Putting control into parents' hands: Parent experiences with a genomic results e‐booklet

Abstract

We evaluated the clinical use of a customizable, multi‐language, Genomic Results Booklet (GRB)—a printable e‐booklet co‐designed with parents—to provide information and guidance to families post‐genomic testing. The GRB provides individual genomic results, with implications and resources, all in family‐friendly language. Participants were parents of children offered genomic testing in a pediatric neurology clinic. Two and eight weeks after GRB receipt, parents completed surveys to assess usage of the e‐booklet. Parents then had a semi‐structured telephone interview about their experiences, which were analyzed using interpretive description. Thirty‐four parents received a customized GRB, including versions in Punjabi and Arabic. Seventeen booklets were for pathogenic test results, and the other 17 were for noninformative results. The surveys showed that all families would recommend the GRB and had used its resources or supports. About 80% shared it with others, and 67% described it as helpful in future planning. Analysis of 20 parent‐interviews revealed that parents valued understandable, relevant information; a written e‐pamphlet; a list of appropriate resources; and practical guidance. The GRB is valued by parents to explain their individual genomic testing results, to provide useful supports, specific resources, and a sense of direction in the weeks after receiving results.

What is known about this topic

Parents of children receiving results after genome‐wide sequencing often experience a paucity of information about their results or describe feeling abandoned, lost, frustrated, and uncertain after GWS results are returned.

What this paper adds to the topic

We describe a tool that is valued by parents, provides information in a family‐friendly way, and potentially fills a care gap with practical resources and supports. This tool may be particularly useful in clinics with no genetic counselors.

1. INTRODUCTION

During the past decade, genome‐wide sequencing (GWS) has become a first‐tier diagnostic test for many patients with a suspected rare genetic disease (Chung et al., 2023). In pediatric neurology patients, where disorders are genetically and phenotypically heterogeneous, two systematic reviews have demonstrated a diagnostic yield ranging from 22% to 68%, depending on the indication (Sheidley et al., 2022; Shickh et al., 2021). GWS may therefore have a crucial impact on disease management, clinical outcome, prognosis, and quality of life (Demos et al., 2019; D'Gama et al., 2023; Shickh et al., 2021; Smith et al., 2023; Symonds & McTague, 2020).

After receiving GWS results, many families report positive psychological effects, such as relief, hope for the future, and an increased sense of control, regardless of the GWS result (Alam et al., 2022; Jeffrey et al., 2021; Krabbenborg et al., 2016; Liang et al., 2022; Rosell et al., 2016). Other families describe disappointment, continued uncertainty, increased worry, or loss of hope (Alam et al., 2022; Jeffrey et al., 2021; Krabbenborg et al., 2016; Liang et al., 2022; Rosell et al., 2016). However, a scoping review (Crellin et al., 2023) of parents' experiences identified unmet needs: Many described healthcare providers' language as inaccessible, overwhelming, or difficult to absorb during appointments. Some parents suggested that access to take‐home information could improve their understanding and provide connections to psychosocial help and networking resources for additional support (Inglese et al., 2019; Nevin et al., 2022). They valued clear information, communication, and support throughout the genetic testing process (Crellin et al., 2023).

Patient‐centered resources are established mechanisms to address these issues: A study of families of children with intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies who had undergone GWS found that parents appreciated a take‐home report with simple language, logical flow, and recommended next steps (Stuckey et al., 2015). The same group found that parents had improved understanding, were more engaged, felt less overwhelmed, and were more empowered to advocate for their child after receiving an enhanced GWS report (Williams et al., 2018). Written information may help families to remember important facts, assist with communicating information to others, improve understanding, provide clarity regarding next steps, and increase patient satisfaction (Cassini et al., 2011; Haga et al., 2014; Handra et al., 2022; Saunders et al., 2003; Williams et al., 2018).

Professional organizations recommend pre‐ and posttest genetic counseling to ensure that the complexity, limitations, implications, and results of GWS are conveyed and understood by patients and their families (Boycott et al., 2015; Matthijs et al., 2016; Smith et al., 2023; Souche et al., 2022; van El et al., 2013). Unfortunately, although GWS is offered by many medical specialties, including neurology, many clinics do not have genetics experts available to provide counseling (Ministry of Health and Long‐Term Care, 2017; Raspa et al., 2021; Salm et al., 2014). Even in medical genetics clinics, families' post‐GWS needs are often unmet, leaving them feeling alone, abandoned, lost, frustrated, and uncertain after GWS results are returned (Handra et al., 2022; Liang et al., 2022; Rosell et al., 2016).

Parent‐partners in a 2020 research study involving pediatric GWS at the University of British Columbia suggested that a written resource was needed to support families' needs post‐return of GWS results. In response, a personalized Genomic Results e‐Booklet (GRB) was co‐developed with these parents' input on content and design (Handra et al., 2022). The printable e‐booklets provided each family with their child's individual genomic results and implications, and generic, as well as result‐specific resources, all in family‐friendly wording, and at a reading level of about grade 6–7, as recommended by health literacy guidelines (Handra et al., 2022). These booklets are constructed and personalized for each family using online templates that are designed to be completed by a genetic counselor or individual with similar knowledge using drop‐down menus for common variables. The drop‐down menus were designed for ease and speed of completion of the booklets.

For the current study, the GRB was adapted by authors SA and PB to reflect the current local clinical practice of singleton testing, rather than the trio testing used in our previous research study. Further, this adaptation of the GRB was translated into French, Punjabi, Arabic, and Simplified Chinese. There are two GRB versions: one of 16 pages for informative findings (diagnostic results) and the other of 11 pages for uninformative findings (no findings). Page length was defined by the content deemed necessary by parent‐partners in the original developmental study by Handra et al. (2022). Results that were variants of unknown significance (VUS) were not included in the study.

Sample e‐booklets are here: https://www.bcchr.ca/GenCOUNSEL/results‐e‐booklet.

The research study described by Handra et al. suggested that the GRB can help families understand and respond more effectively to GWS results, especially in situations where access to genetic counseling resources is limited (Handra et al., 2022). To investigate this further, we assessed the GRB through a pragmatic trial in a pediatric neurology clinic without a genetic counselor. Our objective for this quality improvement and quality assurance (Qi/Qa) project was to collect quantitative and qualitative information on “real life” clinical usage of the GRB by parents of neurology patients who had received GWS, including a description of its utility to facilitate parental actions or behaviors that might be indicative of their adaptation to GWS results.

2. SUBJECTS AND METHODS

2.1. Participants and setting

The Pediatric Neurological Care Center at the BC Children's Hospital, Vancouver, Canada, is the tertiary referral center for the Province of British Columbia and Yukon, population 5.6 million (Government of British Columbia, 2024; Statistics Canada, 2023). The clinic's 15 physicians have been ordering about 150 GWS tests annually since 2018. The test is typically funded by BC's public healthcare system. The clinic has no genetic counselor; therefore, pre‐ and posttest counseling is provided by the neurologists, some of whom have substantial genetics knowledge but whose time with each patient is limited and often focused on clinical, symptomatic care. Neurologists in this clinic have the option of referring patients with complex genetic results to the Department of Medical Genetics, but long waiting lists for this service are problematic.

Five neurologists in the clinic collaborated in this quality improvement/quality assurance study to evaluate the GRB as a means to further support their families after GWS testing. Their motivation was the feedback expressed by parents in the Handra et al. study (Handra et al., 2022); and the fact that their neurology clinic provides no standard information to families regarding GWS results. In the present study, after receipt of GWS results, neurologists had the option of inviting their patients to participate. Authors SA or PG customized a GRB for each patient using information from the GWS report, the neurologist's consultation letter, and selected resources such as condition‐specific support groups. Customization using the online template, drop‐down menu options, and most of the necessary explanations and diagrams made e‐booklet completion much easier and less time‐consuming than traditional patient letters (Attard et al., 2019; Brown et al., 2016; VandenBoom et al., 2018), which are not routinely used by the neurologists in this clinic. Completed GRBs were approved by the patient's neurologist, locked to prevent accidental changes, password‐protected, and emailed as a PDF to families after the neurologist's result disclosure session. Eligible study participants were parents who received a GRB between June 2022 and June 2023.

2.2. Survey and interview development

Quantitative data collection was via surveys (see Appendix S1) sent 2 and 8 weeks after parents' GRB receipt. Surveys were sent via a REDCap e‐link (Harris et al., 2009). We requested that the same parent complete both surveys. Nonresponders were sent up to 3 email and/or phone reminders, 3 days apart; before removal from the study.

The goal of the surveys was to assess parents' self‐described understanding of the test results, their utility, and parents' expressed feelings about the results. The survey also documented parents' usage of the GRB and whether they had shared it with anyone. The 2‐ and 8‐week surveys were identical with the exception that the 2‐week questionnaire collected demographic data, preferred language, and health literacy data, and the 8‐week survey queried whether recipients had used the resources provided, whether they would recommend the GRB to others, and had suggestions for improvement. All questions were optional for respondents.

The surveys included questions adapted from the Feelings About genomiC Testing Results (FACToR) questionnaire (Li et al., 2019) designed “to measure the psychosocial impact of returning genomic findings to patients in research and clinical practice.” We hoped that this measure might be sensitive to changes in parents' feelings about their results over time, something that might indicate adaptation to the results. We omitted US‐based insurance and privacy questions, as well as a question about disease prevention of colorectal cancer that was part of the original FACToR questionnaire. We pilot‐tested our adapted version on three families to verify clarity and face validity. No changes were made after the pilot testing. See adapted FACToR questionnaire in Appendix S1.

Qualitative data were collected via an interview scheduled immediately after the second survey. All participants who had completed the second survey were invited for an interview. The interview guide (see Appendix S1) consisted of a series of open‐ended questions and follow‐up prompts derived from Handra et al. (2022) and refined by PG, SA, and PB following beta testing and three pilot interviews. Questions explored parents' general impressions and use of the GRB, their thoughts about the resources provided, and any actions taken as a result of the information provided in the GRB.

All interviews were conducted by PG by telephone, recorded, and transcribed verbatim. An Arabic interpreter translated one interview, and a Punjabi interpreter and a family member assisted with a second interview. Participants were contacted by telephone and/or email a maximum of five times before being deemed unreachable and excluded from the interviews.

2.3. Data analysis

Survey data were analyzed using descriptive methods (Microsoft Corporation, 2016); Chi‐square for trends was analyzed with Epitools (n.d.) and was used to determine whether FACToR scores changed in a systematic way between the time of the initial survey and the same survey some 6 weeks later. We used interpretive description to analyze interview transcripts (Thompson Burdine et al., 2021; Thorne et al., 1997). Interpretive description is a qualitative research approach that acknowledges that human experience is contextual and subjective, but that principles can still be identified in recurrent themes and patterns.

It has been used in medical education and nursing science to capture the subjective experience of a sample and use this knowledge to inform practice. Primary inductive line‐by‐line coding of transcripts was completed using NVivo R1 (Lumivero, 2020). All 20 interviews were coded by PG and SA independently. Primary codes were agreed upon, grouped into secondary codes, then organized into hierarchical schematics to visualize data and ensure the range of experiences and opinions were captured (see Appendix S1). Context, themes, and subthemes were then identified and developed.

3. RESULTS

3.1. GRB distribution and study enrollment

Between June 2022 and May 2023, 48 families were invited to participate in the GRB project, and 34 (71%) families agreed to do so. Of the 14 families who were not included in the study, three were withdrawn because they did not respond to contact attempts, and one was omitted from the analysis cohort at the end of the study because they were still awaiting a result disclosure appointment. For one family, the booklet was pending approval by a neurologist, and for 11 patients, parental blood samples to clarify inheritance were still pending when we closed the study. In addition, three families were in the pilot cohort and therefore were not included in the analysis.

Of the 34 families enrolled, 32 families only received the e‐booklet in English; one family received an Arabic version; another family received both Punjabi and English versions. Half of the families received informative results; the other half (n = 17) received uninformative results. Booklets were distributed a median of 47 days after initial results were available (range 0–119 days). The apparent delay in distributing booklets resulted from the length of time between the provision of preliminary and final results. This was a consequence of the time spent waiting for parents' blood samples to facilitate a final interpretation.

Survey 1 was completed by 21/34 participants (62%) a median of 2.9 weeks after GRB receipt (range 1.0–4.9 weeks); Survey 2 was completed by 23/34 participants (68%), a median of 8 weeks (range 7–12 weeks) after GRB receipt. Two participants who had not returned the first survey answered Survey 2.

3.2. Demographic information

Demographic details are described in Table 1. In brief, all respondents were biological parents: mostly mothers in their 30's or 40's; approximately, three‐quarters preferred to speak English, although the language first learned was not English for about half of the respondents. One‐third of participants had high school or fewer years of education, and a third had undergraduate or graduate degrees. One‐third had difficulty reading medical forms at least some of the time, and two‐thirds used the internet to research their child's health at least several times per month. Based on participants' postal codes, 26/34 families (76%) lived within a day's drive of BC Children's Hospital, and 8 (24%) lived further away, necessitating an airplane flight or 1 or 2 days' drive (Map in Appendix S1).

TABLE 1.

Demographic distribution of entire sample that was included in the study, and for those who consented to an interview.

Variable	Full sample	Participants in interview
N of sample	34 (100%)	20 (59%)
Gender of respondent
Female	30 (88%)	17 (85%)
Male	3 (9%)	3 (15%)
Did not answer	1 (3%)
Age of respondent
20's	3 (9%)	1 (5%)
30's	17 (50%)	12 (60%)
40's	6 (18%)	3 (15%)
50's and above	4 (12%)	3 (15%)
Did not answer	4 (12%)	1 (5%)
Respondent's relation to child
Biological parent	34 (100%)	20 (100%)
Preferred language
English	25 (74%)	14 (70%)
Arabic	1 (3%)	1 (5%)
Cantonese	0	0
French	1 (3%)	1 (5%)
Mandarin	0	0
Punjabi	2 (6%)	2 (10%)
Other	2 (6%)(Bengali, Afrikaans)	2 (10%)(Bengali, Afrikaans)
Did not answer	3 (9%)
Language first spoken
English	17 (50%)	10 (50%)
Arabic	1 (3%)	1 (5%)
Cantonese	1 (3%)	0
French	1 (3%)	1 (5%)
Mandarin	1 (3%)	0
Punjabi	4 (12%)	3 (15%)
Other	5 (15%)(Bengali, Afrikaans, Telgu, Spanish, German)	4 (20%)(Bengali, Afrikaans, Telgu, Spanish)
Did not answer	3 (9%)	1 (5%)
Education
High school or less	11 (32%)	9 (45%)
College diploma	9 (26%)	6 (30%)
Undergraduate degree	5 (15%)	1 (5%)
Graduate degree	5 (15%)	3 (15%)
Did not answer	4 (12%)	1 (5%)
Trouble reading medical forms (may need help)
Always	2 (6%)	2 (10%)
Often	4 (12%)	2 (10%)
Sometimes	15 (44%)	8 (40%)
Never	8 (24%)	7 (35%)
Did not answer	4 (12%)	1 (5%)
Internet usage to research child's condition
Daily	1 (3%)	1 (5%)
Several times per week	6 (18%)	5 (25%)
Several times per month	15 (44%)	8 (40%)
Less often	6 (18%)	4 (20%)
Never	1 (3%)	1 (5%)
Did not answer	4 (12%)	1 (5%)
Device used to access GRB a
Computer	11 (41%)
Tablet	1 (4%)
Smart Phone	14 (52%)
Printed	2 (7%)

^a Note, these options are not mutually exclusive.

We asked how parents accessed the GRB: About half used a smartphone, 40% used a personal computer, and two printed the GRB. The proportions of these demographic variables in the total sample are similar to those who completed the surveys and interviews.

3.3. Perceptions of GRB and its usage

Table 2 summarizes GRB usage at Survey 1 and Survey 2. Of note, at Survey 2, all participants had viewed the GRB, and over half had viewed it at least twice. The number of participants who had shared the booklet with others increased from 24% to 41% between Survey 1 and Survey 2. All respondents would recommend the booklet, but at Survey 2, four of 22 individuals would only recommend the GRB to families with a genetic diagnosis. Each of these four individuals had received a genetic diagnosis from GWS.

TABLE 2.

Summary of respondents' perceptions and usage of the GRB at two time points.

	Survey 1. Median 2.9 weeks after GRB receipt	Survey 2. Median 8 weeks after GRB receipt
Number of respondents who had viewed GRB at least once	19/21 (90%)	23/23 (100%)
Number viewing GRB at least twice	(not asked)	13/22 (59%)
Number of respondents who had shared GRB with others	5/21 (24%)	9/22 (41%)
Shared with family members or friends	5/21 (24%)	9/22 (41%)
Shared with healthcare providers	0/21	2/22 (9%)
Number of respondents who had explored resources provided	(not asked)	5/22 (23%)
Specific resources relating to child's condition		5/22 (23%)
Generic resources for assistance programs		2/22 (9%)
Number of respondents who thought the GRB was
Too long	0/20	1/22 (5%)
Too short	0/20	0/22
About the right length	20/20 (100%)	21/22 (95%)
Number of respondents who would recommend the GRB
For all families	15/20 (75%)	18/22 (82%)
Only to families with a genetic diagnosis	5/20 (25%)	4/22 (18%)
To nobody	0/20	0/22

Note: Completion of questions was optional; therefore, denominators are provided for each variable.

3.4. FACToR and related data

Our surveys collected data using the original five‐point response options for FACToR: Not at all; A little; Somewhat; A good deal; A great deal. For analysis, given our small numbers and concerns regarding fairly subtle semantic differences, particularly in a population where English is often not the first language, we decided a priori to collapse the responses to a three‐point scale: Not at all; A little/somewhat; A good/great deal. Data are shown in Table 3.

TABLE 3.

shows the distribution of scores for an adapted three‐point scale for FACToR items.

	Survey 1 N = 21	Survey 2 N = 23
Thinking about your child's genetic test results, in the past week, how much did you feel…
Upset
Not at all	10 (48%)	17 (74%)
A little/somewhat	9 (43%)	3 (13%)
A good/great deal	2 (10%)	3 (13%)
Happy
Not at all	4 (19%)	8 (35%)
A little/somewhat	10 (50%)	9 (39%)
A good/great deal	7 (33%)	6 (26%)
Anxious or nervous
Not at all	7 (33%)	10 (43%)
A little/somewhat	11 (52%)	9 (39%)
A good/great deal	3 (14%)	4 (17%)
Relieved
Not at all	6 (29%)	6 (26%)
A little/somewhat	7 (33%)	10 (43%)
A good/great deal	8 (38%)	7 (30%)
Sad
Not at all	12 (57%)	16 (70%)
A little/somewhat	6 (29%)	4 (17%)
A good/great deal	3 (14%)	3 (13%)
Frustrated
Not at all	10 (48%)	12 (52%)
A little/Somewhat	10 (48%)	8 (35%)
A good/great deal	1 (5%)	3 (13%)
Thinking about your child's genetic test results, in the past week…
How helpful was the information you received from the genetic test result in planning for the future?
Not at all	2 (10%)	5 (22%)
A little/somewhat	9 (43%)	9 (39%)
A good/great deal	10 (48%)	9 (39%)
How uncertain do you feel about what the genetic test results mean for your child?
Not at all	5 (24%)	8 (35%)
A little/somewhat	12 (52%)	11 (48%)
A good/great deal	4 (19%)	4 (17%)
How uncertain do you feel about what the genetic test results mean for you?
Not at all	6 (29%)	11 (48%)
A little/somewhat	11 (52%)	8 (35%)
A good/great deal	4 (19%)	4 (17%)

There is no significant difference between scores at survey points 1 and 2, as measured by a chi‐square test for trends. Li et al. (2019) identify being “upset,” “anxious/nervous” and “sad” as negative emotions on the FACToR scale. These were described as present in 17% or fewer of respondents “a good/great deal” of the time at each survey time point. The three positive FACToR emotions: “happy,” “relieved,” and “helpful information for future planning,” were present “a good/great deal” of the time in 26% or more of the 21 individuals who completed both surveys.

3.4.1. Interview analysis

Interviews were conducted a median of 10.3 weeks (range 8–14 weeks) after receipt of the booklet and ranged from 8 to 34 min (median 13 min). Interviews were evenly divided between those with informative (10) and uninformative results (10).

Analysis of transcripts established 760 primary codes, which were organized into 19 secondary codes based on concept similarity. Parents often referenced their day‐to‐day experiences and challenges of living with a child with serious medical concerns, which provided the context to interpret these data. Four major themes emerged related to the GRB:

1. The value of information

2. The importance of a written e‐pamphlet

3. The desire for appropriate resources and supports

4. The need for clear guidance

These themes were consistently represented among participants, regardless of whether families received an informative or uninformative GRB. The major themes were broken down further into subthemes. Themes and subthemes are summarized below with illustrative quotes.

3.4.2. Theme 1: Value of information

All parents consistently shared that information related to their child's health was a central need. Two subthemes were that the information was understandable and relevant. Parents stated that having understandable information was important; many revealed that they find medical or genetics‐related information quite complex. The GRB aided their comprehension.

I liked the way [the GRB] made the medical information digestible for non‐medical people. And I appreciated that because it can be a bit crazy to read that kind of stuff. PID124 (null GRB)

The specific information each family wanted was unique; therefore, information relevance was also key to utility.

The booklet is just way easier to understand than when you try to do your own research… PID125 (positive GRB)

A few parents with uninformative results speculated that if the GWS had yielded a genetic finding, they might have been more interested in the information included in the GRB.

I mean the links at the end are helpful, but there wasn't really anything in there that I felt benefitted us, in our situation. PID135 (null GRB)

Finally, one parent felt the GRB improved her knowledge, but as it lacked sufficient specific details about her child's prognosis, she “lost faith” in it and ultimately did not find it helpful.

3.4.3. Theme 2: Importance of a written resource

Nearly, all parents stated that one of the most important qualities of the GRB was its written format. The ability to share it were and refer back to it as a health record were subthemes. At the time of the interview, more than half of participants had referred back to their GRB to look for new resources, improve their understanding, refresh their memory, prepare to explain information to others, or find an answer to a new question.

[The GRB] was very good, it was very handy have. It was great to be able to look back at [it] for things that we may have had questions about that you don't think of right off the bat. PID142 (positive GRB)

She read it four times… she just reread it so she can understand it very well. Interpreter on behalf of PID111 (positive GRB)

Parents credited the booklet with alleviating some of the stress of recalling information and facilitating better support from others.

[The GRB is] an opportunity to share the information first hand, it's not me [worrying about] missing pieces of the information, this is an opportunity for people to see [the information] first hand, in detail, to understand it better, so they can support us. PID108 (positive GRB)

Several parents mentioned that they anticipate going back to the GRB when they have more time, particularly to access resources such as support groups.

Several parents described adding the GRB to their child's health records. Some said it was important for validating their child's condition, for advocacy, access to clinical trials, or feeling in control. Specifically, a parent of an adult child stated how satisfying and validating it was to finally have this information in writing.

I liked that that [the GRB] was provided electronically so that I can keep it in my files, and being able to print it out is good… To be provided with [a written record] is huge, it puts some control into the parent's hands. PID149 (positive GRB)

3.4.4. Theme 3: Desire for resources and supports

Parents expressed an ongoing need for resources and supports and their appreciation for this aspect of the GRB. However, parents observed that the timing of access to resources and supports impacts their appropriateness and therefore their usefulness. Further, several parents described barriers that prevented them from accessing resources and supports. These points form the subthemes of timing and barriers to optimal GRB use: Many parents expressed how helpful the GRB would have been if they had received it much earlier, such as when their child's health concerns first presented. One parent of an adolescent stated that she wished she had access to the GRB when her child was younger and the family was initially navigating the child's condition.

Those resources would have been very, very valuable to me [when child's symptoms began]… We just immigrated here when it happened and we didn't have any connections, family, or anything… PID134 (null GRB)

Another parent of an older child explained that understanding information about their child's condition was vital to their advocacy. Only three parents had accessed resources from the booklet at the time of the interview; but four expressed intent to use them later. The most commonly referenced barrier to resource use was a lack of time.

I would like to read about [the resources and supports] and join a support group, if I get the time. PID117 (null GRB)

[The resource list] left me with a question… are we still eligible for those grants or funding… I would look into the funding when I don't have too much on my brain. PID124 (null GRB)

Some parents felt they were already well‐connected and therefore did not use the resources and supports in the GRB but felt they might be useful for others.

Talking more about it doesn't make me feel better, but you know everyone has a different way of coping with these type of events. [I] think it's good for you to [include the resource and supports list]. PID152 (null GRB)

3.4.5. Theme 4: Need for clear guidance

This theme subsumes the need for explicit next steps, and the emotional impact of having or not having this guidance.

All parents referenced the desire to have clear next steps for their child. The GRB provided this by including management recommendations from their neurologist, such as finding or continuing the right treatment or investigating other medical concerns.

I [immediately] started asking questions about next steps, like what to do with her, and the medication, all that kind of stuff. PID124 (null GRB)

In addition, links to parent organizations of similarly affected families and other resources helped parents to move forward confidently.

I'm happy that [the GRB's] a resource that's available because you get the diagnosis and it feels like a closed door… you don't know where to turn, and [the GRB] helps to give direction: a path forward. PID108 (positive GRB)

I find [not having clear next steps] very discouraging because I don't know what to do for my son… I could be causing more suffering for him, because I don't know what I'm doing. PID119 (positive GRB)

3.4.6. GRB translations

Two translated GRBs were provided to families, one in Arabic, one in Punjabi. The Arabic GRB was clear and understandable to the female participant. She shared that the GRB was useful and helped her understand how the diagnosis was made. On the other hand, the participant who received the Punjabi GRB was not able to understand the booklet. The level of language was beyond her, making the GRB of little use to her. She was also provided with an English GRB, which was also too difficult for her family to comprehend. We were unable to assess her literacy or health literacy in Punjabi.

4. DISCUSSION

We studied the value and utility of the GRB, a personalized result e‐booklet for families of children having GWS in a clinical setting. Our surveys and interviews indicated that almost all families understood the information presented in the booklet, and valued the format and content it contained, commonly stating that it served as a permanent, sharable reference containing relevant information and provided “a path forward.”

Survey data demonstrated that by a median of 8 weeks after GRB receipt, all families had viewed the GRB, many had shared it with others, and about a quarter had explored the resources that were listed. Most participants felt that the GRB was about the right length and would recommend it to others; all findings support the GRB's utility.

FACToR questions do not ask specifically about attitudes or feelings towards the GRB, but we note that fewer than 1 in 5 families were uncertain about the meaning of the GWS results for themselves or their child. There are no control data to compare parents' understanding in the absence of the GRB. However, most parents perceived that the GRB gave them a better understanding of pertinent medical information.

Most participants also stated that the GRB provided some form of support, including the ability to communicate genetic information more easily with others and to access generic resources such as financial assistance. This support appeared to be largely independent of diagnosis. Parents whose children now have a genetic diagnosis felt that their understanding was improved and they could better support their children and plan for their future. Most parents whose children received an uninformative result also felt that they understood the results better, and that the booklet reaffirmed the information and care received from their neurologists, while three individuals indicated that they may have been more interested in the content of the GRB if their family had received a genetic diagnosis.

Unsurprisingly, we documented that parents' lack of time forms a significant barrier to the uptake of resources described in the GRB. This repeated theme speaks to the inadequacy of supports in general, particularly when the child is younger. Despite this, parents appreciated the resources provided in the booklet, and in general, parents of older children indicated how much more helpful the resources would have been earlier in their child's journey. This suggests the importance of providing something like the GRB as early as possible when health concerns first emerge.

Other factors also influenced parents' views of the booklet, such as the previously discussed experience of the parent who received the Punjabi booklet and a parent distressed by her child's unexpected diagnosis that was associated with a poor, yet ill‐defined prognosis.

One advantage of a pragmatic clinical study is that the sample is usually more representative of the clinic population than samples from a research study. The demographic data we collected suggest that this may be the case for our hospital: about half of participants did not speak English as a first language; about one‐third had completed high school or fewer years of education; and the majority of individuals had at least some difficulty reading medical forms. The family‐friendly language used in the booklet was commented on by many participants. In comparison, a study within the NHS Genomic Medicine Service found the patient letters written by clinical geneticists corresponded to a reading level of 15–17 years (Ellard et al., 2024). Many users described the GRB as easier to understand than the information they found on the internet, and health literacy did not generally appear to impact understanding of the booklet. However, anecdotally, we learned that the neurologists sometimes avoided referring families whom they thought were inappropriate for the study. Therefore, it is possible that this limits the generalizability of our findings if people with lower literacy or language skills were inadvertently excluded from this study. Internet access was not a limiting factor for any participants.

The long‐term utility of the GRB could not be studied in our short‐term study. Over half of participants revisited the booklet within 8–14 weeks of its receipt, but our study lacks data beyond this time point. The majority of parents stated that the GRB helped them remember information, communicate the GWS results to others, identify and guide their next steps, and that the GRB would have future utility, all of which may be indicators of possible longer term utility, as suggested by Handra et al. (2022). Our findings support those of others who have found that a written format resource is an essential part of ongoing support and care (Cassini et al., 2011; Haga et al., 2014; Handra et al., 2022; Saunders et al., 2003; Williams et al., 2018).

By the time of the second survey, over half of parents had shared the booklet with others and stated that the GRB facilitated this. This act of sharing may contribute to the known beneficial support from others when navigating caring for a child with complex medical needs. A scoping review of 29 research studies including families with rare genetic conditions found that the most cited needs were social, informational, and emotional (Pelentsov et al., 2015). The GRB has the potential to make information sharing easier, thus extending parents' support networks.

We were encouraged that the length of the GRB was generally felt to be “about right.” Further, no parents said that the number of resources provided was overwhelming or prevented them from using the resources/supports, but several commented on the benefit of having diverse options as people's needs are unique and variable. Some stated that the resources listed in the GRB provided direction and consequently allowed them to take action to better support themselves and their child. Parents' desire for information and guidance on next steps has been well documented (Rosell et al., 2016). We hypothesized that these resources, in combination with the personalized information provided about each child's results, would aid in giving a sense of direction to families. This has been observed by others, including Macnamara's study for parents of children with undiagnosed conditions where the value of next steps is detailed for families with and without diagnoses (Macnamara et al., 2019): A sense of empowerment and hope is observed where a clear course of action is defined for parents. Identifying the impact of the GRB on clarifying a path forward and perhaps in adapting to a diagnosis was not the central focus of the study but is a direction for future research.

For almost all parents, the GRB facilitated some form of action. Most parents had taken one or more of the following actions: shared the GRB with another person, created a printed copy, used the resources, or sought out more information related to the next steps for their child, specific details about the diagnosis, or genes or symptoms that were not included in the booklet. This information highlights actions that are assisted by the GRB, as well as those that are still potentially unmet needs within clinical care.

The study demonstrates that the GRB has the potential to complement care provided in the pediatric neurology clinic and may be useful in other clinical settings offering GWS. The GRB may help address the lack of information expressed by many families after undergoing genomic testing, especially in settings where there are limited genetic counseling resources.

4.1. Limitations

There were some limitations in this study. As mentioned previously, as the neurologists informed families about the study, it is possible that there was selection bias on their part; they avoided inviting families with known language or other challenges. We have no data about the families who did not participate in the surveys or the interviews, something that is a possible source of bias. The chosen Qi/Qa design of the study precluded a randomized controlled design. As this was a short‐term study, we do not have insight into the long‐term utility of the GRB. Finally, although a larger sample size would have been ideal, we were limited by the testing ordered by our pediatric neurology unit.

4.2. Future directions

Even though we attempted to reduce the burden of completing the GRB by optimal form design, form completion likely remains a challenge for clinical specialties where there are no genetics professionals. Exploring alternative options for this task, such as artificial intelligence or training other healthcare providers to complete the GRB, would be a useful contribution to the field. Furthermore, more extensive and formal testing of the translated versions of the GRB would be useful. Different ways of distributing the GRB, such as a website, could be investigated but need to be balanced against the challenging requirements for individualized and confidential information.

AUTHOR CONTRIBUTIONS

Shelin Adam, Patricia Gombas, and Patricia Birch were involved in the conceptualization of the study and its methods, data curation, data analysis, investigation, writing of the original draft, as well as reviewing and editing subsequent drafts. Alison M. Elliott was involved in the conceptualization of the study, funding acquisition, and reviewing and editing the final manuscript. Jan M. Friedman, Michelle Demos, Mary B. Connolly, and Cyrus Boelman were involved in the conceptualization of the study and reviewing and editing the manuscript. Kyrstin Lavelle was involved in data curation and reviewing and editing the manuscript.

FUNDING INFORMATION

GenCOUNSEL was funded through the Large Scale Applied Research Project (LSARP) Genome Canada competition with co‐funding from: Canadian Institutes of Health Research (CIHR), Genome BC, Genome Quebec, Provincial Health Services Authority, BC Children's Hospital Foundation, and BC Women's Hospital Foundation.

CONFLICT OF INTEREST STATEMENT

All authors declare they have no conflicts of interest, including competing financial interests in relation to the work described in this article.

ETHICS STATEMENT

Human studies and informed consent: This study was completed in accordance with the QI/QA protocol of the University of British Columbia Clinical Research Ethics Board. All applicable international, national, and/or institutional guidelines were followed.

Animal studies: There were no animal studies in this article.

Supporting information

Appendix S1

Adam, S. , Gombas, P. , Demos, M. , Boelman, C. , Connolly, M. B. , Lavelle, K. , Friedman, J. M. ; Elliott, A. M. , & Birch, P. (2025). Putting control into parents' hands: Parent experiences with a genomic results e‐booklet. Journal of Genetic Counseling, 34, e70095. 10.1002/jgc4.70095

DATA AVAILABILITY STATEMENT

The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.