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Suggested Citation:"4 Patients." Institute of Medicine. 2012. Genome-Based Diagnostics: Clarifying Pathways to Clinical Use: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/13359.
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4

Patients

Important Points Highlighted by the Speaker

•    Varying claims about the usefulness of genomic tests can be extremely confusing to patients.

•    People with cancer need ways to get their questions answered by health care providers at the point of clinical decision making.

•    Severe illnesses may require different rules and guidelines than less severe illnesses.

•    Conversations regarding the development of new diagnostic tests should begin with the needs of the patient, not with how to get reimbursed for a test or treatment.

The National Coalition for Cancer Survivorship (NCCS) was founded in 1986 to advocate for quality cancer care. It is survivor led—its bylaws require that a majority of the board of directors have a personal cancer diagnosis—and it has created and promoted the language of “cancer survivorship” as an alternative to “patient” or “victim.”

Mark Gorman of NCCS noted that cancer survivors have rising expectations with respect to genomic and other tests. They see these technologies as potentially guiding them toward more effective treatment and reducing the time they spend on ineffective therapies. However, they do not under-

Suggested Citation:"4 Patients." Institute of Medicine. 2012. Genome-Based Diagnostics: Clarifying Pathways to Clinical Use: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/13359.
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stand the complexity of genomic tests and there is confusion about their true usefulness.

POLICY POSITIONS

NCCS has adopted several specific positions on matters involving genomic diagnostic tests. It supports vigorous FDA oversight of these tests but with the recognition that a clearly defined regulatory pathway is needed, especially for companion diagnostics. The main concern is that uncertainty in the current regulatory environment will lead to inefficiency and slow progress. NCCS is also very concerned about finding ways for people with cancer to get their questions answered by health care providers at the point of clinical decision making. Cancer treatment planning is a very complex process that is becoming even more complex. People need information and time to understand the implications of the choices they are offered.

ISSUES OF CONCERN

Cancer care is at the forefront of the development and use of genomic diagnostic technologies, said Gorman. As a cancer survivor, he wants these diagnostic tests to reduce uncertainty and help in the management of resources. This requires coordinated care and a full understanding of the use and implications of these tests by care providers. Many people seek out second opinions, and it is not uncommon for the pathologist at a second cancer center to have a different conclusion from the initial diagnosis. Questions then arise as to whether the pathology has been correctly interpreted and whether a patient might have to face repeat tests and costs. Without trust in the entire care team to properly advise a patient’s treatment, this may prove to be a significant obstacle for moving these new technologies forward.

Severe illnesses may be different from less threatening illnesses with regard to testing and may require different rules, Gorman pointed out.

If investigational interventions begin to enter clinical practice, the subject of that intervention should know that information, Gorman said. This knowledge will temper expectations and may affect choices. However, if this is a pathway that is used, then the interventions should be done in a manner that will generate evidence. Collection of evidence does not need to be through a randomized controlled trial, but it should be systematic, he said. Gorman warned, though, that use of the investigational system needs to be properly vetted to avoid setbacks that can undermine patient trust, harm the field, and delay progress. Third-party oversight may be useful in this regard.

Suggested Citation:"4 Patients." Institute of Medicine. 2012. Genome-Based Diagnostics: Clarifying Pathways to Clinical Use: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/13359.
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Finally, Gorman pointed out that cancer survivors have become very frustrated with conversations about how to bring the best care models and goals to widespread use that begin with the question, How can it be paid for? “Personally, I prefer a dialogue that begins with the question, ‘What do patients and cancer survivors need?’ Then we move on to the questions of how can incentives be aligned to realize it.”

Suggested Citation:"4 Patients." Institute of Medicine. 2012. Genome-Based Diagnostics: Clarifying Pathways to Clinical Use: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/13359.
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Suggested Citation:"4 Patients." Institute of Medicine. 2012. Genome-Based Diagnostics: Clarifying Pathways to Clinical Use: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/13359.
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Suggested Citation:"4 Patients." Institute of Medicine. 2012. Genome-Based Diagnostics: Clarifying Pathways to Clinical Use: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/13359.
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Suggested Citation:"4 Patients." Institute of Medicine. 2012. Genome-Based Diagnostics: Clarifying Pathways to Clinical Use: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/13359.
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Suggested Citation:"4 Patients." Institute of Medicine. 2012. Genome-Based Diagnostics: Clarifying Pathways to Clinical Use: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/13359.
×
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The sequencing of the human genome and the identification of associations between specific genetic variants and diseases have led to an explosion of genomic-based diagnostic tests. These tests have the potential to direct therapeutic interventions, predict risk or onset of disease, or detect residual disease. As research progresses and an increasing number of associations are found, further tests will be developed that can aid in providing personalized treatment options for patients. However, the adoption of genomic diagnostic tests by health care providers has been limited due to a lack of evidence regarding the clinical utility of many tests. Health funders and practitioners lack the data necessary to distinguish which tests can improve practice or the clinical settings in which tests will provide the greatest value. The Roundtable on Translating Genomic-Based Research for Health held a workshop in November 2010 to determine what evidence is needed and how it is viewed by different stakeholders in order to develop genomic diagnostic tests of clinical value.

Genome-Based Diagnostics summarizes the presentations and discussions that took place throughout the workshop. Two presentations, in particular, sparked extensive discussion. One presentation proposed that all genomic diagnostic tests be reviewed and approved by the Food and Drug Administration. The other observed that venture capitalists are no longer investing substantially in the development of genomic diagnostic tests because of a lack of clarity surrounding regulatory and reimbursement pathways. Both presentations suggested the need for major changes in the systems used to develop, regulate, and reimburse genomic diagnostic tests. The report also presents the perspectives of different stakeholders in the development of genomic diagnostic tests. Each stakeholder group has a different set of needs and issues of importance, yet commonalities among them are apparent, such as the need to put patients and health outcomes at the center of discussion and action.

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