In a third stage, which Greely predicted will start once the price of whole-genome sequencing nears $1,000, sequencing a person’s entire genome will be nearly as inexpensive as a single genetic test, in which case insurance companies may prefer to pay for a whole-genome analysis rather than for multiple genetic tests. Finally, when the price drops below $1,000, whole-genome sequencing will be routine. “Everyone who has decent health coverage … will be fully sequenced,” Greely said, and that information will be stored. “Within the next 10 to 20 years that is probably where we are headed,” he added, and the ethical issues will differ slightly depending on the stage.
Greely described three major regulatory issues that will be important as the technology progresses through these three developmental stages. First, he said, sequencing machines will need to become Class III medical devices. They will need to be regulated by the FDA and will require proof of safety and efficacy. Before the instruments can be used for clinical purposes, their developers will need to demonstrate their sensitivity and their specificity, and the machines will need to be assessed for their ability to phase chromosomes and sequence areas of high GC content.
Second, the laboratories that do the sequencing will need to meet stricter proficiency standards. These facilities will need to be certified under CLIA and should additionally be certified by CAP. The CLIA certification process will need to establish clear proficiency standards before the sequencing of patient genomes is allowed for clinical purposes. Laboratories will need to demonstrate the kinds of quality control systems they have in place, the kinds of procedures they have for repeating unclear or unexpected results, and how they will make sure that important positive results are not false-positives. Meeting these standards will require “effective regulatory attention to clinical laboratories,” Greely said.
The most difficult regulatory issues will involve the interpretation of genomic data. When whole-genome analysis is used in the clinic, interpretation will need to be largely automated because, Greely said, “with 6.8 billion base pairs in a diploid genome, you are not going to get a human brain looking at all of those.” Software packages will sort findings into different categories for action, and where information belongs will depend partly on the medical needs and characteristics of the patient. These software packages will presumably allow for sequence validation and updates, Greely said, and as such will be considered medical devices that should also be regulated by the FDA for safety and efficacy.