If you could learn anything about your genome, or your child’s genome, what would you want to know? What would you not want to know? Information about conditions that run in your family? Only diseases that occur in childhood, or also diseases that might occur later in life? What about conditions that your children might pass on to their children some day? How would you use the information to make healthcare or life decisions? Would you want to be able to change your mind in the future about what information you want?
New technologies called exome sequencing and whole genome sequencing (ES/WGS) are making this scenario a reality, both in clinical care and in research. Increasingly, patients are having these ES/WGS in order to find a genetic cause or diagnosis for a specific condition or set of symptoms. Some people are having ES/WGS conducted as part of their participation in a research study. These tests identify virtually every known genetic change that is associated with many different disease risks, conditions and even certain traits. Therefore, it is possible to know whether someone has a known genetic risk for certain conditions, now or in the future. Some of these results may be unanticipated and secondary to the reason the test is being conducted.
There are significant ethical and practical challenges to analyzing, interpreting and offering these kinds of “secondary results” to patients and research participants and their families. Dr. Holly Tabor, a principal investigator in the Treuman Katz Center for Pediatric Bioethics, is developing an innovative web-based tool called My46 to address these challenges.
Working together with Dr. Michael Bamshad, director of the Center for Genetics and Development and chief of the University of Washington’s Division of Genetic Medicine, she has led an interdisciplinary team to create online tools that will allow individuals to learn about genetics and sequencing, as well as different kinds of genetic results that might be identified. The tool allows individuals to set preferences about which results they do and do not want to receive, and to change those preferences over time as they wish. Then they receive the results they have selected using the online tool, in reports written in lay language that they can share with their doctors and with other family members. The site also allows individuals to communicate directly with a genetic counselor to discuss questions or concerns about results and what they mean to them.
“My46 allows people to control what kinds of genetic information they do or do not want to receive according to their own values and beliefs about the possible benefits and risks of genetic information,” Tabor says. “It also allows researchers and clinicians to deliver important information to individuals so that they can make those choices, understand genetic information and know what to do with it to improve their or their child’s health.”
Tabor and Bamshad are conducting a study funded by the National Human Genome Research Institute that will recruit 200 people with a range of conditions who have had their exomes sequenced to use My46 to set result preferences. Participants will be randomized to receive results either using My46, or directly from a genetic counselor. The study will evaluate a range of outcomes, including satisfaction, understanding of genetic information, psychological responses, and sharing of information with doctors and family members, over 15 months, and compare them between the two groups.
Tabor is excited about the data that will come from the project.
“This is the first study to test an innovative tool for returning exome sequencing results that allows individuals to control their own information,” she says. “Our results will help us to optimize the tool and develop policies and approaches for offering results in both clinical and research settings. Our goal is to help patients and families maximize the possible benefits of learning information about their genomes.”