According
to focus groups we conducted [link to reference], patients and research
participants do not want their clinicians to receive genomic results
that they will then withhold from the patient or participant. Based on
this finding, it is better to apply preferences about which genomic
results patients and participant desire before the results are reported
to providers. PIGSR is designed to lend structure to patient and
participant preferences so they can be applied programmatically during
the process of analyzing raw genomic data.
Since the human genome contains 20,000
genes, it is practically impossible for a patient to record his or her
preference for receiving every possible genomic result. However, PIGSR
is designed so that patterns of preferences can be used to extrapolate
just 15 questions to a wide range of variants and conditions. Filtering
of genomic results based on PIGSR responses involves two steps: (1)
Identifying the pattern of preferences and (2) using this pattern to
select genes that should be included in the analytic plan.
The six patterns of preferences identified by PIGSR are listed below, along with a definition of each.
Expand a section to see a proposed protocol for translating that pattern into an analytical plan.