Introducing the Preferences Instrument for Genomic Secondary Results

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?

These are not only difficult questions for a patient to consider, they are also surprisingly difficult questions to ask clearly. What is the best way to find out from patients or research participants which genetic results they would like to receive and which they would 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 is an efficient and effective method for eliciting the preferences of patients and research participants about the genetic findings they would like to have shared with them. In this study published in Genetics in Medicine (PubMed ID 27561086), 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. Hoping that PIGSR will be adapted for use in a wide variety of contexts, we have made it freely available online at www.PIGSR.org