The Economics of Genomic Medicine Workshop Summary (2013) / Chapter Skim
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5 Unprovoked Deep Vein Thrombosis
5 Unprovoked Deep Vein Thrombosis
Pages 37-48
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From page 37... ...
• A lack of epidemiological information is often more of a factor than economic uncertainties in cost-effectiveness analyses of genomic screening. • In receiving the results of a genetic or genomic test, patients tend not to learn about the potentially harmful effects that a test result can have.
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From page 38... ...
A CLINICIAN'S PERSPECTIVE Various risk factors are associated with deep vein thrombosis in 40-yearold women, said Michael Murray, clinical chief in the Genetics Division of the Department of Medicine at Brigham and Women's Hospital. These factors include smoking, pregnancy, immobility, extended travel, surgery, hypertension, obesity, and cancer.
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From page 39... ...
. In this meta-analysis, 3 studies assessed bleeding risks and 8 stud ies assessed daily dose requirements.
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From page 40... ...
Murray also noted that at the time of the workshop, genotypic information would not be routinely available to help providers in making their decisions. In terms of receiving additional information from whole genome sequencing, Murray observed that a fair number of people with unprovoked deep vein thrombosis have an underlying cancer.
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From page 41... ...
To cope with this and other deleterious variants that are contained within the reference genome, Ashley and his colleagues developed a synthetic reference sequence that contains the major population-specific allele at every position. They also used a newly developed technique to reduce sequencing error rates by up to 90 percent (Roach et al., 2010)
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From page 42... ...
A PATIENT'S PERSPECTIVE Finally, John West provided his perspective on the genetic odyssey he and his family had taken. He had an unprovoked pulmonary embolism at age 43; the median age for such an event is 60 (Silverstein et al., 1998)
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From page 43... ...
He described this issue as misplaced. The biggest medical issue he has had in his life is that the genetic testing was done after the deep vein thrombosis occurred.
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From page 44... ...
Finally, West made the point that the era of genomic testing need not cost the health care system a lot more money. If genomic screening were an add-on insurance option, like dental insurance, he would opt for it, have his family tested, and respond appropriately to any findings in which there was reasonable confidence and something actionable that could be done.
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From page 45... ...
But these clinical trials have very tight inclusion criteria for patients so that statistically significant results can be obtained when examining small effects, and most of Ashley's patients would not qualify for the trials and are therefore not necessarily described by the trials' results. "The reality of medicine as we practice it is that we don't have evidence for most of the things that we do." Grosse acknowledged that diverse sources of evidence, not just the results of clinical trials, are necessary to make conclusions about costeffectiveness.
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From page 46... ...
But patients tend not to learn about the untoward effects that a test can have, such as distress or anxiety to patients and their families, the development of a false sense of security regarding risk of disease, results
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From page 47... ...
Evans observed that West's Factor V genetic variant is a risk factor for deep vein thrombosis, but it is a modest risk factor. For example, discourag
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From page 48... ...
In addition, as Calonge pointed out, false positives will be generated by these genetic tests in a pre-event prevention setting, and harms could be associated with those mistaken test results. He also noted that, for most individuals, just knowing you are at increased risk for a disease is insufficient to change behavior and suggested that West's family may not be representative of the average population in adopting changes.
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