The Value of Genetic and Genomic Technologies Workshop Summary (2010) / Chapter Skim
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4 Genomic Profiling
4 Genomic Profiling
Pages 35-48
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From page 35... ...
In addition to the ethical, legal, and social issues surrounding genomic profiling, questions persist regarding the clinical utility, safety, and cost-effectiveness of genomics-based risk assessment. GENOMIC SCREENING FOR HEALTH RISK ASSESSMENT A number of clinical laboratories offer direct-to-consumer genomic profiling either for risk assessment for common diseases or for carrier status for less common Mendelian disorders.
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From page 36... ...
Her past medical history is notable only for a mildly abnormal glucose tolerance test during her second pregnancy at age 31, which was not medically followed after the pregnancy. Anne prides herself on her careful diet, and she runs on a treadmill at her workplace gym at least three times a week.
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From page 37... ...
PANEL REACTION Genetic Counselor Perspective Janet Williams, a genetic counselor at Intermountain Healthcare, said that the first challenge in working with a patient like Anne is knowing what the SNP results mean in terms of actual clinical risks in the future. A genetic counselor would look at the family history and deal with known risks, such as cancer, diabetes, and coronary artery disease, and any SNP profile results would be considered in this context and also in the context of what can
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From page 38... ...
Most of the risk estimates that can be obtained today through genomic profiling, Witt said, are so minimally useful that a person does not need to be concerned with them. Furthermore, the reported risks are often already being addressed based on family history information.
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From page 39... ...
An argument could be made that a patient perceiving a higher risk would be inspired to do more preventative practices, such as increased breast exams, but the misunderstanding about what the presented risk scores mean could cause significant emotional distress or lead to a demand for screening tests that are not warranted, Witt said. Additionally, there may be little positive value in identifying an increased risk for a disease such as Alzheimer's, for which there are currently no options for screening or intervention.
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From page 40... ...
Individuals who approach this seriously should talk to a genetic counselor before they begin the process, Kaplan advised. Preventive Services Perspective Steven Woolf, a professor in the departments of family medicine, epidemiology, and community health at Virginia Commonwealth University and a family physician with a background in the evidence-based evaluation of screening tests, suggested that the roundtable should consider the issues of genomic profiling within the established frameworks for evaluating screening tests.
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From page 41... ...
. Potential harms also include false reassurance (e.g., a patient might decide she does not need to keep using the treadmill three times a week because of a particular test result)
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From page 42... ...
Vanier said that when the company first launched its genomic profile product, it was popular for reporters to be tested, to speak with one of the genetic counselors, and then to write about their experience. He recalled one particular reporter who was homozygous for every marker included in the screen for macular degeneration, which increased her risk by a factor of between 5 and 10.
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From page 43... ...
In terms of evidence of clinical utility, genomics screening is no different than PSA testing or mammograms in that it will take a long time to prove its value. Clearly, genetic profiling is not a substitute for family history, but family history has its own limitations as a screening tool.
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From page 44... ...
Data Collection and Analysis One unusual characteristic of genetics and genomics, Marc Williams said, is that there is no currently available standard for representation of genetic or genomic information in any of the available electronic health records or personal health records. Information is stored as text entries.
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From page 45... ...
Witt repeated his earlier comment that if Anne's small increase in breast cancer risk leads her to do more self-exams on a regular basis or to go see a provider, then, to that extent, screening has had a positive effect. But looking beyond the individual patient, as a provider in a system that provides care to over 3 million people, he said that the public health perspective must be considered also.
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From page 46... ...
OPEN DISCUSSION Public and Professional Understanding of Genomics One participant said that genomic profiling should not be prohibited, but rather should be used to increase medical knowledge and health awareness through patient education and continuing medical education for professionals. The participant also pointed to the sophistication of social network groups of patients who do understand genomics and who can manage their chronic diseases better because they seek out the best treatment and can understand scientific evidence.
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From page 47... ...
But if every individual who received a similar risk result followed suit and went for biopsy, the consequences in terms of cost to health systems and payers -- and potentially the patient -- would be significant. Benefits and Harms Roundtable chair Burke observed that there was general agreement among the panel that there is insufficient evidence at this point to claim clinical benefit from personal genomics and that there may be reason to be concerned about potential harms, such as cascade effects, false positive results, false reassurance, or about relatively trivial risks taking up practitioners' time.
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From page 48... ...
Perhaps by the time that the current warfarin clinical studies produce results in 2012, another gene may have been identified that, when added to the protocol, makes the difference between clinical utility and nonclinical utility. The old method of one test at a time, one protocol at a time, one disease at a time, is at odds with the profusion of new data and technology that is now available.
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