Hope versus reality: Parent expectations of genomic testing

Abstract

OBJECTIVE:

Genomics is increasingly used for diagnostic testing in children. This study describes the expectations of parents whose child received genomic testing and whether or not they were met.

METHODS:

A diverse stratified, purposive sample of parents of 22 children in New York City was interviewed using a semi-structured guide. Genomic test results were positive, negative, or uncertain.

RESULTS:

Parents expressed their expectations in narrative and numeric fashion. Parents expected that their child’s test would have a direct effect on their child’s diagnosis. Some believed that results would be definitive, while others recognized testing limitations. Expectations reflected parents’ hope to find a diagnosis and led to disappointment when results were uninformative or did not impact clinical management.

CONCLUSION:

Results suggest pre-test genetic counseling emphasize the low likelihood of actionable results; however, parents’ expectations of genomics’ diagnostic capabilities are strongly rooted in their need to end the diagnostic odyssey and may be difficult to manage.

PRACTICE IMPLICATIONS:

Parents’ hope for a resolution and effective treatment for their child is a powerful context in which genetic counseling is heard. Clinicians who provide genomic testing should continue to acknowledge parents’ preconceptions. Additional research in other settings will help understand how to best address and manage parent expectations of genomic medicine.

1. INTRODUCTION:

The success of the Human Genome Project ushered in hopes that medicine would provide every patient with comprehensive genomic testing.[1] In less than twenty years, genomic testing options have expanded from chromosome analysis and single gene sequencing to next generation sequencing, providing great capability to analyze patient data.[2] The potential of genomic medicine to provide risk assessment, diagnosis, prognosis, tailored treatment, and preventive care at decreasing costs has gained attention not only in clinical settings, but also in the media and among the public.[3, 4]

Despite the excitement surrounding the integration of genomics into clinical care, limitations and challenges remain. Advances in genome-based testing, including that of microarray, targeted gene panels, and exome and genome sequencing (ES/GS), have shown increases in diagnostic yield. Yet even with ES/GS, which often yields 15–30% positive results depending on the indication for testing, this leaves the majority of patients tested without a diagnosis.[5, 6] Numeracy heuristic research has shown that patients often consider this diagnostic rate low.[7, 8] Many patients undergoing genomic testing receive uninformative results, which may cause anxiety and adverse psychosocial outcomes.[9, 10] It can also be argued that there is a publication bias in the scientific literature and mainstream media regarding genomics, which often reports patient “success stories” and touts the promise of genomic medicine. It is important to recognize this bias and consider that success is experienced in a minority of cases, with 70% or more not receiving a diagnosis from genomic testing.

Previous studies have explored the perceptions of patients who have undergone genomic testing, particularly parents of pediatric patients with myriad symptoms yet undiagnosed conditions.[6, 11–13] Parents report a variety of expectations for genomic testing. One qualitative study of parents whose child had ES reported that most hoped the test would provide a diagnosis for their child, with others skeptical due to past disappointing experiences. Many worried that a diagnosis, if identified, would be lethal, thus causing anxiety about possible results.[6] Other studies have shown that parents expect genomic test results to provide clinical utility, no matter the outcome or classification of the result as positive, negative (sometimes referred to an ‘uninformative’ in the literature), or uncertain.[9, 14]

The majority of these studies regarding parental expectations in genomics, however, were conducted in the context of a research rather than a clinical setting.[6, 13–18] Research contexts have unique circumstances (e.g., inclusion/exclusion criteria, protocolized counseling) that may influence these findings. We sought to understand the lived experiences of families who received genomic testing as part of their clinical care. In particular, this study aimed to understand parents’ expectations of genomic testing and whether they are being met by current clinical practices. Interviews were conducted with parents of children who had been tested within the past year as a part of their clinical evaluation. The sample was designed to reflect the diversity of New York City (NYC), including white, black, and latinx parents, and over 77% of participants met the diversity definition set by the National Human Genome Research Institute (NHGRI) and Health Resources and Services Administration (HRSA).[19, 20] An improved understanding of parental expectations of clinical genomic testing for children will inform future genetic counseling efforts and include parents’ voices in the process.

2. MATERIALS AND METHODS:

We conducted semi-structured interviews with parents of 22 index children ages 0–18 who had undergone exome sequencing, targeted gene panels, or microarray to diagnose a genetic etiology of a neurologic, immunologic, or cardiac disorder. Diagnostic testing was ordered within the past 12 months at two large hospital systems in New York City. All patients were provided clinical pre- and post-test genetic counseling from either a geneticist, genetic counselor, pediatric cardiologist, or pediatric neurologist. Parents were English or Spanish speaking and lived in the NYC area. A stratified, purposive sampling approach was used to recruit parents of children from diverse racial and ethnic backgrounds as well as classification of results. Letters were mailed to 90 eligible participants, followed by phone calls to determine interest.

This research is a part of the Clinical Sequencing Evidence-Generating Research (CSER) consortium, a multi-site program investigating the integration of genome sequencing into clinical care, particularly for diverse and medically underserved individuals.[21] It was approved by the Institutional Review Boards (IRB) of the Icahn School of Medicine at Mount Sinai and the Albert Einstein College of Medicine/Montefiore Medical Center. The formative interviews also aided in the development of the randomized control trial, NYCKidSeq[22].

The interview guide was developed to address expectations of results, perceived purpose of genomics, experience with genetic counseling and genomics, and emotions. Narrative interviewing allowed the parent to tell the story of the genetic testing experience with his/her child, while focused interviewing allowed for in-depth exploration of the reactions reported in the story description. It was then piloted with two senior qualitative researchers and two parents of children with chronic conditions. [23, 24] The interview guide was also developed to inform the development of a patient-friendly, digit tool to facilitate genomic test results disclosure.[25] Demographic information was collected from medical records, including race/ethnicity, age of the child, and the laboratory classification of the child’s results. Parents could opt for the interview in English or Spanish. Participants received a gift card and their transportation costs were paid. All interviews were conducted in person and averaged about one hour.

The language used in the interview guide and in this manuscript mirrors what was told to the participants by the clinicians who provided genetic testing and counseling. Therefore, the terms ‘positive,’ ‘negative’ and ‘uncertain’ are used to describe the child’s genetic result classification, rather than ‘positive’ and ‘uninformative,” which are being used more frequently[26, 27]. The authors recognize that genetic result classification nomenclature is evolving; however, the terms used here have been kept consistent with what was described to the participants at the time of results disclosure.

The data collection team had no interaction with participants prior to screening for the study. These individuals, one male and three females (two of which were Spanish-speakers) received training in interviewing skills.[23, 24] Interviewers wrote reflective memos to capture contextual data and other relevant information that would not otherwise be available to the analysis team. Interviews were audio-recorded and transcribed. Each interview was assigned a family ID to protect confidentiality. All Spanish interviews were translated into English for analysis.

Analysis was conducted using grounded theory’s constant comparative method by a multidisciplinary team including genetic counselors, a geneticist, a sociologist and public health researchers with qualitative methods expertise. [28] Analysts first conducted case-based analyses of each interview. The analysis team (KED, SMD, DW, KMG, JAO, SAS, NT, LJB) participated in weekly meetings to identify recurring concepts across individual cases to develop the codebook.[29] Following the assembly of an initial codebook, each team member independently applied it to a single interview to determine areas of agreement and disagreement across coders and to clarify code definitions and appropriate labeling of themes. Groups of two coders (one clinician and one qualitative methodologist) then applied the codebook to a second interview until consensus was achieved on current and new code applications within and across coding groups. This process was repeated until all interviews were coded by the two-person groups until saturation was reached, alongside weekly meetings to resolve issues identified and discuss higher order theme development.[28] Individual analysts developed thematic memos to document emergent findings. Quoted data are presented with the following descriptors: (Family ID, Parent race/ethnicity, Child’s result classification).

3. RESULTS:

Out of the 90 eligible participants contacted, parents of 22 eligible children enrolled in the study, 33 were not interested in participating, and 35 did not respond. Twenty-four parents total were interviewed, including 20 mothers and two parent pairs (mother and father). Twenty-two parents completed the interview in English, while two in Spanish. Ten of the parents self-identified as Latinx, five as Black, seven as white, and two identified as more than one race/ethnicity. Note that the two mother-father pairs both identified as white (Table 1). The sample of parents was stratified based on self-identified race/ethnicity and testing results classification of the 22 index children: five Black/African American children, ten Hispanic/Latinx children, five White/European American children, and two who reported more than one race or ethnic group. The average age of children at the time of testing was 6.4 years. The genomic test results were negative (n=10), uncertain (n=7), or positive (n=5) (Table 2). The average length of time between receiving genomic test results and completing the study interview was 182 days (range: 18 to 365).

Table 1.

Parent Demographics (n=24)

Demographic (n=24)
	n (%)
Gender
Male	2 (8%)
Female	22 (92%)
Race/Ethnicity
Black	5 (21%)
Latinx	10 (42%)
White	7 (29%)
>1 race/ethnicity	2 (8%)
Interview Language
English	20 (91%)
Spanish	2 (9%)

Table 2.

Index Children Demographics (n=22)

Demographic	n (%)
Gender
Female	7 (32%)
Male	15 (68%)
Ethnicity
Black	5 (23%)
Latinx	10 (45%)
White	5 (23%)
Multi-racial	2 (9%)
Phenotype
Neurologic	17 (77%)
Cardiac	3 (14%)
Other	2 (9%)
Results classification
Positive	5 (23%)
Negative	10 (45%)
Uncertain	7 (32%)
Age of child at testing, mean (range), years	6.4 (0–15)

Three major themes related to parental expectations of genomic testing were identified in this analysis (Table 3). First, parents of children who had undergone genomic testing had varied a priori expectations of the tests and expressed these expectations in both narrative and numeric fashion, which often mirrored an anticipated diagnostic yield. Second, we found that these expectations were deeply rooted in their profound hope to end their child’s diagnostic odyssey but were weathered by their personal experience with illness and genetics. Finally, parents reported that when the genomic test results were returned, most of their expectations were left unmet. Disappointment was the most common reaction to the genomic test result, which occurred for many parents despite the test result (positive, uncertain, or negative).

Table 3.

Themes Identified

Theme 1. Parental expectations varied and often referred to diagnostic yield

Example Quotes:  “I didn’t expect it to be 100 percent of [the time,] ‘okay now we know.’ But I was hoping it would point us in the direction, in the general direction of what caused [my child’s symptoms]” (F12, Black Mother, Uncertain).

Theme 2. Parental expectations are based in hope and personal experience

Example Quotes:  “I really wished that it was 100 [percent] accurate, it would give me the whole detail, but he told me that it was not going to be 100 percent. It was just going to be 99 or less, because we don’t have the whole detail of the family” (F14, Latinx Mother, Uncertain).

Theme 3. Unmet expectations are common and disappointment can be severe

Example Quotes: Positive result:  “It’s so rare they are still doing research on it…. So I really have more questions but no answers. […] I just left there the same way I came. Just like there’s nothing I can do. You know I was hoping to get something else. Okay, this is the plan this is what we are going to do, we are going to help her. But, I went there and got nothing” (F15, Latinx Mother). Negative result:  “I guess I felt that I was going to get the answer on what was the problem. Everything else was just more the estimate, and it’s not really a concrete thing. […] It was just weird, a lot of confusion. It’s like you think that it’s going to be more to be done, or there’s more to be found out, but then there really isn’t” (F05, Latinx Mother) Uncertain Result:  “I expected more. I expected they were gonna know where it came from. […] My son, he was sad when we left because he felt like it didn’t help. The genetic testing didn’t help. [...] he said that they would’ve gave him surgery or they would fix it. They would’ve fixed his heart” (F18, Black Mother).

3.1. Theme 1: Parental expectations varied and often referred to diagnostic yield

Parents expected that there would be a direct connection between their child’s genomic testing and their child’s diagnosis or symptoms. Parents were asked, “How clear did you think the test results would be?” The answers ranged widely. These pre-test expectations were explained not only in narrative form, but also in a numerical fashion without prompting from the interviewer. Some parents believed genomic testing would provide a definitive answer to explain their child’s symptoms. One parent stated, “99.9%, because blood, x-rays don’t lie” (F03, Black Mother, Negative). This response reflects confidence in medical testing in general. Another said similarly, “I expected them to be clear and definite, because with a blood lab, you know all that always comes out” (F17, Latinx Mother, Positive). Most parents, however, knew that the test might not provide an answer for the child’s unexplained health problems, but believed that new discoveries in genomics might provide additional information in the future:

“I didn’t expect it to be 100 percent of [the time,] ‘okay now we know.’ But I was hoping it would point us in the direction, in the general direction of what caused [my child’s symptoms]” (F12, Black Mother, Uncertain).

“I don’t expect that to just come off of some blood and be like, this is exactly how it happened, why it happened, and this is what’s going to – I don’t really see that really happening, because it’s complicated. […] we’re kind of prepared to like not know for sure” (F10, Latinx Mother, Negative).

Some parents expected negative results from the start because they viewed the test’s purpose was to ‘rule out’ a genetic problem rather than find a diagnosis: “We got the results back and they showed nothing. We knew that going in. And it was ruling stuff out” (F19, White Mother, Negative).

One stated that despite pre-test genetic counseling, they still did not know what to expect when receiving genomic results: “I have mixed feelings about it. I wasn’t really sure what to expect. I was just wanting to know how would they be able to help him with these delays” (F08, Black Mother, Uncertain).

3.2. Theme 2: Parental expectations are based in hope and personal experience

Although the majority of participants discussed the likelihood that tests could provide a diagnosis, parents often expected a result for their own child that differed from the estimated diagnostic yield. These expectations reflected their personal experiences and were deeply rooted in a profound hope to have an explanation for their child’s symptoms. Parents spent a considerable amount of time describing the process that led them to genomic testing, which often started by telling the story of how their child became ill. The time period from initial onset of symptoms to a final diagnosis, or the ‘diagnostic odyssey,’ can last for years for children with rare diseases and involves many visits to multiple providers:

“He don’t walk, he doesn’t talk, he has the Mic-Key button, but at the beginning it was the PEG. When he was born he went into respiratory [distress]. So, he was in the NICU for about 12 days. And then after that like when he was three months […] I started noticing like he couldn’t eat. He didn’t know how to suck, so that left him in the hospital for that and then he had a heart thing and then….so, all these complications that’s what took us to the genetic test” (F13, Latinx Mother, Negative).

These long diagnostic odysseys weathered parents. One mother, whose child had multiple genetic tests, pointed out what she wished for versus what was realistic. She said the likelihood of finding a diagnosis was:

“Half, I could say like 50/50 … maybe I did expect a definitive answer, but I kind of braced myself for not – I just learned to, like, live with the fact, you know, it just kind of happened on its own and we’ve just got to deal with it” (F10, Latinx Mother, Negative).

Another mother acknowledged the difference between her hope and reality:

“I really wished that it was 100 [percent] accurate, it would give me the whole detail, but he told me that it was not going to be 100 percent. It was just going to be 99 or less, because we don’t have the whole detail of the family” (F14, Latinx Mother, Uncertain).

Parents hoped for certainty regarding the genomic test results even though they had been advised that certainty could not always be provided. As one parent pointed out, “I know that genetic testing is not always 100 percent, but sometimes you could get an answer. So, knowing that I had, like I said, experience, I said let me see” (F11, Latinx Mother, Uncertain). Others had more modest expectations, but still hoped for the certainty inherent to a positive result in order to provide better treatment for their child:

“When you go for any test, you’re just hoping to have some concrete written in stone answer. […] What we still hope for is that we can give maybe some concrete definite reason of why he has this and how it’s going to affect as he gets older, especially when mom and dad aren’t around. How we can be able to start supporting as he gets older” (F04, Latinx Mother, Negative).

3.3. Theme 3: Unmet expectations are common and disappointment can be severe

Parent expectations are formed not only in response to pre-test genetic counseling, but also from personal experiences with the healthcare system and in some cases, the child’s diagnostic odyssey. Thus, whether parents’ expectations were met varied considerably. Some parents stated that their expectations were met and some said they were not. Three parents reflected favorably on the utility of genomic testing (two with negative results, one with a positive result). One mother stated that it allowed her to feel like she had done everything she could do to take the best care of her child:

“I can’t imagine sitting here and having not done the genetic testing. So, although it didn’t give us any concrete answers about what is happening, it gave us a lot of answers about what’s not happening. … it was comforting in the sense that we’re doing literally everything we can” (F19, White Mother, Negative).

For her, a negative test result was reassuring because it ruled out worrisome diagnoses that had been considered in the evaluation and differential diagnosis of her child:

“It was really reassuring to know that it wasn’t like one of the really scary cardiac-based genetic things that could cause someone to like die in their sleep which was at first was scary because we have a younger daughter so ruling that out was great” (F19, White Mother, Negative).

Another expressed similar relief and reflected a belief that the genomic testing information is inherently valuable.

“I feel like at least with [the testing] it all came back negative so we still don’t have any answers, but we do know it isn’t any of these - we ruled out all these terrible, terrible genetic conditions. So, that at least is a relief in some respect […] So, I just think the more you know the better off you are to tackle everything” (F22, White Mother, Negative).

In instances where parents received positive genomic testing results, most responded favorably because it ended their diagnostic odyssey. These parents found great relief and therefore felt that testing met their expectations:

“… I feel happy because today I have the name of the disease my daughter has and I know that they are going to find something for that disease. For 11 years I didn’t know what my daughter’s illness was and the doctors I had weren’t the right ones to treat her, and now they do […] because of what genetics did. … And now they’re attentive to her illness and they are going to give her the right treatment” (F09, Latinx Mother, Positive).

Parents, however, were still left with lingering questions and unresolved issues with their children’s health. This was seen not only with parents whose child had negative or uncertain test results, but also with those who had positive results. Often the clinical implications were unclear to parents:

“It’s so rare they are still doing research on it…. So I really have more questions but no answers. […] If I know, I know what to expect. Okay, I could live with it. But the not knowing kills me… it’s horrible, horrible because I didn’t get really no answers. You know I just left there the same way I came. Just like there’s nothing I can do. You know I was hoping to get something else. Okay, this is the plan this is what we are going to do, we are going to help her. But, I went there and got nothing” (F15, Latinx Mother, Positive).

Parents described frustration and disappointment which was connected to a variety of unmet expectations. One parent reflected on her partner’s frustration with the experience both in terms of logistics as well as future decision-making:

“… he was more bothered probably, because he was like, ‘Man, I took a day off of work, you know. I used a sick day and we really – we’re still in the same place.’ [...] It definitely doesn’t feel good, because again, we went in with an expectation of not just only of the results, but how to – how we were going to proceed in continuing to support [our son] as he goes into adulthood. Now we’re still stuck in the same place where we’re just going day by day, year by year, and wherever he needs extra support is how we try to find him extra support. [...] We walked in and walked out just same way.” (F04, Latinx Mother, Negative).

Another expressed the dashed hope that genomic testing was going to provide the answer they were looking for:

“I guess I felt that I was going to get the answer on what was the problem. Everything else was just more the estimate, and it’s not really a concrete thing. […] It was just weird, a lot of confusion. It’s like you think that it’s going to be more to be done, or there’s more to be found out, but then there really isn’t” (F05, Latinx Mother, Negative).

High expectations of testing seemed to lead to especially deep disappointment:

“I expected more. I expected they were gonna know where it came from. […] My son, he was sad when we left because he felt like it didn’t help. The genetic testing didn’t help. [...] he said that they would’ve gave him surgery or they would fix it. They would’ve fixed his heart” (F18, Black Mother, Uncertain).

These unmet expectations left most parents with uncertainty and subsequent disappointment and despair. “The uncertainty is hard especially when it’s the health of your child and even the physicians aren’t really sure what’s up it’s easy to go to a lot of dramatic, sad places in your mind” (F19, White Father, Negative).

Disappointment was also expressed by parents whose child received a positive genomic test result, but it did not provide additional guidance for treatment or clinical management: “I thought I was going to get like ‘this is what she has’ so then I could know how she could be treated and how I could go forward. But, there was no ‘this is the answer’” (F15, Latinx Mother, Positive). One parent expressed her frustration with repeated testing in the setting of no possible treatment or cure for her son’s previously identified deletion. “Okay, he has to get retested, and I don’t know why, because if the deletion is still there, why you have to retest them? If it is not going to come back, why you got to retest them?” (F06, White Mother, Uncertain)

Ultimately, the majority parental experiences with testing were characterized by disappointment and unmet expectations. Looking for answers for their child’s symptoms, one parent summarized the often-mixed emotions that come with the genomic testing experience:

“I mean, it’s like on one hand you’re really happy, and on the other hand you’re frustrated because it’s like you don’t want anything to be wrong, but then there obviously is something wrong and you still don’t have an answer and, unfortunately, it’s out of any doctor’s control. If there’s no answers, there’s just no answers. So, it’s like good and bad all at the same time” (F22, White Mother, Negative).

4. DISCUSSION AND CONCLUSION:

4.1. Discussion

Breakthroughs in genomic medicine’s ability to diagnose disease are often reported in the literature and receive much deserved attention. Most parents approach their child’s genomic testing with high hopes – even when pre-test genetic counseling may have advised them otherwise.[30–33] This study demonstrates that the inherent hope in the promise of genomics for many families surpasses the reality of limited genetic explanations for disease, leading to unmet expectations and disappointment.

Parents had a wide range of expectations regarding genomic testing, which were influenced by their own experiences with genomics and the child’s illness. While some parents were able to tell interviewers the diagnostic rate for the genomics test performed, most expectations were heightened by the desire to end the diagnostic odyssey. Previous studies have demonstrated that an individual’s risk perception is influenced by multiple factors, including personal experience, cultural background, psychological and spiritual aspects. These factors inform heuristic modeling of patients towards genomic health risk.[33–36] Our data show that these heuristic models apply to parents’ perception of genomic testing’s diagnostic capabilities. Disappointment was expressed not only when test results were negative or equivocal, but also when a positive result did not change management. Even with diagnostic capability, genomic testing is often not the end of the diagnostic odyssey.[6]

Most parents were disappointed by genomic testing and felt that the effort put into the testing process did not produce anticipated benefits. Previous studies of parents whose children had undergone genomic testing have shown that many do find clinical utility in uncertain or negative results.[6, 14, 37–39] This is in contrast to our study population who found little to no utility in uninformative results and therefore expressed unmet expectations. Understanding instances where expectations are not met in medicine is crucial, for if not addressed, they can result in decisional regret, dissatisfaction with healthcare, and decreased trust in healthcare providers.[40–42] To our knowledge, this is the first study that specifically explores unmet expectations of parents in pediatric genomic testing. Awareness of unmet expectations of parents’ whose children undergo genomic testing will help to enable genetic professionals to better understand the patient perspective, involve families in decision-making processes, and improve communication.[43] Further studies are needed to explore unmet expectations in genomics to improve patient and family satisfaction.

This study enrolled parents whose children received clinical genomic testing, and therefore pre-test counseling was not standardized. We were unable to assess the effect of genetic counseling styles, which may have differed among providers. Another limitation is that participants were asked about their expectations of genomic testing after they had already received the results. Their retrospective recall could have been biased with time. Further work is needed to examine these identified themes prospectively in other geographic populations.

4.2. Conclusion

This study highlights the experience of a diverse New York City cohort with clinical genomic testing. Parents alternate between hope and reality due to underlying circumstances that may have contributed to unmet expectations. Our findings suggest that parents harbor preconceptions about genomic testing that may be difficult to temper in the clinical context. Individuals who order genomic testing and provide genetic counseling should continue to acknowledge parents’ preconceptions. As the field continues to expand clinically, further research is needed to explore satisfaction with genomic medicine and how to best address expectations. This includes quantitative studies with larger sample sizes informed these qualitative findings.

4.3. Practical Implications

Previous research has highlighted that uncertain results lead to anxiety, frustration, and confusion for families and recommend appropriate pre-test counseling, including incorporating an “ethics of uncertainty” into genetic counseling practices.[15, 44, 45] This study, along with others, supports the need for pre-test counseling techniques that promote realistic expectations of the outcomes of genomic testing in order to mitigate negative responses to the testing experience.[10, 46, 47] We also recognize that despite efforts made by healthcare providers in pre-test counseling to temper expectations, this is a difficult task. Similar to how individuals perceive risk, a patient’s perspective of genomic testing utility has many influences, such as familial and personal experience, belief systems, stress and perception of vulnerability.[35, 48] While there are tools and techniques that aim to mitigate this, it may be unreasonable to believe that this can be fully accomplished, especially in a culture that glorifies genomic medicine as the “magic bullet”.[49, 50] Tempering expectations should be supported not only for parents but also for healthcare providers, who must reinforce that the current diagnostic yields in genomics do not result in the majority of patients receiving actionable findings. While hope in the promise of genomic medicine is well-founded, this study shows that an understanding of the current reality of its capabilities should be considered when counseling families.

HIGHLIGHTS:

• Expectations of parents whose child received genomic testing are variable.

• Expectations are expressed in narrative and numeric fashion.

• Expectations reflect parents’ hope to end diagnostic odyssey.

• Disappointment occurs when results are uninformative or do not impact management.

• Clinicians who provide genomic testing must continue to acknowledge parents’ preconceptions.