use Fluidigm Juno to amplify and index these regions in up to 192 samples per run. These are sequenced and analyzed in parallel, using the MVRSION computational protocol. Both accuracy and economy exceed other methods, such as QIIME.

4:45 Detection of CNVs Associated with Hearing Loss: Clinical ddPCR and NGS-Based CNV Assays

Heather Mason-Suares, PhD, Assistant Professor, Pathology, Brigham & Women’s Hospital and Harvard Medical School; Associate Laboratory Director, Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

Hearing loss affects ~3/1000 newborns, with genetic causes accounting for ~50% of cases. Often, clinical test results demonstrate one disease-causing variant, making it unclear if they are a coincidental carrier or if that variant is contributing to their disease. Here, we describe our approach to detect CNVs on the other allele by NGS-based CNV detection and ddPCR analysis.

5:15 PANEL DISCUSSION: Advancing Next-Generation Sequencing in the Clinic

Moderator: Saumya Pant, PhD, Head, Genetics and Genomics Team, Bristol-Myers Squibb

Panelists:

Esther Babady, PhD, Director, Microbiology Service Operation, Memorial Sloan Kettering Cancer Center

Seth D. Crosby, MD, Director, Research Collaborations, Department of Genetics, Washington University School of Medicine

Robert Schlaberg, MD, MPH, CMO, IDbyDNA, Inc.; Assistant Professor, Pathology, University of Utah

This discussion will address the following topics:

  • Current hurdles in utilizing NGS technologies in the clinic
  • Utility of integrated or compound biomarker approaches
  • Regulatory considerations

5:45 Reception in the Exhibit Hall with Poster Viewing

6:45 Close of Day

Friday, March 15

8:00 am Registration Open and Morning Coffee

次世代シーケンシングに対する保険者の医療技術評価

8:25 Chairperson’s Remarks

Ammar QadanAmmar Qadan, Vice President, Global Market Access, Illumina


8:30 PANEL DISCUSSION: Payer Health Technology Assessment (HTA) of NGS: Are Current HTA Frameworks Aligned with NGS Technology Evolution?

Moderator: Ammar Qadan, Vice President, Global Market Access, Illumina

Panelists: Jim Almas, MD, President, JPA Pathology

Brock Schroeder, PhD, Director, Health Economic and Outcomes Research at Illumina

Additional Panelists to be Announced

Over the last decade, genetic testing to inform precision medicine has evolved from the use of single-gene tests to more complex tests that measure multiple genes, the entire exome (coding region of the genome) or the entire genome using next-generation sequencing (NGS) technology. As the cost of NGS technology has decreased and NGS-based tests are increasingly being incorporated into clinical patient care, health insurance companies, health technology assessment organizations, and governments must assess the clinical and economic value of NGS-based tests. In the last few years, there has been an emerging consensus that conventional frameworks used by payers to assess the value of new drugs are not well suited for evaluating the value of genomic testing.

This panel specifically focuses on assessing the value of NGS-based clinical testing. While it’s critical to assess the value of NGS, there are many methodological challenges to doing so. This panel discussion pushes the envelope by not only highlighting the challenges, but by suggesting innovative solutions to move the value assessment process forward for precision medicine. The panel will incorporate a wide range of perspectives, topics and case studies – but they all focus on the overarching issue of proposing new methodologies to assess the value of NGS-based technologies in clinical care. The proposals included are not intended only for health economic researchers, but also to other stakeholders including health technology assessment organizations, payers, clinical researchers, diagnostic, biotechnology and pharmaceutical industries.

Topics to be discussed:

  • There is a need to align coverage frameworks and what is defined as “Medical Necessity” with the features of NGS technology.
  • Further adaptation of the coverage framework for NGS and other genomic tests may help to facilitate a better suited assessment of future genomics innovations.
  • There are potential solutions for adapting the coverage framework relevant to NGS.

10:00 Sponsored Presentation (Opportunity Available)

10:30 Coffee Break in the Exhibit Hall with Poster Viewing

ポイントオブケア分子診断

11:15 Molecular Diagnostics at the Point of Care

Haim H. Bau, PhD, Professor, Mechanical Engineering & Applied Mechanics, University of Pennsylvania

We describe a two-stage, multiplexed isothermal assay and an inexpensive, simple, rapid platform for molecular detection of pathogens at the point of care. Our system isolates, concentrates, amplifies, detects, and quantifies target nucleic acids and interfaces with a smartphone for sensing, data analysis, and communications. We have successfully tested our assay with samples of Zika virus patients in Panama. We are now expanding the platform to enable detection of a plethora of vector-borne infections.

11:45 Smart and Connected Point-of-Care Molecular Diagnostics

Changchun Liu, PhD, Associate Professor, Biomedical Engineering Department, University of Connecticut

Smartphones have a growing and pervasive influence on our daily life. Especially with the rapid development of microfluidics technology, the incorporation of microfluidics technology with smartphone-based detection technology will create a new paradigm shift towards affordable, mobile, personalized health monitoring. In this talk, I will introduce our molecular diagnostic chips, smart connected devices and their applications in cervical cancer screening and infectious disease detection at the point of care.

12:15 pm Point-of-Care Molecular Testing for Infectious Diseases via Inexpensive Devices

Season Wong, PhD, President & Co-Founder, AI Biosciences

We are pursuing the development of low-cost rapid molecular diagnostics to identify the infectious disease agents at the point-of-care.These devices must be low-cost, portable, and easy to use. We will describe our approaches that isolate, amplify, and detect target nucleic acids from patient samples. Examples of POC detection of Chlamydia trachomatis, Neisseria gonorrhoeae, and Zika virus will be given.

12:45 Close of Symposium

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2019/02/25
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2019/02/13
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2019/02/01
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