Cambridge Healthtech Institute’s Thirteenth Annual

Molecular Diagnostics

Guidelines for Success

March 7 – 9, 2016 | Moscone North Convention Center | San Francisco, CA
Part of the 23rd International Molecular Medicine Tri-Conference


Molecular diagnostics is poised for significant growth and is driving new markets. Efforts to standardize test development and demonstrate sufficient evidence of clinical utility are critical to the industry so that results can be interpreted reliably and confidently. Yet uncertainty remains around who will be developing guidelines and ensuring proper implementation in healthcare. The demand is growing by consumers, but safeguards need to be put in place and a concerted effort needs to be made to educate the various stakeholders. Join us at the industry leaders networking event to learn guidelines for successful implementation of diagnostics from experts in the field.

Scientific Advisory Board

Edward Abrahams, Ph.D., President, Personalized Medicine Coalition

Alan B. Carter, Consultant, Sales Performance International

Daniel H. Farkas, Ph.D., HCLD, Chief Clinical Laboratory Officer, Celmatix Inc.

Monday, March 7

10:30 am Conference Program Registration Open


11:50 Chairperson’s Opening Remarks: The Diagnostic Dilemma in Inherited and de novo Disease

Elaine Lyon, Ph.D., Medical Director, Molecular Genetics, ARUP (AMP 2014 President and Member, AMP Professional Relations Committee)

The era of genomic medicine is advancing rapidly our ability to identify and interpret sequence variation related to human diseases. New technologies allow generation of large amounts of data, yet the utility of such data is being questioned. We propose that an accurate diagnosis has inherent utility. Cases demonstrating the utility of molecular diagnostics will be presented for inherited and for somatic diseases. Modeling genomic testing paradigms to show health economics benefit will also be described.

12:10 pm DNA Intelligence in the War on Cancer: The Utility of Molecular Genetic Analysis

Loren J. Joseph, M.D., Director, Molecular Diagnostics Lab, Pathology, Beth Israel Deaconess Medical Center (Chair, AMP 2014 Clinical Practice Committee)

The ability to sequence any or all the genes in a cancer is like being able to learn the enemy’s order of battle. The metaphor can be extended- the information changes over time and is sometimes misleading. Even for such a powerful tool it is appropriate to ask if it has shown the value in practice which is expected in theory. This presentation will survey the evidence for several areas of application, especially for next-generation sequencing.

12:30 An Accurate Diagnosis Impacts the Economics of Health

Linda M. Sabatini, Ph.D., HCLD, CC, Director, Molecular Diagnostics, NorthShore University HealthSystem (Member, AMP Economic Affairs Committee)

With the increasing use of advanced nucleic acid sequencing technologies for clinical diagnostics and therapeutics, it has become important to better understand the costs of performing these procedures and the value they provide to patients, providers and payers. The Association for Molecular Pathology invested in a cost and value analysis of specific genomic sequencing procedures. Modeling genomic testing paradigms in comparison to current testing strategies to assess potential health economic benefits will be discussed.


1:00 Session Break

1:15 Luncheon Presentation I: Best Practices for Training and Validation of Gene Expressions Signatures from FFPE Samples

Wesley Buckingham, Manager, Diagnostic Assay Development, NanoString Technologies

Gene expression signatures are emerging as important prognostic and predictive tools for the treatment of cancer. The presentation will discuss best practices for development and validation of gene expression signatures based on NanoString’s experience in developing IVD test kits. Two case studies will be presented: 1) Adaptation of the PAM50 signature to the FDA-cleared Prosigna Breast Cancer Prognostic Gene Signature Assay; 2) Training and development of a companion diagnostic gene expression signature for DLBCL based on the Lymph2Cx signature.

1:45 Luncheon Presentation II: How to Turn a Biomarker into a Clinical Test

Bob Holt, Ph.D., Biomarker Services Manager, Hologic Ltd

Overview of the process used by a Dx company to develop a biomarker based Dx product. Focus on the development paths of LDT, CE and FDA IVD products. The presentation will emphasise the importance of decisions made in the initial stage of development which are critical to the success of a Dx development program.

2:15 Session Break

CPT ARMAGEDDON TWO YEARS LATER: Are Patient Pay Models Working?

2:30 Chairperson’s Remarks

Daniel H. Farkas, Ph.D., HCLD, Chief Clinical Laboratory Officer, Celmatix, Inc.

2:35 CPT Armageddon Two Years Later: Are the New Codes Working?

Victoria M. Pratt, Ph.D., FACMG, Director, Pharmacogenomics Laboratory, Medical and Molecular Genetics, Indiana University School of Medicine

With the completion of the Human Genome Project and increased understanding of the genes involved in human disease and cancer biology, clinical molecular testing has grown by leaps and bounds. At the request of payers, the American Medical Association (AMA) developed a new CPT coding system for molecular pathology that was implemented in 2013. This session will review the Molpath CPT coding system and issues around reimbursement.

2:50 Decoding Fertility

Piraye Y. Beim, Ph.D., Founder & CEO, Celmatix, Inc.

It is well established that environmental exposures, starting in utero, and spanning into later life impact an individual’s overall reproductive potential. The genetic contributions, however, have been less clear. A growing body of evidence suggests that fertility potential, and how environmental exposures and age impact it, are genetically hard-coded. This information holds the potential to revolutionize reproductive medicine and empower individuals to proactively manage and maximize their fertility potential.

3:05 23andMe: A Decade of Consumer Genomics

Jill Hagenkord, M.D., CMO, 23andMe

Several forces are at play in molecular diagnostics that are seeding a consumer genomics market, including changes in coding, coverage, reimbursement, regulation, and policy. New analyte-specific CPT codes are resulting in more payment denials due to a perceived lack of clinical utility by the payer community. Preventative health, carrier testing, or testing of at risk family members are statutorily excluded from CMS. Consumers and patients still value this information and technology advances enables consumer-priced and accessible genomic information.

3:20 Enabling Patient Access to Breast Cancer Genomic Risk Panels

Elad Gil, Ph.D., CEO, Color Genomics

What are the major obstacles for patients to access genetic testing today? How can these obstacles be removed, while maintaining and ensuring proper care for patients? Learn about the applications of software and web-based services to support providers and enable population-scale access to genomics by patients.


4:10 Beyond SNVs: Comprehensive Variant Detection in Circulating cfDNA
Mark Li, CEO, Resolution Bioscience, Inc.
Cancer is complex. In order to realize the full potential of blood-based genotyping, liquid biopsy assays must move beyond single nucleotide variants and short indels to include fusions and copy number variations. Data will be presented demonstrating the ability of the clinical-grade ctDx™ platform and it's ability to provide a complete, real-time tumor genotype, including gene partner agnostic fusion detection. While analytical and clinical validation are critical, additional commercialization and regulatory challenges remain in bringing NGS-based assays to patients and clinicians.

4:40 Refreshment Break and Transition to Plenary Session

5:00 Plenary Keynote Session

6:00 Grand Opening Reception in the Exhibit Hall with Poster Viewing

7:30 Close of Day

Tuesday, March 8

7:00 am Registration Open and Morning Coffee

8:00 Plenary Keynote Session

9:00 Refreshment Break in the Exhibit Hall with Poster Viewing


10:05 Chairperson’s Remarks

Edward Abrahams, Ph.D., President, Personalized Medicine Coalition


10:15 KEYNOTE PRESENTATION: Clinical Deployment of Personalized Medicine - Successes and Challenges
A. Keith Stewart, M.B., Ch.B., Carlson and Nelson Endowed Director, Center for Individualized Medicine; Vasek and Anna Maria Polak Professor, Cancer Research, Mayo Clinic

10:45 15 Years of Personalized Medicine, Can We Move beyond Oncology?

Eric Lai, Ph.D., Senior Vice President and Head, Pharmacogenomics, Companion Diagnostics, Takeda Development Centers of America

Despite the complete sequencing of the Human Genome and the development of new molecular technologies, the clinical application of personalized medicine is still mostly limited to Oncology. This presentation will discuss other potential ways of applying pharmacogenomics to drug development and the use of big research datasets to address unmet medical needs to non-oncology areas. In addition, we will discuss major roadblocks for the next 5 years and beyond.

11:00 Talk Title to be Announced

Hakan Sakul, Ph.D., Executive Director & Head, Diagnostics, Worldwide R&D, Pfizer

11:15 Changing Treatment Paradigms

Greg Keenan, M.D., Vice President, Medical Affairs & US Head Medical Officer, AstraZeneca

Dr. Greg Keenan will explore what constitutes a useful companion diagnostic or biomarker, and the considerations for patients beginning or continuing a therapy over time, and exciting potential opportunities to advance medical science in the treatment of lupus, respiratory disease and other non-oncological disease states.


12:15 pm Session Break

Q2 Solutions12:25 Luncheon Presentation: Expanding Treatment Options with Genomics-Enabled Immuno-Oncology

Victor Weigman, Ph.D., Associate Director, Translational Genomics, Q Squared Solutions

Tumor genomic profiling can direct patients to new therapeutic possibilities. Positive responses aside, many patients are left with few treatment options. Genomics can further illuminate the inherently complex tumor microenvironment, with beneficial implications for Immuno-oncology strategies.

12:55 Luncheon Presentation II (Sponsorship Opportunity Available)

1:25 Refreshment Break in the Exhibit Hall with Poster Viewing


2:00 Chairperson’s Remarks

Girish Putcha, M.D., Ph.D., Director, Laboratory Science, Palmetto GBA (MolDX)

2:10 What Clinical Validity and Utility Means for Consumers and Clinicians in the New Era of Genomic Medicine

J. Leonard Lichtenfeld, M.D., MACP, Deputy Chief Medical Officer, American Cancer Society, Inc.

The progress in genomic-based medicine highlights challenges and barriers as we implement the science in a rational way. Clinical validity requires that we have confidence that genomic tests are well understood and demonstrate benefit for patients. Getting the balance right will be difficult and will require the input and collaboration of a number of stakeholders. Failure to do so may limit our ability to achieve the benefits offered by this accelerating knowledge.

2:25 Evidence Required by FDA for Establishing Clinical Validity

Alberto Gutierrez, Ph.D., Director, Office of In Vitro Diagnostics & Radiological Health, FDA CDRH

2:40 Understanding Payer Coverage Policies on Emerging Molecular Diagnostics

Kathryn A. Phillips, Ph.D., Professor, Health Economics and Health Services Research, Clinical Pharmacy; Founding Director, UCSF Center for Translational and Policy Research on Personalized Medicine, University of California, San Francisco

Payer coverage policies are a key component of the success of emerging molecular diagnostics. This presentation will discuss a newly developed registry of payer coverage policies and how it can provide greater understanding of coverage policies.

2:55 What Clinical Utility Means to Medicare

Elaine K. Jeter, M.D., Contractor & Medical Director, Palmetto GBA LLC

Dr. Jeter will provide an overview of what clinical utility means to Medicare coverage and how it is established. She will provide examples of evidence that do and do not meet the minimal standard of clinical utility with regard to diagnostics.


3:40 Controlling Chaos in Oncology Testing

Brian Burke, Business Development Director, Horizon Diagnostics

Please join us, contribute to our workshop and enjoy the discussions:

  • What is the best approach for setting up assays for cfDNA and cfRNA detection?
  • Is NGS the new gold standard for clinical laboratories?
  • Developing and implementing assays for fusion gene constructs; NGS or FISH?
  • What is the impact of assay failure and how do you monitor for it?

4:10 St. Patrick’s Day Celebration in the Exhibit Hall with Poster Viewing

5:00 Breakout Discussions in the Exhibit Hall

These interactive discussion groups are open to all attendees, speakers, sponsors, & exhibitors. Participants choose a specific breakout discussion group to join. Each group has a moderator to ensure focused discussions around key issues within the topic. This format allows participants to meet potential collaborators, share examples from their work, vet ideas with peers, and be part of a group problem-solving endeavor. The discussions provide an informal exchange of ideas and are not meant to be a corporate or specific product discussion.

Recent FDA Feedback, Tips and Trends for IVDs

Gail Radcliffe, President, Consulting, Radcliffe Consulting, Inc.

  • RTA Checklist: tips for jumping over the first hurdle
  • Next-Gen Testing: regulation snafu
  • CLIA Waiver: simple and low risk of erroneous result
  • De Novo: providing rationale to support De Novo classification


6:00 Close of Day

Day 1 | Day 2 | Day 3 | Download Brochure

Wednesday, March 9

7:00 am Registration Open

7:00 Breakfast Presentation (Sponsorship Opportunity Available)
or Morning Coffee

8:00 Plenary Keynote Session Panel

10:00 Refreshment Break and Poster Competition Winner Announced in the Exhibit Hall

Swimming with the Sharks


Back by popular demand is the "Swimming with the Sharks" competition! Companies seeking venture funding will pitch their company's value proposition to a panel of judges and the top place winner will receive recognition as the "2016 Tri-Con Most Promising Company"

Congratulations to the finalists:

  • Genomic Expression
  • Cube Dx GmbH
  • Sandstone Diagnostics
  • AboGen Inc.
  • Xcell Biosciences
  • Nanopore Diagnostics, LLC
  • Correlia Biosystems
  • Tasso, Inc.
  • Luminostics, Inc.
  • NIESM Pty Ltd



  • 10 companies will give 5 minute presentations in the first round of the competition
  • 5 finalists will be chosen to give a 10 minute presentation in the second round of the competition
  • Summary and Award for top start-ups (first and second place) will be presented by panel of judges


Alan B. Carter, Consultant, Sales Performance International

Panel of Judges:

Harry Glorikian, Healthcare Consultant
Stan Rose, Ph.D., CEO, Transplant Genomics
Enrico Picozza, MS, Venture Partner, HLM Venture Partners
Paul D. Grossman, Ph.D., Venture Partner, Telegraph Hill Partners
Chris Heid, Treasurer and Board Member, Berkeley Angel Network

Selection and Coaching Committee:

Chris Heid, Treasurer and Board Member, Berkeley Angel Network
Peter S. Miller, COO, Genomic Healthcare Strategies


10:50 Moderator’s Remarks

Alan B. Carter, Consultant, Sales Performance International

11:00 Part 1: First Round of Competition

5 minute presentations by Contestants

12:30 pm Session Break

12:40 Luncheon Presentation (Sponsorship Opportunity Available)

1:10 Refreshment Break in the Exhibit Hall and Last Chance for Poster Viewing

1:50 Part 2: Second Round of Competition

10 minute presentations by Selected Finalists

3:00 Summary and Award for Top Start-Up Presented by the Judges Panel

3:30 Sponsored Presentation (Opportunity Available)

4:00 Session Break


4:10 Chairperson’s Remarks

J. Marty Tenenbaum, Ph.D., Chairman, Cancer Commons

Realizing the potential of precision medicine requires a global ecosystem that can amass data on hundreds of millions of patients in order to identify the best therapies for increasingly rare molecular diseases. Getting there will require bold business models and innovative technology that encourage data sharing across many stakeholders. Representatives of competing cancer networks propose practical steps for sharing data, slashing costs and accelerating learning to save lives.

  • Benefits and challenges of a global precision oncology ecosystem
  • Review of proprietary ecosystems operated by molecular diagnostic vendors, academics, health systems, entrepreneurs, and nations
  • Cross-industry learning: technologies and business models that facilitate data sharing and integrative analysis
  • The important roles for national healthcare systems, patient advocacy groups, and pre-competitive consortia in catalyzing data sharing
  • What steps can we take today to begin?


Jonathan Hirsch, President & Founder, Syapse

William S. Dalton, Ph.D., M.D., CEO, M2Gen; Director, The DeBartolo Family Personalized Medicine Institute at Moffitt Cancer Center

Piers Mahon, Ph.D., Director, Global Alliances, Cancer Commons 

Brady Davis, Senior Director, Strategy & Market Development, Illumina

Lawrence H. Kushi, Sc.D., Director, Scientific Policy, Division of Research, Kaiser Permanente

Pravin J. Mishra, Ph.D. Director, Precision Medicine & Genomics Core Laboratory, Intermountain Healthcare

5:45 Close of Conference Program