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Plain-Language Genomic Test Reports Help Families Understand Results

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NEW YORK — Researchers in Australia have designed plain-language genomic testing reports to help patients and their families better understand their results.

Rather than replace traditional lab reports, the new templates serve as easy-to-understand supplementary reports that can also help patients and families communicate genetic information with other family members and healthcare providers.

"From a genetic counseling perspective, we're always a little bit aware that everyone can do better; there's always 'better' in terms of having information that families can digest in their own way," said first author Gemma Brett, a genetic counselor with Victorian Clinical Genetics Services at Murdoch Children's Research Institute and the University of Melbourne. She added that her team has been studying how families digest and understand genetic results in acute care settings, particularly with the incorporation of ultra-rapid sequencing.

According to senior author Zornitza Stark, also from VCGS, as well as Australian Genomics, the idea of a plain-language report has been around for quite some time. But this study, which occurred in the context of a national pediatric ultra-rapid genomic testing program, gave them an opportunity to not only implement such reports in a situation where families are generally overwhelmed and receive a lot of complex information but also roll it out nationally.

As they reported in Npj Genomic Medicine in October, Brett, Stark, and their team designed their plain-language, or family, reports in consultation with genetic health professionals, plain-language experts, and patients and their families, gathering feedback not only on the information the reports contain but also on their design. For the study, the team designed eight plain-language reports, adapting templates from the literature for various real-world scenarios: six in which a diagnosis was reached and two in which it was not, including a situation where an uninformative result was returned and another where a variant of uncertain significance was found.

Overall, the one-page reports include the patient's name, the parents' names, why the test was performed, and, in brief, the result. It also includes the inheritance pattern for the variant and the recurrence risk for the parents if they are to have another child, as well as visual aids. Below that, the reports contain information on any clinical next steps, who the patient's genetic team is, and who will follow up with them. It also lists links to additional resources and community support networks.

The layout of the report, Brett said, flows logically and reflects the narrative and journey the family has experienced.

In the study, the top half of the one-page reports was pre-filled centrally, with the local team providing additional information if they wanted.

During the course of the study, plain-language reports were issued to 154 families and 107 genetic health professionals. Of those, 51 families and 57 clinicians responded to surveys asking about the reports. Most families, 82 percent, said they found the reports helpful for understanding the results.

Nearly all the respondents, 93 percent, said the result was easy to find, and 80 percent said the language used was easy to understand. Further, 95 percent said they did not feel that the report contained unnecessary information. However, two families whose child did not receive a diagnosis did express a desire for additional information on what conditions or genes had been tested.

"The feedback was overall positive about the different elements [of the report]," Brett said.

Meanwhile, the clinicians surveyed also reported that the plain-language reports were easy to understand and most also said that the reports helped with results disclosure.

Most family respondents further reported they felt confident using the report to explain their child's results to family and friends. About two-thirds said they shared the report with health professionals, more than 70 percent said they did with family members, and about a third said they shared it with friends. Two respondents said they shared the report with more than 50 people.

Brett added that people in the study further told them that these reports allowed them to revisit those illustrations and clearly explained information when they wanted and share those explanations with family, friends, and other clinicians. She added that she found it remarkable to see that at least two respondents shared their report with more than 50 people.

Brett and Stark now hope to roll these reports out more widely across Australia. Stark added that they have already been introduced and tested at different locations. "[Because it was] a multisite, national study, we could actually put this into use at many different clinical services and give them all the experience of doing it, as opposed to trying it just in one service and then showing it to others," Stark said.

She noted that their templates are already being used in a number of research projects and that her goal is to have them become part of clinical practice, noting that some clinical services, including, as Brett added, a statewide laboratory service, have already adapted them for their own use.

Brett added that it does not necessarily have to be their own templates that gets used, so long as "the concepts get out there in terms of helping families further."

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