Co-design, implementation, and evaluation of plain language genomic test reports

Plain language genomic test report templates

Co-design consultation feedback included suggestions regarding the amount of information, layout, and use of color to distinguish concepts and highlight key messages. Ultimately, eight plain language genomic test report templates were produced (report templates available in Supplementary Material). Six templates for where a diagnosis was achieved; de novo autosomal dominant, inherited autosomal dominant, autosomal recessive, X-linked inherited, X-linked de novo, and mitochondrial. Two templates for where a diagnosis was not achieved; variant(s) of unknown significance with high clinical relevance (i.e., strongly suspected to be causing the phenotype), and uninformative result (i.e., no variants reported). Test limitations were only included for uninformative results. As disease-specific resources are often absent in rare disease settings, sections regarding “what happens next” and “community supports” were pre-filled with general information. During the study period, 159 family reports were issued (pre-filled report example in Fig. 1): 31 de novo autosomal dominant, three inherited autosomal dominant, 23 autosomal recessive, three X-linked inherited, 17 variant of unknown significance, and 82 uninformative reports.

Fig. 1: Example pre-filled “family report” (autosomal recessive template).figure 1

This “family report” includes sections stating the genomic test type and result; inheritance and recurrence information with pictorial representation; follow up plans and information resources.

Evaluation sample

Of 159 families issued a family report, three did not provide an email address, one was excluded on clinician’s recommendation, and one was not sent survey invitations due to an administrative error. One third of 154 families responded (n = 51; response rate 33%). Family respondents were the mother (n = 40, 78%) or father (n = 11, 22%) of the child undergoing urGS; the majority had post-secondary education (n = 34/50, 68%); greater than one third had income in the highest centiles (n = 19/49, 39%) (further family demographics in Supplementary Table 1). Most did not have prior experience with genetic conditions (n = 38/47, 81%). Although half had previous experience with genetic testing (n = 22/46, 48%), this was almost exclusively prenatal and/or reproductive testing (n = 21/22, 95%). Five (10%) did not recall or were unsure if they received the family report and were exited from the survey prior to questions regarding layout, content, and use. An additional four (8%) chose to exit the survey at this point, leaving 42 surveys included in the analysis.

Of 107 clinicians, 57 responded (response rate 53%). Clinician respondents were medical geneticists (n = 27, 47%), medical genetics trainees (n = 12, 21%), or genetic counselors (n = 17, 30%), with one additional respondent declining to specify their profession (further clinician demographics in Supplementary Table 2). Four (7%) reported they had not used a family report and were exited from the survey prior to questions regarding layout, content, and use, leaving 53 surveys included in the analysis.

Some respondents skipped questions; therefore sample size is included throughout. Figure 2 displays five-point Likert scale responses regarding layout, content, and use (means reported in Supplementary Table 3).

Fig. 2: Family and clinician responses to five-point Likert scale questions.figure 2

a Layout of “family reports”. b Content of “family reports”. c Use of “family reports”. The qualifying term represented by […] in legend is in bold/italics within the respective question.

Preferences for receiving and understanding information

Families reported they generally find it helpful if tables and graphs are used to explain parts of a story (n = 35/39, 90%). Percentages were overwhelmingly preferred by families (n = 38/39, 97%) compared with using only words when explaining predictions. While over half of families reported it easier to understand percentages compared with fractions (n = 21/39, 54%), many others reported no difference (n = 16/39, 41%).

Layout of “family reports”

The result was easy to find in the report for the majority of families (n = 37/40, 93%) and all clinicians (n = 53/53, 100%). Similarly, layout and style satisfied most families (n = 37/40, 93%) and all clinicians (n = 53/53, 100%). Visual aids (e.g., pictures, bolded text, section headings, etc.) were helpful for the majority of families (n = 34/40, 85%), with one respondent commenting “bolded sections/headings helpful for key information” and another suggesting “different colors for different sections of the report”. Most clinicians (n = 49/53, 92%) found visual aids helpful as a part of result disclosure discussions, with some commenting positively regarding overall visual layout, e.g., “excellent formatting and graphic design, which is key to enabling easy access to the information”, and others specifically regarding inheritance pattern graphics, e.g., “visual aids describing inheritance are particularly helpful“. Two-thirds of families reported it easy to find sources of further information within the report (n = 25/37, 68%). Most families (n = 36/39, 92%) and all clinicians (n = 52/52, 100%) were satisfied the report was structured in a logical manner.

Content of “family reports”

Most families found the report helpful (n = 32/39, 82%) in understanding their child’s test result, and accurately recalled whether their child received a diagnosis, incomplete diagnosis, or no diagnosis (n = 35/41, 85%). From the one third of families (n = 15/41, 36%) whose child received a diagnosis or incomplete diagnosis, and therefore recurrence risk was on their report, most (n = 11/15, 73%) accurately recalled their recurrence risk. Of families whose report included limitations of testing (uninformative result template), two-thirds recalled their report explained test limitations (n = 14/21, 67%).

Families reported the language used was easy to understand (n = 32/40, 80%) and medical terms were explained in a clear manner (n = 37/40, 93%). Similarly, clinicians thought it would be easy for families to understand the language used (n = 48/52, 92%), and medical terms were explained in a sufficiently clear manner (n = 49/53, 92%), with several comments such as the report was “clear, easy to read and concise”.

Most families found it helpful that reports listed genetic health professionals involved in their child’s care (n = 33/39, 85%). When asked if there were other types of information they would find helpful, two families whose children did not receive a diagnosis expressed a desire for details of all conditions/genes reviewed in the analysis, e.g., “I understand that can be difficult to provide this information, but I would like to understand which genetic conditions my child was assessed against… I don’t know which conditions have been excluded“. Families (n = 38/40, 95%) and clinicians (n = 47/53, 89%) generally felt the reports did not contain unnecessary information. However, some clinicians suggested laboratory identification numbers could be omitted or replaced with date of birth, and/or emphasized community resources should be reviewed and updated by clinicians where appropriate.

Use of “family reports”

Most clinicians (n = 50/53, 94%) found the reports helpful as part of result disclosure, using it at the start (n = 5/53, 9%), during (n = 26/53, 49%) and/or end (n = 44/53, 83%) of the consultation. Comments from clinicians (n = 20/53, 38%) highlighted the clinical utility of the report, particularly regarding facilitating families’ understanding during result disclosure, and usefulness as a written/visual record for families to take-home (Table 1). Some clinicians (n = 25/53, 47%) reported modifying family report content, such as adding management plans, specific support groups, and/or online resources, and most felt this was an easy modification process (n = 23/25, 92%).

Table 1 Illustrative quotes from clinician respondents regarding the use of “family reports”.

The majority of families felt confident using the report to explain their child’s urGS result to someone else, such as family and friends (n = 32/39, 82%), and explaining to other family members whether they have a chance of being affected themselves and/or having a child with the same condition (n = 32/38, 84%). Most families who did not feel confident explaining the recurrence risk did not receive a diagnosis for their child and therefore did not have a reported recurrence risk (n = 5/6, 83%). Approximately half of the families planning or potentially planning more children felt the report had enough information for family planning (n = 12/23, 52%). Most families who felt the report did not have enough information for family planning did not receive a diagnosis for their child and therefore did not have a reported recurrence risk (n = 10/11, 91%), with the one remaining respondent who did have a recurrence risk expressing a desire for the report to “outline all options for future family planning”.

Many families (n = 25/40, 63%) shared their report with health professionals (n = 17/25, 68%) (e.g., primary care physicians, medical specialists, nurses, and allied health professionals), and/or family members (n = 18/25, 72%) (e.g., siblings, parents, aunts, uncles, and cousins), and/or friends (n = 9/25, 36%). Two respondents, both of whom received a diagnosis for their child, stated they shared their report with over 50 friends in addition to their extended families, with one commenting, “We appreciated the extended medical report as well, and having that option was good for us. We shared the family report extensively with our friends and family who we have been updating on our child’s condition. They are from diverse backgrounds and those who engaged with the report were generally understanding of its content”. Clinicians (n = 16/53, 30%) also reported distributing the reports, predominantly to specialist medical teams, social workers, and/or primary care physicians involved in the child’s care, with several commenting on the potential utility for health professionals without genetic specialty training, and usefulness of adding the family report to medical records (Table 1).

Eight clinicians (15%) reported adapting and using the report templates in other settings, including the return of genomic testing results for outpatients, inpatients, and/or research participants. Some clinicians also stated they are requesting their local laboratories and/or clinical genetics services to adopt similar family reports more broadly (Table 1).

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