GenomeQuest and Cambridge Healthtech Associates Report on Landmark Genomic Interpretation Study


GenomeQuest and Cambridge Healthtech Associates Report on Landmark Genomic Interpretation Study
I-Study Organizers Release Report; Launch First Think Tank Discussion on "Weaving the Genome into Integrated Care and the EHR"
BOSTON--Today, GenomeQuest™ and Cambridge Healthtech Associates™ reported on their healthcare industry calibration study on genomic interpretation (I-Study: Genomic Interpretation™ – Who will pay, what is needed and how to mobilize? A Landmark Study in Genomic Interpretation to Identify How to Break Through to a Future of Across-the-Board Personalized Medicine).
This first-of-its kind calibration study on genomic interpretation surveyed over 55 industry leaders across twelve healthcare segments. Interview transcripts were reviewed by a panel of experts representing all disciplines key to incorporating genomic interpretation into patient care. The panel developed a comprehensive set of findings (common challenges faced across the industry) and recommendations (proposed solutions or action plans).
"At the 2011 Personalized Medicine Conference held November 9-10 at Harvard Medical School, Boston, MA, 80% of attendees voted interpretation as the top strategic challenge in genomic sequencing. Advancing day-to-day genomic interpretation across the complex $5 trillion healthcare industry will require close collaboration – a network effect in genomics," said GenomeQuest Chief Marketing Officer Tony Flynn and I-Study co-director. "We developed the I-Study to determine how well we are all calibrated in our related plans and efforts, identify areas of alignment or misalignment, and offer recommendations to improve collaboration and accelerate the application of genomics in healthcare."
Participants were scientific, medical and business leaders across the following sectors: pharmaceuticals, contract research organizations (CROs), academic labs, commercial labs, diagnostic companies, decision support (software) suppliers, healthcare providers, sequencing providers, healthcare equipment makers, care management, healthcare IT, and payers.
"Advancing genomic interpretation is fundamental to delivering the promise of personalized medicine and requires the collaboration of stakeholders among government, academe and the private sector," said Raju Kucherlapati, Ph.D., chair of the personalized medicine conference, and Paul C. Cabot, Professor of Genetics, Professor of Medicine, Harvard Medical School. "It was a pleasure to participate in the I-Study from inception through the review panel. It's surely a significant body of work that engaged a broad array of leaders and identified key opportunities for harmonizing our efforts and hastening our advance."
Panel members and their area of expertise included:
Scientific: Kevin Davies, Ph.D., editor, Bio-IT World; author, The $1,000 Genome
Medical: Raju Kucherlapati, Ph.D., Harvard Medical School
IT and Content: Richard Resnick, CEO, GenomeQuest
Business Model: Dawn Van Dam, General Manager, Cambridge Healthtech Associates
Financial: Brian Atwood, Managing Director, Co-Founder, Versant Ventures
Payer: John Edwards, Director, Health Economic Studies, PricewaterhouseCoopers
The study revealed three major calibration themes in advancing genomics into healthcare:
Settling the Question: Who Will Pay?
Maturing the Required Technologies
Mobilizing the Ecosystem to Deliver Personalized Medicine
A report on the I-Study findings and recommendations can be downloaded at
I-Study: Genomic Interpretation™ – Who will pay, what is needed and how to mobilize? is pleased to have the support of the Personalized Medicine Coalition.
Continuing the Conversation: I-Study Think Tank Discussion Series
"The premise of the I-Study: Genomic Interpretation – Who Will Pay? was confirmed by the overwhelming interest across the industry – we had high-level participation from scientific, medical and business leaders. All strongly agreed with the premise, were eager to share and learn from this community effort and are highly anticipating this report," said Cambridge Healthtech Associates General Manager and I-Study co-director Dawn Van Dam. "As study organizers, we therefore feel a responsibility to ensure that this body of shared knowledge lives on in the real world. To further this effort, we are developing a series of I-Study 'Think Tanks' to help drive the I-Study recommendations."
The I-Study Think Tank series will begin in March with the topic "Weaving the Genome into Integrated Care and the EHR." To learn more about the series and register, visit
About GenomeQuest
GenomeQuest is a global provider and consistent pioneer in large-scale genomic software applications. The company serves major pharmaceutical companies, global agriculture firms, biotech firms, IP legal teams, genome centers, academic research centers, diagnostic labs, and universities around the world. More at
About Cambridge Healthtech Associates™ (CHA)
Cambridge Healthtech Associates™ (CHA™) leverages its extensive network and unique collaborative model in consulting, technology evaluations and community-based communication services to help clients in the life sciences industry commercialize and penetrate the marketplace to increase revenue. Read more at CHA also manages the online community for genomics, bioinformatics and personalized medicine scientific discussions: NGS Leaders™. Read more at
About the Personalized Medicine Coalition
The Personalized Medicine Coalition (PMC), representing innovators, scientists, patients, providers and payers, promotes the understanding and adoption of personalized medicine concepts, services and products to benefit patients and the health system. For more information about PMC, visit
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