You have a rare illness that seems to have a genetic cause. For years you have moved from geneticist to geneticist looking for the cause of your illness, hoping that by finding the precise genetic cause you will discover ways to alleviate your symptoms. You have had five or six genetic tests, but each one has turned up normal. Finally you visit a young geneticist fresh out of training, hoping that she will know of another test to try. She recommends the most comprehensive genetic test of all: whole genome sequencing (WGS). You are ready to immediately get this test when she poses a difficult question: WGS might reveal a cause for your illness, but it might also reveal that you are at risk for developing breast cancer, or schizophrenia, or Alzheimer’s disease. Which of these “incidental” findings do you also want to receive?
Until recently, this genomic “would you want to know” question has lived exclusively in the world of science fiction. Would you want to know what secrets your genome holds about your future? For example, would you want to know how you will die? If you knew what the future is likely to hold, would you feel fatalistic or empowered to take control of it? These questions have been the topic of compelling movies like GATTACA and classic novels like Aldous Huxley’s Brave New World.
Now that technologies like whole genome sequencing (WGS) and whole exome sequencing (WGS) are being used widely in clinical care and translational research, patients and research participants are increasingly being asked to specify which genetic results they would like to receive. Gaining knowledge about our genetic future is becoming science fact.
In most clinical contexts, WGS and WES are selected for their ability to answer a specific clinical question. In this context, it almost goes without saying that any genetic finding related to that clinical question – the primary result – will be reported to the patient. Since WGS and WES generate raw data across the genome, however, it is inevitable that providers and patients will need to decide how they will handle the other findings – the secondary results or additional results – that could also be produced using that raw data.
When sequencing is being done exclusively for a research purpose, there may be no primary result. But investigators and participants are still faced with the question of how to handle the genetic findings that could be produced and returned to participants. These results are often referred to as incidental findings, although the generation of these results is often integral, and not merely incidental, to the research being performed.
It turns out, however, that it can be rather difficult to find out from patients or research participants which genetic results they would like to receive and which they would like to like to leave unknown. The human genome contains more than 20,000 genes, and there are thousands of diseases known to medicine. Should clinicians and researchers ask about all of these possibilities?
What is needed, we believe, is a method for eliciting the preferences of patients and research participants about the genetic findings they would like to have shared with them. In a recent study published in Genetics in Medicine, we report on the research we undertook to develop such a method. This instrument, which we call the Preferences Instrument for Genomic Secondary Results (PIGSR), was designed to allow patients to record their preferences about which secondary or incidental findings they would like to receive. In order to ensure that our instrument could be used effectively in busy clinical and research settings, we designed it to be brief and straight-forward enough that patients or research participants could complete it without assistance from a healthcare professional.
Hoping that PIGSR will be adapted for use in a wide variety of contexts, we have even made it available online under a Creative Commons License. This license allows academic and commercial institutions to use and adapt PIGSR at no cost, as long as they acknowledge its source in their own work. While science fiction often imagines our genetic future as a dystopia, we hope PIGSR can play a part, if only a small one, in ensuring that genomics-based medicine of the future will respect the right of patients and research participants to choose for themselves whether they prefer empowered knowledge or blissful ignorance.