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U of Washington Team Testing Web-based Tool for Informed Consent, Return of Sequencing Results


This is the third in a series of profiles of projects awarded NHGRI grants to develop policy guidelines on how and when to disclose secondary information to the subjects of genomic research studies. We previously profiled two other projects underway at Columbia University.

Researchers from the University of Washington School of Medicine are about to begin a study evaluating a web-based tool they have created to allow subjects of genomic sequencing studies to choose and receive secondary results from their sequenced genomes or exomes.

The project, led by Holly Tabor, an assistant professor of pediatrics working with the center for clinical genomics at UW, will randomize a group of 150 to 200 patients who are already enrolled in a sequencing research study to either receive results through the group's web tool, called My46, or through a more traditional phone or Skype session with a genetic counselor.

Tabor's study is one of seven projects funded in a $5.7 million program by the National Human Genome Research Institute aimed at creating policy guidelines on how and when to disclose secondary information to the subjects of genomic research studies.

"I think we are taking a slightly different approach from some other groups," Tabor told Clinical Sequencing News this week. "A lot of the discourse has been on focusing on clinically actionable results [and] trying to decide if researchers have obligations to return highly actionable results. But we're trying to look more from the perspective of how we can explain to participants the different kinds of clinically meaningful information and then give them choices."

Tabor said her team has finished initial development and testing of My46, and is just about to start recruiting participants. Further development of the system will be ongoing.

Overall, the team hopes to recruit about 200 patients — adults, children, and families — who are participants in whole-genome or exome sequencing studies at the University of Washington.

Tabor said the group will be mostly drawn from whole-exome research, but also some whole-genome studies. It will include rare limb malformation disorders, rare neurological and developmental disorders, some cystic fibrosis patients, some chronic obstructive pulmonary disease patients, and some autism subjects.

Of these, Tabor said she expects around 150 to end up going through the process and receiving results. All the subjects will use My46 to learn about the different possible secondary, or "incidental," results they might receive and to choose what they want to learn.

The researchers then plan to randomize the group so that half the subjects will receive results through the web tool, and will have the option to follow up with a genetic counselor via a phone or Skype meeting. The other half of the subjects will receive results from a genetic counselor by phone or Skype. The team will follow each group, looking at outcomes over 12 months, including psychological outcomes, healthcare utilization, and satisfaction with the experience. The investigators will also track whether patients share their information and, if so, with whom.

Tabor said participants in both arms of the study will be able to choose results across at least 10 genes that are associated with a range of outcomes — from pharmacogenomic implications to disease risk to carrier status for Mendelian disorders — which the group hopes will represent a comprehensive range of possibilities.

The researchers are interested in "developing best practices on returning results across a range of contexts," Tabor explained, as well as in testing and optimizing the web tool they have developed for the consent and return process.

My46 is built around a "preference grid," Tabor said, which allows participants to choose specific categories that include links to additional information. For each category, participants can signal their interest in receiving results by selecting yes, no, or undecided — "essentially a functional no," Tabor said. Additionally, patients can log back in and change their preferences if they want add or subtract categories up to the point where their results are returned.

Tabor said some of the design is based on previous work the group did with two families with Miller syndrome, published last month in the American Journal of Medical Genetics.

In that study, Tabor and her colleagues interviewed the participants about their experiences in the informed consent process and their perceptions of risks, benefits, and harms of whole-genome sequencing. "We found that [they] really wanted to be able to make choices and change choices over time," Tabor said.

Furthermore, "they wanted to be able to review information at home at leisure and ask questions as needed."

One advantage of a web-based system, Tabor said, is that it enables the process of informed consent and return of results to be centralized and standardized in terms of language and procedure.

"A lot of our participants, especially for rare Mendelian disorders, are located throughout the country, sometimes in geographically remote locations," she said. "So having this centralized, and allowing [people] to connect by Internet and phone and Skype, we think may be really important for certain populations.”

Tabor's project, along with the other six NHGRI-funded studies, make up a consortium on informed consent for return of results, which the institute has charged with developing best practices and guidelines to inform future genomic research.

According to Tabor, as clinical sequencing continues to grow, many of the groups' findings may also be extendable to consenting and communication protocols in clinical practice.

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