Exploring what parents want to know about their family’s genetics
Newer technologies called whole genome sequencing and exome sequencing are being used to identify the genetic causes of conditions. They are different from other genetic testing approaches because they identify much of the genetic variations that could cause or contribute to health issues. The challenge is, with so much information, what is the best way to offer options for results and explain the meaning of results to individuals who have had this sequencing done?
Geneticist and bioethics faculty member Dr. Holly Tabor, with colleagues at the University of Washington, is studying how research participants want to learn about their genetic results. They created an interactive website called My46.org to allow research participants to express preferences about what results they want to learn from their genetic sequencing. Researchers are interested to see if participants have a positive experience receiving genetic sequencing results via a secure website, in part because genetic counselors are a relatively scarce resource.
Tabor and team are conducting a randomized-controlled trial with 150 people from research studies on a broad range of conditions (including brain and limb malformations, heart conditions, cystic fibrosis and autism) whose exomes have already been sequenced. All will use the My46 website to select what results they do—and do not—want to receive. For children under 18, a parent participates. Half the group will receive results through My46 and half from a My46 genetic counselor.
A range of outcomes are being compared, including depression, anxiety, satisfaction, healthcare outcomes. Surveys and follow-up interviews at 2 weeks, 6 months and 12 months after participants learn their results will collect more detailed information on the experience.
“This is one of the first studies to study the return of genetic results from sequencing, and the first to use a web-based tool to allow individuals to control their own genomic information and to make decisions and review result information according to their own values. My46 allows them to share result reports with providers and family members. We’re very excited about the results we are getting from the study and further developing this tool for use in broader research and clinical settings.”
To learn more, read Self-guided management of exome and whole-genome sequencing results: changing the results return model. Genetics in Medicine 2013 Sept;15 (9):684-90.
To empower research participants and help them select what types of genetic sequencing results they want to learn about.
- Michael Bamshad, University of Washington
- Seema Jamal, University of Washington
- Joon-Ho Yu, University of Washington
- National Human Genome Research Institute (NHGRI)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)