Williams designed the team’s PCORI-funded genomic reports project with several other physicians and a community-based investigator, Michelle Bonhag. An attorney with a longtime interest in genetics, she helped create a sample version of the patient-facing report, compose questions for use in interviewing parents about the report, and code results. The team recruited Amy Clink and other parents of children with undiagnosed intellectual disability who were part of Williams’ whole-genome sequencing project.

The research team presented nine sets of parents with the sample of a genomic laboratory report intended for parents. The parents answered questions about what features they would like to see, as well as their preferences for language and format.

“They were asking, ‘Is this easy to follow? Are you understanding this?’” says Amy Clink, a public school music teacher and mother of three. “I do remember that it was very easy to read, and it was laid out nicely. The colors helped us to read it.”

Themes soon began to emerge. Parent after parent expressed appreciation for the report’s simple language, logical flow of ideas, and visual appeal. The researchers were surprised that the parents asked for more detailed information about how their child’s condition might change over time, even if that information made the report longer and more difficult to read.

“It was enlightening for us because the families were asking for something that we never would have thought about putting in a report,” says Williams. The researchers next convened two focus groups to address the request for prognosis information and then added this feature to the report. “Really, this is their design,” Williams says.

The provider-facing report was designed in a similar manner. Many doctors find traditional genomic laboratory reports difficult to use. Williams and his colleagues started with a report they’d created for a prior project. They then redesigned it in response to in-depth interviews with a broad range of doctors likely to receive genetic sequencing results. The final report differs from the patient-facing report in its more technical language and in the resources recommended. Like the report for patients, it strives to present information about diseases and genes clearly in a well-organized, easy-to-understand document. The doctors requested access to the patient report as well. “We think this is an early sign that the reports might improve engagement and communication,” says Williams.

Whole-genome sequencing did produce a diagnosis for Mackenzie Clink. She has Pitt-Hopkins syndrome, which results from a very rare mutation. Having a diagnosis hasn’t changed Mackenzie’s day-to-day care, Amy Clink says. Now nine years old, Mackenzie attends school in a classroom with other children with disabilities. There, she learns how to operate switches to communicate; children with Pitt-Hopkins syndrome do not develop speech. Still, says Amy Clink, “it’s good to know what the problem is. It helps us get a better idea of what her future is going to be.”