being uninformative for decision making, the potential need for additional confirmatory testing for positive tests, or actual harm from unnecessary procedures based on a false positive result. “It leaves those of us on the front lines in a real dilemma, particularly when there are advocates who want that test and there is evidence that does not support that advocacy,” he said.
In response to a question, several panelists discussed the related topics of access and equity with regard to genomic technologies. In the past, investigators have often experimented on themselves or their colleagues first, because those individuals can give well-informed consent. But that approach focuses on justice as protection from research harms, not on justice as access.
Ashley observed that the analyses of both Quake’s and West’s genomes fell into the category of research as opposed to health care. These individuals were chosen first because both understood the potential benefits and harms of whole genome sequencing. Equity will be important moving forward from this point, he said. Ashley also noted that he participates in a free clinic once a month so that cardiology patients who cannot come to his clinic at Stanford can see him in an alternate setting, and “I would be as willing to entertain the idea of whole genome sequencing in that setting as I would in the clinic at Stanford.”
West pointed out that when he approached Ashley’s group, he and his family had already had their genomes sequenced. He also stated that the largest costs in the future will not be the generation of a sequence but the interpretation of that sequence and communicating that information to patients. If those costs stay high, the health care system will ration the use of the technology in some way. To provide more equitable access, researchers will need to reduce these costs, whether through Web-based tools or other means.
West was asked whether he was concerned that some of the actions he took in response to his genetic results were not based on solid evidence. West responded that he and his family sought to find the best evidence they could. They relied on advice from physicians who specialize in these areas and are highly qualified. “I expect the physician to have the judgment to know what the recommendations are. And those may be based on their personal experience in some cases,” he said. Billings agreed, pointing out that this professional expertise is always going to be a necessary part of the system and will need to be taken into account in projecting costs.
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-