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Parents’ Perspectives on Supporting Their Decision Making in Genome-Wide Sequencing Karen C. Li, MSN, RN1, Patricia H. Birch, MSc, RN2, Bernard M. Garrett, PhD, RN3, Maura MacPhee, PhD, RN4, Shelin Adam, MSc5, & Jan M. Friedman, PhD, MD6

1 Graduate Student Researcher, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada 2 Clinical Associate Professor, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada 3 Associate Professor, School of Nursing, University of British Columbia, Vancouver, British Columbia, Canada 4 Xi Eta, Associate Professor, School of Nursing, University of British Columbia, Vancouver, British Columbia, Canada 5 Clinical Assistant Professor, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada 6 Professor, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada

Key words Decision making, decision support, exome

sequencing, genetic counseling, genome

sequencing, genome-wide sequencing, nursing,

parent perspective

Correspondence Karen C. Li, Box 153, Children’s and Women’s

Hospital, 4500 Oak Street, Vancouver, BC V6H

3V4, Canada. E-mail: [email protected]

Accepted: February 27, 2016

doi: 10.1111/jnu.12207

Abstract

Purpose: The purpose of this study was to explore parents’ perceptions of their decisional needs when considering genome-wide sequencing (GWS) for their child. This is a partial report and focuses on how parents prefer to receive education and information to support their decision making about GWS. Design: This study adopted an interpretive description qualitative method- ological approach and used the concept of shared decision making and the Ottawa Decision Support Framework. Methods: Participants were parents who had already consented to GWS, and had children with undiagnosed conditions that were suspected to be genetic in origin. Fifteen parents participated in a focus group or individual interview. Transcriptions were analyzed concurrently with data collection, iteratively, and constantly compared to one another. Repeat interviews were conducted with five of the parents to confirm, challenge, or expand on the developing concepts. Findings: Participants felt that their decision to proceed with GWS for their child was an easy one. However, they expressed some unresolved decisional needs, including a lack of knowledge about certain topics that became rele- vant and important to them later and a need for more support and resources. Participants also had ongoing informational and psychosocial needs after the single clinical encounter where their decision making occurred. Conclusions: Participants expressed unmet decisional needs, which may have influenced the quality of their decisions. The strategies that participants sug- gested may help create parent-tailored education, counseling, decision sup- port, and informed consent processes. Clinical Relevance: Health care professionals who offer GWS for children should assess parents’ values, priorities, and informational needs and tailor in- formation accordingly. There are opportunities for nurses to become involved in supporting families who are considering GWS for their child.

Many genetic conditions present in childhood (Biesecker & Green, 2014) as undiagnosed conditions that require a “diagnostic odyssey” to define the cause (Friedman et al., 2006). However, the technological advances of

genome-wide (whole genome or exome) sequencing (GWS) enable geneticists to test the entire genome at once. This may greatly reduce both time and ex- pense (Ayuso, Millan, Mancheno, & Dal-Re, 2013), and

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provide a specific genetic diagnosis in at least 25% of cases (Yang et al., 2013), resulting in immediate bene- fits, such as more accurate genetic counseling, access to resources, and possible treatment.

Background

While GWS can provide diagnoses, this testing often reveals incidental findings (IFs): unanticipated results un- related to the primary concern (Ormond et al., 2010). IFs may predispose a patient to conditions ranging from trivial to potentially severe in the present or sometime in the future. Healthcare professionals (HCPs) therefore have the challenging task of communicating accurate and sufficient information about the benefits and potential adverse implications of GWS to facilitate families’ test- ing decisions. Genetic counselors (GCs) have expressed challenges with the length, complexity, and content of the GWS consent process (Machini, Douglas, Braxton, Tsipis, & Kramer, 2014). Specifically, GCs had difficulty ensuring their patients accurately understood the ben- efits, limitations, potential results, and implications of GWS for themselves and their family members (Machini et al., 2014). GCs expressed interest in having access to resources related to guidelines on consent, result com- munication, ethical, and counseling issues (Machini et al., 2014). These challenges align with the recommendation of the American Society of Human Genetics (ASHG), which states that HCPs who provide pediatric genetic testing need to have appropriate expertise and training in interpreting and communicating genetic information (Botkin et al., 2015). Furthermore, genetic HCPs should establish a long-term communication plan for all results, including, which individuals are involved in the commu- nication and the staging of information (Botkin et al., 2015). HCPS should provide basic genetic counseling and must have appropriate knowledge and skills related to testing, interpreting and communicating GWS and its’ re- sults to patients and families (Botkin et al., 2015).

In Canada, GWS has been carried out in the research setting for several years, and clinical GWS is becom- ing available. There are Canadian (Boycott et al., 2015), American (Green et al., 2013) and European (van El et al., 2013) professional recommendations for the use of clinical GWS. Canadian recommendations state that prior to testing, patients and families should undergo ge- netic counseling with a qualified person with a compre- hensive understanding of clinical GWS (Boycott et al., 2015). The recommendations also state the inclusion of specific content to discuss during consent (Boycott et al., 2015). Given that GWS will ultimately impact patients, parents, and individuals, input is needed from them. In Europe and North America, parents have voiced con-

cerns about GWS decision making, including the lengthy and often elaborate consent process (Rigter et al., 2013; Tabor et al., 2012), and the challenges of discussing complex concepts such as IFs (Levenseller et al., 2013). Research on parental perspectives has focused mainly on return of IFs or results (Daack-Hirsch et al., 2013; Kleiderman et al., 2013; Sapp et al., 2013; Townsend et al., 2012); however, exploration of what elements and supports parents perceive as important to their educa- tional preparation, pretest discussion, counseling, and in- formed consent is sparse: we have little understanding of parents’ perceptions of their decisional needs when making a choice about GWS for their child. Decisional needs are factors influencing decision making, including knowledge, expectations, values, support, resources, and individual characteristics (O’Connor, 2006). Decisional needs should be met or resolved to optimize the quality of the person’s decisions (O’Connor, Stacey & Jacobsen, 2011).

The purpose of this study was to explore parents’ per- spectives of their decisional needs when contemplating GWS for their child. More specifically, this article exam- ines and describes how parents prefer to receive educa- tion and information about GWS. Understanding their viewpoints will enable HCPs to improve the education, counseling, and informed consent for parents consider- ing such testing for their child.

Genomics and Nursing

It is imperative for nurses to be involved and knowl- edgeable about new clinical methods such as genomic testing (Calzone et al., 2013). Nurses have a legal and professional duty of care to their patients (Young, 2009), which includes the professional responsibility to serve as patient advocates (Hamilton, 2009), to promote informed decision making, and to ensure fairness by raising ethical, legal, and social concerns (Badzek, Henaghan, Turner, & Monsen, 2013) relating to GWS. A primary goal of nurs- ing research is to enhance health care for families. This study aims to explore the potential for nurses to assist in this by exploring parental perspectives prior to the widespread implementation of clinical GWS.

Methods

The qualitative methodological approach known as In- terpretive Description (Thorne, Kirkham, & Macdonald- Emes, 1997) was selected to explore this phenomenon. Shared decision making (Charles, Gafni, & Whelan, 1999) and the Ottawa Decision Support Framework (O’Connor, 2006; see Appendix S1, available with the online version of this article) were used as the

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contextual basis for exploring the decision-making pro- cess in this study. The research proposal was approved by the University of British Columbia Behavioral Research Ethics Board. This study took place in British Columbia, a province in western Canada, where GWS is not yet a standard of care in clinical practice and is only avail- able in limited circumstances through special appeal to British Columbia’s Medical Services Plan. The Canadian health care system is publicly funded and provides uni- versal coverage for medically necessary services based on need.

Recruitment and Sampling

At the inception of the study, there were only a few children who had undergone GWS in British Columbia; therefore, participants were recruited at a local children’s hospital through convenience sampling. English- speaking parents who had experienced the decision- making process and had consented to GWS for at least one child were targeted. Parents had children with a range of conditions suspected to be genetic in origin. Twenty-four families were invited via email or telephone and 15 parents from 15 families consented to participate. They were instructed to read a short information sheet (see Appendix S2, available with the online version of this article) about GWS and watch two video links (Aulakh, 2010; Sanderson, 2012) intended to help participants gain a basic understanding of GWS.

Purposeful theoretical sampling was used to obtain maximum variation on the themes that initially emerged from the analysis (Thorne et al., 1997). After collect- ing data from all 15 participants (first round), the pri- mary investigator purposefully selected those participants who would provide the most useful information for repeat interviews (Thorne et al.,1997). Useful informa- tion was based on participants’ unique contexts, perspec- tives, or themes that needed clarification (Thorne, Reimer Kirkham, & O’Flynn-Magee, 2004). Selected participants had less common circumstances compared to the ma- jority of other participants, such as a parent who had adopted their child. This sampling method was used in the latter part of the data collection stage.

Data Collection and Analysis

As a qualitative study using an Interpretive Descrip- tion methodology (Thorne et al., 1997), this approach supports the use and integration of a variety of data collection techniques to better support a substantial in- depth analysis of the rich data acquired by these different methods.

Data were collected through a 90-min focus group (June 2013), eleven individual semistructured interviews of 30 to 60 min (May–July 2013), and five repeat in- terviews, held at a convenient time and location cho- sen by the participants (October 2013–January 2014). The focus group was used to capitalize on group engage- ment and dynamics, leading to a deeper level of discus- sion or expression of opinion (Polit & Beck, 2012). A trained facilitator guided the focus group discussion and the primary investigator was present to address partic- ipants’ questions. Of the 15 consenting participants, 4 individuals chose to participate in one focus group ses- sion. Due to participants’ scheduling conflicts or partic- ipants’ comfort level in a group setting, the remaining 11 participants chose to partake in individual interviews. Interview dates were chosen based on participants’ avail- ability. Three participants chose interview dates before the focus group session, and eight participants chose dates after the focus group session. Semistructured individual interviews also enhance the credibility and authenticity of emerging themes (Thorne et al., 1997). Five separate parents from the first round of data collection partici- pated in repeat individual interviews, which served to enhance the rigor of the study by ensuring that the emerging conceptualizations were firmly grounded in the data and represented participants’ shared perceptions (Thorne et al., 1997).

The focus group and interviews were audio- recorded, transcribed verbatim, and de-identified with pseudonyms. Transcriptions were audited for accuracy, and only the primary investigator could connect the pseudonyms to the participants. Focus group and inter- views were facilitated by a topic guide (see Appendix S3, available with the online version of this article) that included questions about types of information, resources, support, and contextual, personal or social factors that in- fluence decision making. The topic guide was constructed based on the Ottawa Decision Support Framework (see Appendix S1), which is a well-validated instrument, and the final guide was edited and reviewed by the research team. Participants also raised topics that were important to them.

Data were collected and emerging themes were iden- tified concurrently in order to help shape the direc- tion of the study (Thorne et al., 2004). Data were collected iteratively, until participants were no longer raising new issues or themes. Tentative themes were discussed with the research team, who assisted in gen- erating or clarifying follow-up questions for five re- peated interviews. These repeated interviews explored further similarities, differences, or elaboration of spe- cific attributes of participants’ perceptions (Thorne et al., 2004).

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A content analysis was performed using NVivo 10 (QSR International, 2013). All transcribed data were entered, initially read, and reread several times by the primary in- vestigator. They were coded during this process to estab- lish consistent thematic elements emerging from the data, and possible relationships between them.

Rigor

The elements from the data, coding, and interrelation- ships were independently reviewed by the other mem- bers of the research team, and edited and further refined. A group consensus of the final elements, their interrela- tionships, and mapping was then agreed by all the team members. In addition, the primary investigator main- tained a reflective journal and NVivo 10 facilitated a de- cision audit trail. The primary investigator used NVivo 10 to log when and why elements emerging from the data were coded.

Results

All names used in this article are pseudonyms. Table 1 describes the demographic characteristics of the 15 par- ticipants. The timeline between the GWS decision and the interview or focus group ranged from 6 months to 2 years. The age of the child varied between 6 months and 13 years. Six participants reported they received re- sults, and nine reported they did not receive results. Of the three participants that had a diagnosis for their child, two reported they received it from GWS. Ten participants reported they did not receive a diagnosis, and two partic- ipants preferred not to respond.

Qualitative results are presented below in the broad themes of parents’ decisional context, informational needs, psychosocial needs, and supporting strategies identified by parents. Subthemes are described in each section.

Parents’ Decisional Context

The overall data highlighted the context-dependent nature of decision making for GWS. Participants’ di- verse circumstances and other elements such as person- ality, values, beliefs, and amount of prior knowledge influenced and personalized their decision making and was believed by many participants to be a factor in the amount and type of information they needed.

Despite parents’ diverse circumstances, commonalities emerged from the data. Most participants (n = 12) de- scribed having children who were sometimes acutely ill, requiring medical attention or hospitalization, or under- going a diagnostic odyssey for several months or years.

Table 1. Participant Demographics

No. of participants

Demographic (N = 15)

Gender

Female 12

Male 3

Age (years)

20–29 2

30–39 4

40–49 9

Highest level of education completed

High school 3

Postsecondary trade/vocational school 1

University/college 11

Graduate/doctorate 0

Marital status

Single 1

Common law 1

Married 12

Separated 1

Employment

Student 1

Employed outside the home 6

Homemaker 7

Unemployed 1

Total household income

<$10,000 1

$10,000–$29,999 1

$30,000–$49,999 0

$50,000–$69,999 1

$70,000–$89,999 5

$90,000–$99,999 0

$100,000 or more 3

No response 4

Ethnicity

Asian 3

Caucasian 8

Other 3

No response 1

Current residence

Within Vancouver 2

Outside Vancouver but <15 km from Vancouver 1

>15 km but <30 km from Vancouver 2

>30 km from Vancouver but within British Columbia 8

Outside of British Columbia 2

Clinical or research genome-wide sequencing

Clinical 4

Research 11

Affected child has a diagnosis

Yes 3

No 10

No response 2

Participants’ experiences included multiple visits to dif- ferent HCPs and diagnostic and genetic tests. Participants unanimously felt that their decision to proceed with GWS was easy to make.

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Informational Needs

This is a partial report. Participants brought up more concerns related to the process of receiving information than the content of information. Participants’ prioritized different content for decision making, and these are men- tioned elsewhere (Li, 2014).

Volume of information. Participants received in- formation from HCPs in the form of education, genetic counseling, and consent. Most participants (n = 13) felt that they received “enough” information, but two felt they received “too much:” Kirsten said, “It was too much information. One thing leads to the other. It’s too much to remember. Especially with a lot of things going on with my son. You’re trying to absorb things, little by little.” Many participants (n = 10) thought that a large volume of information given at one point in time was not helpful. Candace said, “If I had asked the questions in the begin- ning, it wouldn’t have been a flood of information and knowledge all at one time. I would have known a little bit along the way.”

Lack of knowledge. Several participants (n = 8) re- alized that they had personal knowledge gaps about spe- cific topics that became relevant to them later:

I think (incidental findings) would have been good to have been brought up. I think at the time we were all just really excited to get it done. So there wasn’t much discussion. But now looking back there was an incidental finding with my genes as a part of the whole sequencing for my son that just popped up, it was kind of a surprise. It would have been good to know beforehand that that sort of stuff could have popped up. (Candace)

Psychosocial Needs

Another identified theme was participants’ psychoso- cial needs. Participants commonly spoke about the rela- tional and psychosocial aspects of their decision-making process.

Relationship with healthcare professionals (HCPs). Most participants (n = 13) described the im- portance of the HCP–parent relationship during decision making about GWS. Participants prioritized different at- tributes of the relationship, including trust (n = 7), con- tinuity (n = 7), a clear and effective communication style (n = 6), and being knowledgeable or informative (n = 10) and collaborative (n = 4). Many participants mentioned more than one attribute. An HCP–parent

relationship with these attributes helped participants feel at ease with their decision making. Tracy said, “[My child’s doctor and I] have a close connection and made it very easy for me. I have a very strong relationship with [my child’s doctor].”

Parents’ well-being. Many participants (n = 10) felt that their own well-being was affected or compro- mised due to their current circumstances. Participants de- scribed feelings of fear, anxiety, uncertainty, frustration, or feeling out of control:

The frustration of not knowing. My daughter has chal- lenges and it all adds up to the ongoing conditional challenge plus having no control over when the infor- mation comes [from the HCP]. So basically you’re out of control, and when you don’t have control over the situation, it’s just frustrating. (Felix)

Participants valued the instances when HCPs recognized and considered their well-being as parents in a vulnerable or stressful situation:

Something (that) I liked from (my child’s doctors) was that they were thinking everything about the baby and also caring for (me). “Are you ready? (Do) you have too much stress here?” I like[d] that they were worried about me. (Gloria)

Supporting Strategies

Participants made suggestions or agreed with other participants about best supportive strategies during the decision-making process for GWS. These strategies are summarized below.

Brief and understandable summaries. Partici- pants preferred brief and understandable summaries, a “Coles Notes” version:

One paragraph of ”this is really what you’re about to read” then into detail as required. Basically the bottom line up front, these are the worst things that can happen, these are the advantages that could come out of it. Sort of an abbreviated version of the best-case scenario, worse-case scenario. (Felix)

Participants valued explanations in lay language that avoided medical jargon:

I’m just an ordinary mom. (The doctor) leveled with me. He explained to me things step by step, the simplest way, so I would be able to understand things. So that’s very important. This is not our daily language (laughs). (Kirsten)

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Approaches to information delivery. Partici- pants acknowledged that every person has different communication needs and preferences for obtaining in- formation. They suggested tailored approaches to infor- mation delivery using different media: Sydney said, “I think definitely the information to get was good on the paper, but I’m a visual person too. I think with the videos and having the sheets in front of you . . . that’s a pretty good explanation.”

Most participants (n = 12) had a preference for a face- to-face discussion for the initial informed consent process, the return of results, receiving “bad news,” or any sit- uation that required multiple questions or explanations. Sandy said, “Of course face-to-face is best but is not al- ways possible. If I was going to get some bad news, I would definitely want it face-to-face.”

Layers of information. Each participant had dif- ferent perceptions of what was “adequate” or “relevant” information. They favored receiving layers of informa- tion rather than receiving a large volume of information at one point in time. For example, receiving informa- tion ahead of the HCP discussion or meeting could allow parents to better absorb the information given to them: Sharon said, “Educational material should be provided in advance of the consent because rarely can someone sit and absorb a lot of the information and then reason- ably be able to provide consent.” In addition, participants suggested that take-home material be made available for review:

It’s good to have a walk-away, something to give parents like a pamphlet or a video. Generally when you’re being taught something you’re listening but maybe once you’ve left you’re like “oh, jeez I forgot to ask that.” Well, if you have a pamphlet or a Q and A type DVD, you can always put that on and be like “Oh, okay, I get it, oh right, that’s what they were talking about.” (Aida)

Related to the layers of information, one participant proposed the idea of “layers of consent” to differentiate consenting for the primary diagnosis from consenting to receipt of IF results. The participant further suggested that IFs be treated differently—just being mentioned as a pos- sibility during the first discussion and considered in more detail in a second layer of consent.

Sources of information. Participants valued credi- ble sources of information: Sydney said, “A lot more peo- ple would be at ease if they would get information strictly from an actual doctor or a professional, and links to the

pages to read, rather than you trying to Google it.” Partic- ipants emphasized the importance of HCP availability to answer their questions: Aida said, “Making sure that the parents know that if they do have any more questions they can contact whoever is presenting the information”.

Discussion

Most participants were in GWS research studies (see Table 1) that involved an affected child who was acutely or chronically ill, and participants had prior experiences with genetic testing. Similar to Bernhardt et al.’s study (2015), these contextual factors likely influenced how the HCP conducted the consent session and participants’ sub- sequent decision making. Given most participants’ cir- cumstances, it was not surprising that proceeding with GWS was perceived as an easy decision. Participants’ past experiences of having an acutely ill child, or undergoing a diagnostic odyssey and other genetics tests, and their fo- cus on finding solutions, has likely influenced the ease of their decision. Parents value a diagnosis (Makela, Birch, Friedman, & Marra, 2009) and are unlikely to pass up the possibility of finding answers for their child.

At the inception of the study, the researchers predicted that participants would articulate priority informational needs prior to making a decision about GWS for their child. However, participants raised other relevant topics, including the lack of relevant knowledge they received, the strategy of providing layers of information and con- sent over time, and the possibility that psychosocial needs may be more significant than their informational needs. Even though participants felt that they received adequate or too much information, some parents realized that they lacked information they would like to have had at the decision time. The participants’ lack of knowledge may be attributable to numerous factors, such as the urgency of participants’ circumstances, lack of time during the counseling or consent process, complexity and volume of the information presented, or participants’ poor recall of information.

Participants consented to GWS in the interest of their child, a decision they considered easy. However, this should not take away the importance of properly in- forming them about the nature and possible outcomes of proceeding with GWS. From an ethical standpoint, pro- viding this information to parents respects their role as representatives of the best interest of their child (Dondorp, Sikkema-Raddatz, de Die-Smulders, & de Wert, 2012).

Most participants thought that large volumes of in- formation given at one time can result in “information overload.” Dondorp and colleagues (2012) discussed the

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challenge of obtaining meaningful informed consent in genome-wide array testing and commented that HCPs do not have time to discuss all of the possible outcomes from GWS prior to testing. The extent and complex- ity of GWS counseling has also been described by re- searchers in the United States (Levenseller et al., 2013; Ormond et al., 2010). Genetic counselors acknowledge that participants cannot devote up to 6 hr to consent, or comprehend all of the information in the documents and counseling session (Bernhardt et al., 2015). Thus, there is a need to use approaches that avoid making par- ents feel overwhelmed with too much information all at once, while at the same time ensuring they are well informed.

Participants preferred to have information made avail- able as it became more relevant to them, suggesting that not all participants’ informational needs were met, and supporting the concept of providing layers of information and layers of consent over time to help prevent informa- tion overload. Appelbaum et al. (2013) support “staged consent” as one way to improve current consent prac- tices. The participant would be alerted to the possibility of IFs, with additional information provided when and if IFs are found to facilitate informed decision making about return of the IF results. Layers of information and con- sent may be a suitable approach for parents considering GWS.

The participants’ suggestions of supportive strategies should be empirically tested to assess their effectiveness for parents’ knowledge acquisition, comprehension, pos- itive psychosocial outcomes, and ability to make a qual- ity decision about GWS for their child. For example, the feasibility, effectiveness, and sustainability of providing layers of information alongside layers of consent should be clinically studied. There is a need to test this and other strategies to provide people with education that is sufficient to ensure meaningful and well-informed deci- sions. Some example strategies suggested by researchers include different informed consent or return of results models, such as generic consent (Ormond et al., 2007), a self-guided management approach for GWS results (Yu, Jamal, Tabor, & Bamshad, 2013), and a tiered-layered- staged informed consent model (Bunnik, Janssens, & Schermer, 2013).

Psychosocial health can be viewed as the degree to which a person has more positive beliefs and feelings (e.g., psychological well-being, self-efficacy), and fewer negative beliefs and feelings (e.g., worry, anxiety, fear; Street, Makoul, Arora, & Epstein, 2009). Participants described factors that contributed to their psychosocial needs, such as having a good HCP–parent relationship and HCPs’ consideration of parents’ well-being. The importance of the HCP–patient relationship and its

associated positive effects on health outcomes is not new (Kaplan & Greenfield, 1989). Aspects such as trust and the provision of emotional support have been found to lead to more positive working relationships and less decisional conflict (Stewart, Pyke-Grimm, & Kelly, 2005). Thus, it is important for HCPs to be mindful of the aspects of the relationship that have the potential to impact parents’ psychosocial needs and their decision making (Matthias, Salyers, & Frankel, 2013; Stewart et al., 2005). Participants’ psychosocial needs may be as important as their informational needs.

Limitations

The sample size was small (N = 15) and it was com- posed primarily of female Caucasian Canadians of higher socio-economic status. The study did not include the views of parents who opted not to participate or parents who declined GWS. It will be important to include these parents’ views as they may have different perspectives on parental decisional needs. Whereas the study has a nar- row context that precludes global generalizability of the results, the findings suggest the value of a larger, more diverse study.

The age of the participant’s child and the timeline be- tween the GWS decision and the interview or focus group were not specifically collected; however, some partici- pants indirectly reported this data as they told their sto- ries. Participants were unable to recall the length of their child’s diagnostic trajectory, and data on this were not collected.

There were no direct observations of the genetic coun- seling session, decision making, or informed consent pro- cess, so the information that the HCPs actually conveyed to each participant (and their interactions) was not ac- cessible. Furthermore, participants may have inaccurate recall of their experiences and decision-making processes. Nonetheless, the participants’ perspectives provided com- mon concepts that emerged from the data.

Conclusions

Participants felt that their decision to proceed with GWS was easy to make; however, they had unmet deci- sional needs. Unresolved decisional needs may adversely affect decision quality, which could affect the parents’ ac- tions and emotions, and the child’s long-term health and appropriate use of health services (Jacobsen, O’Connor, & Stacey, 2013). It is essential for HCPs around the world that offer GWS to consider the current settings and processes that may contribute to creating unmet de- cisional needs and to execute strategies to address these needs.

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Practice Implications

The supportive strategies that the participants sug- gested should be considered to help improve education, counseling, decision making, and the informed consent process for parents considering GWS for their child. Par- ticipants’ views were congruent with genetic counselors’ perspectives about summarizing main topics, tailoring the delivery of content based on the family’s level of knowl- edge, interests, and concerns, and guiding families to ask questions (Bernhardt et al., 2015). Genetic counselors can evaluate families’ understanding by assessing non- verbal cues (e.g., eye contact, nodding), the number and type of questions that families ask, and checking their un- derstanding during the session (Bernhardt et al., 2015). It is important for HCPs to assess parents’ individual values, priorities, and informational needs and tailor information accordingly (Bernhardt et al., 2015; Durand, Stiel, Boivin, & Elwyn, 2010; Jackson, Cheater & Reid, 2008; Ormond et al., 2007).

Interventions to support unmet decisional needs may be needed. Decision support can include a variety of methods, including a service (e.g., decision coaching), a system (e.g., an interactive decision aid), or products such as pamphlets, videos, or websites (Elwyn, Frosch, Volandes, Edwards, & Montori, 2010). Implementing a variety of such decision support may be a way to help mitigate information overload, prevent gaps in knowl- edge about GWS, tailor information that is most rele- vant and important, and help support parents to make decisions that are right for themselves and their families. However, further research is needed to explore whether such decision support interventions are feasible, effective, and sustainable.

Implications for Nursing

It was clear that participants required support and re- sources related to understanding and deciding on GWS for their child. On the other end, genetic counselors have expressed challenges with GWS counseling and consent, and ensuring the patients understood the con- tent and its implications (Machini et al., 2014). To en- sure quality clinical practice, the ASHG recommends that HCPs involved with pediatric genetic testing need to have appropriate training (Botkin et al., 2015). With the expected growth of genomic testing, there may be inad- equate trained medical geneticists and counselors to sup- port patients and families. Therefore, clinical nongenetic HCPs may need continuing education and support to ad- dress the challenges related to integrating genetics and genomics into practice. The anticipated increasing num- ber and use of genetic and genomic tests will need more

genetic counselors, physicians, and genetically competent nurses (Botkin et al., 2015).

Nursing’s emphasis on patient advocacy (Hamilton, 2009), health promotion, caring, and understanding in- dividuals and their relationships (Calzone et al., 2013) brings a valuable perspective to the application of GWS. The profession has a commitment to being patient fo- cused by striving to understand patients’ and families’ perceived needs, priorities, and expectations for health care, and reorganizing services around those needs (Lutz & Bowers, 2000). Nurses have an intimate knowledge of patients’ and families’ perspectives, and are also skilled in communications, building partnerships, and understand- ing clinical processes and procedures as well as the bio- logic underpinnings of health and disease.

Nurses working in various areas can help incorporate genetic and genomic information into different aspects of the healthcare system. For example, nurses could help parents clarify their values and expectations, guide them to relevant resources, and work with genetic HCPs to sup- port the family through a shared decision-making pro- cess. Furthermore, the nurse may be the HCP that the patient or family is most comfortable with during the decision-making process. There are, therefore, opportu- nities for nurses to become more involved in supporting patients and families who are considering GWS. Informa- tion for nurses who are interested in learning about ge- netics, genomics, and nursing already exist (see Clinical Resources).

The need for nursing to continue educating its prac- ticing workforce in genomics and to be prepared to re- spond to patients’ GWS inquiries only grows (Calzone et al., 2013). Many nurses are unprepared to respond to patients’ genetic testing inquiries, and general nurs- ing competency in genomics remains limited (Calzone et al., 2012). In Canada, there is inadequate attention to genetics and genomics in nursing curricula at all levels (Bottorff et al., 2005). Current efforts to integrate genetics into Canadian nursing education are unknown. Efforts to establish and refine nursing competency in genomics are most well defined in the United States (Calzone, Jenkins, Prows, & Masny, 2011), the United Kingdom, and Japan (Kirk, Calzone, Arimori, & Tonkin, 2011).

Genomic technologies have far-reaching applications in health promotion, disease prevention, diagnostics, and treatment, and will become increasingly important across all areas of nursing practice.

Acknowledgments

This study was completed in partial fulfillment of the requirements for Karen Li’s Master of Science in Nurs- ing from the University of British Columbia. We offer our

272 Journal of Nursing Scholarship, 2016; 48:3, 265–275. C© 2016 Sigma Theta Tau International

Li et al. Parents’ Perspective in Genome-Wide Sequencing

enduring gratitude to all the study participants. We thank Dr. A. Townsend for her help with the focus group. We appreciate the efforts of Dr. L. Armstrong, Dr. W. Gibson, Dr. G. Horvath, Dr. A. Lehman, Dr. J. Rozmus, and Dr. C. van Karnebeek for their help with the recruitment of the study participants. This work was supported by grant ETG 922250 from APOGEE-Net CanGèneTest.

Clinical Resources � Essential Nursing Competencies and Curric-

ula Guidelines for Genetics and Genomics. Frequently Asked Questions: http://www. genome.gov/17517146

� Genetics and Genomics in Nursing: http:// www.genome.gov/17515679

� American Nurses Association and Personalized Medicine: http://www.nursingworld.org/genetics

� Journal of Nursing Scholarship Genomic Nursing Series: http://www.genome.gov/27552093

� Health Professional Education: Genomics and Ge- netics: http://www.genome.gov/17517037

� International Society of Nurses in Genetics: http://www.isong.org/index.php

� Journal of Nursing Scholarship Genomic Nursing Webinar Series: http://www.genome. gov/27552312

� Learn Genetics: http://learn.genetics.utah.edu/ � Learning Genetics: Learn about Exome Se-

quencing and Secondary Findings: http://www. learninggenetics.org/

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Supporting Information

Additional Supporting Information may be found in the online version of this article at the publisher’s web site:

Appendix S1. Ottawa Decision Support Framework Appendix S2. Information Sheet Appendix S3. Topic Guide

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