National Academies Press: OpenBook
« Previous: Front Matter
Suggested Citation:"1 Introduction." Institute of Medicine. 2013. Genome-Based Diagnostics: Demonstrating Clinical Utility in Oncology: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18275.
×

1

Introduction1

The sequencing of the human genome has greatly accelerated the process of linking specific genetic variants with disease. These findings have yielded a rapidly increasing number of molecular diagnostic tests designed to guide disease treatment and management. Many of these tests are aimed at determining the best treatments for specific forms of cancer, making oncology a valuable testing ground for the use of molecular diagnostic tests in medicine in general.

Nevertheless, many questions surround the clinical value of molecular diagnostic tests, and their acceptance by clinicians, payers, and patients has been unpredictable. A major limiting factor for the use of these tests has been the lack of clear evidence of clinical utility. Barriers to the generation of evidence of clinical utility include a lack of consensus among stakeholders regarding both the level of evidence needed to move a test into clinical practice and the acceptable methodologies to collect and validly demonstrate that evidence.

Capturing the benefits of molecular diagnostics will require stakeholders to help shape and define methodologies for efficiently generating reliable information about which tests will improve health outcomes for patients. Sustained dialogue among stakeholders is needed to help close the current

_________________

1 The planning committee’s role was limited to planning the workshop, and the workshop summary has been prepared by the workshop rapporteurs as a factual summary of what occurred at the workshop. Statements, recommendations, and opinions expressed are those of individual presenters and participants, and are not necessarily endorsed or verified by the Institute of Medicine, and they should not be construed as reflecting any group consensus.

Suggested Citation:"1 Introduction." Institute of Medicine. 2013. Genome-Based Diagnostics: Demonstrating Clinical Utility in Oncology: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18275.
×

evidence gaps and foster the development of clinically valuable tests that can inform both clinical and policy decision making.

PRIOR ROUNDTABLE WORKSHOPS

The Roundtable on Translating Genomic-Based Research for Health held two previous workshops examining barriers to the development and use of genomic-based diagnostic tests. At the first workshop, held in November 2010, it became clear, said Robert McCormack, head of technology, innovation, and strategy for Veridex LLC, that multiple stakeholders are involved and that their multiple needs are not always aligned (IOM, 2011a). To move forward, he said, these needs have to be combined and reconciled, which will require dialogue and coordination.

Participants at the 2010 workshop also emphasized the need for rules demonstrating that clinical utility has been achieved, both for future tests and for those in use today. Demonstrating clinical utility is a higher hurdle to meet for diagnostic tests than technical feasibility, analytic validation, or clinical validation, said McCormack. To overcome this hurdle, he argued, the concept of clinical utility needs to be better defined. In addition, the evidence generated and analyzed to demonstrate clinical utility needs to be adapted to the clinical setting, and clinical utility needs to be matched with the indication to make the task manageable.

Finally, McCormack said, the workshop demonstrated that the full picture is much bigger than most stakeholders imagine. The challenge of establishing clinical utility extends throughout the diagnostic discovery and development process, encompassing not only evidence development but also reimbursement and regulatory hurdles. “You cannot just fix one element,” said McCormack. “It all has to come in line for the [system] to work.”

The second workshop, held in November 2011, focused on this broadened landscape and emphasized the many changes needed to develop, regulate, and reimburse for genomic tests (IOM, 2012a). The involvement of providers is essential to creating short- and long-term change by enabling access and demonstrating value for genomic tests, McCormack said. At the same time, payers are the most important stakeholder in changing the overall climate for tests. The venture capital perspective was a “sobering” example at the workshop, according to McCormack. Venture investment in biotechnology has decreased precipitously over the last 10 years, and it is apparent, said McCormack, that in order for venture capitalists to continue investing their dollars in the United States, they will “need to see a seamless path from FDA [U.S. Food and Drug Administration] to CMS [Centers for Medicare & Medicaid Services] to the private payer. Until they see that, they are taking their money offshore.” In addition, many participants at the

Suggested Citation:"1 Introduction." Institute of Medicine. 2013. Genome-Based Diagnostics: Demonstrating Clinical Utility in Oncology: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18275.
×

workshop called for greater oversight by the FDA of genomic test development, particularly for laboratory-developed tests (LDTs), though this call was not unanimous.

THE CURRENT EFFORT

On May 24, 2012, the Roundtable on Translating Genomic-Based Research for Health and the Center for Medical Technology Policy cohosted a workshop in Washington, DC, to foster the identified need for further sustained dialogue between stakeholders regarding the clinical utility of molecular diagnostics. Titled Evidence for Clinical Utility of Molecular Diagnostics in Oncology, the workshop brought together a wide range of stakeholders, including patients, health care providers, policy makers, payers, diagnostic test developers, researchers, and guideline developers, to identify the challenges and opportunities in advancing the development and use of molecular diagnostic tests designed to guide the treatment and management of patients with cancer.2Box 1-1 lists the goals of the workshop.

BOX 1-1
Workshop Goals

  • Assess the evidentiary requirements for clinical utility of molecular diagnostics used to guide treatment decisions for patients with cancer.
  • Discuss methodologies, including innovative models, related to demonstrating these evidentiary requirements that meet the needs of all stakeholders.
  • Consider innovative, sustainable research collaborations for generating evidence of clinical utility involving multiple stakeholders.

This summary document describes the presentations and rich discussions that occurred at the workshop. Chapter 2 establishes a framework for the discussion by examining the history and broad issues associated with the development and use of molecular tests in oncology, the challenges that requiring clinical utility evidence generation for molecular tests poses, the potential impact molecular diagnostics could have on medicine, and the difficulties in establishing evidence standards that satisfy all stakeholders. Chapter 3 presents the perspectives of five different stakeholder groups—clinical guideline developers, health care providers, payers, aca-

_________________

2 The workshop agenda, speaker biographical sketches, full statement of task, and registered attendees can be found in Appendixes A-D.

Suggested Citation:"1 Introduction." Institute of Medicine. 2013. Genome-Based Diagnostics: Demonstrating Clinical Utility in Oncology: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18275.
×

demic health systems, and patients—demonstrating both the commonalities and differences in their positions. Chapter 4 looks at the tools that have been and are being developed for use in assessing clinical utility, including a recommended framework for evaluating omics-based tests, comparative-effectiveness research, randomized controlled clinical trials, and observational studies. This chapter also provides considerations for determining whether a test is useful from statistical and economic perspectives. Chapter 5 examines possible paths forward to apply those tools to the many challenging issues associated with the use of molecular tests in medicine. The role of establishing successful partnerships to overcome challenges encountered during test development and the importance of the availability of biospecimens and data are discussed. This final chapter also provides a summary of the proposals suggested by individual speakers to advance the development of clinical utility measures for molecular diagnostics.

Suggested Citation:"1 Introduction." Institute of Medicine. 2013. Genome-Based Diagnostics: Demonstrating Clinical Utility in Oncology: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18275.
×
Page 1
Suggested Citation:"1 Introduction." Institute of Medicine. 2013. Genome-Based Diagnostics: Demonstrating Clinical Utility in Oncology: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18275.
×
Page 2
Suggested Citation:"1 Introduction." Institute of Medicine. 2013. Genome-Based Diagnostics: Demonstrating Clinical Utility in Oncology: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18275.
×
Page 3
Suggested Citation:"1 Introduction." Institute of Medicine. 2013. Genome-Based Diagnostics: Demonstrating Clinical Utility in Oncology: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18275.
×
Page 4
Next: 2 Setting the Context »
Genome-Based Diagnostics: Demonstrating Clinical Utility in Oncology: Workshop Summary Get This Book
×
Buy Paperback | $38.00 Buy Ebook | $30.99
MyNAP members save 10% online.
Login or Register to save!
Download Free PDF

Genome-Based Diagnostics: Demonstrating Clinical Utility in Oncology is the summary of a workshop convened in May 2012 by the Roundtable on Translating Genomic-Based Research for Health and the Center for Medical Technology Policy of the Institute of Medicine to foster the identified need for further sustained dialogue between stakeholders regarding the clinical utility of molecular diagnostics. The workshop brought together a wide range of stakeholders, including patients, health care providers, policy makers, payers, diagnostic test developers, researchers, and guideline developers, to identify the challenges and opportunities in advancing the development and use of molecular diagnostic tests designed to guide the treatment and management of patients with cancer.

The sequencing of the human genome has greatly accelerated the process of linking specific genetic variants with disease. These findings have yielded a rapidly increasing number of molecular diagnostic tests designed to guide disease treatment and management. Many of these tests are aimed at determining the best treatments for specific forms of cancer, making oncology a valuable testing ground for the use of molecular diagnostic tests in medicine in general. Nevertheless, many questions surround the clinical value of molecular diagnostic tests, and their acceptance by clinicians, payers, and patients has been unpredictable. A major limiting factor for the use of these tests has been the lack of clear evidence of clinical utility. Genome-Based Diagnostics assesses the evidentiary requirements for clinical utility of molecular diagnostics used to guide treatment decisions for patients with cancer; discusses methodologies related to demonstrating these evidentiary requirements that meet the needs of all stakeholders; and considers innovative, sustainable research collaborations for generating evidence of clinical utility involving multiple stakeholders.

  1. ×

    Welcome to OpenBook!

    You're looking at OpenBook, NAP.edu's online reading room since 1999. Based on feedback from you, our users, we've made some improvements that make it easier than ever to read thousands of publications on our website.

    Do you want to take a quick tour of the OpenBook's features?

    No Thanks Take a Tour »
  2. ×

    Show this book's table of contents, where you can jump to any chapter by name.

    « Back Next »
  3. ×

    ...or use these buttons to go back to the previous chapter or skip to the next one.

    « Back Next »
  4. ×

    Jump up to the previous page or down to the next one. Also, you can type in a page number and press Enter to go directly to that page in the book.

    « Back Next »
  5. ×

    Switch between the Original Pages, where you can read the report as it appeared in print, and Text Pages for the web version, where you can highlight and search the text.

    « Back Next »
  6. ×

    To search the entire text of this book, type in your search term here and press Enter.

    « Back Next »
  7. ×

    Share a link to this book page on your preferred social network or via email.

    « Back Next »
  8. ×

    View our suggested citation for this chapter.

    « Back Next »
  9. ×

    Ready to take your reading offline? Click here to buy this book in print or download it as a free PDF, if available.

    « Back Next »
Stay Connected!