The Right to Know and Be Prepared

Most study participants felt that having access to carrier screening was important for people who are either considering pregnancy or who are already pregnant.^{13,14,16,18–21} Having the opportunity to know one’s carrier status and the potential risk of passing along a genetic condition to their child was considered supportive of their desires to be prepared and make autonomous reproductive decisions.^{13,14,16,18–21} Some people thought access to carrier screening qualified as a “right.” Courtney, who had been identified as a carrier of CF through a targeted screening program, felt this access was included within “a woman or a couple’s right to find out this information [about their carrier status]…people should be informed and have the choice (p. 2056, our emphasis).”¹⁴

People viewed the right to know as part of the expectational script of carrier screening — that is, the necessity (the “should”) of becoming informed, of knowing ahead, and of being prepared. Courtney was not alone in this sentiment. Although other study participants may not have put that pressure “to know” or “to become informed” on all prospective parents, this pressure or desire existed for themselves was evident. One pregnant woman who had been offered (and accepted) targeted, ethnicity-based HbP carrier screening felt that “it’s good that at least you have the choice if you want to know it. And, for myself, I’m kind of a control freak, and, yeah, I can imagine that it would be nice if you know in advance (p. 638).”¹⁶ Knowing in advance could, for this woman and some others,²¹ fulfill a need to have some control.

However, one does not have control over individual gene mutations or whether one is a carrier of some genetically inherited condition. In the context of carrier screening, people described control and its assertion as coming directly through reproductive decision-making. Another pregnant woman who had been offered (and accepted) targeted, ethnicity-based HbP carrier screening clearly articulated this movement from a desire for control to imagining how that control becomes asserted (or could be asserted) by noting that having that foreknowledge of carrier status is “…only a good, right? Probably it’s not the case [being a carrier], the chances are really small, at least that is what the midwife told us. But when you have that knowledge, you can make a better decision (p. 639).”¹⁶ Knowing in advance might offer a sense of control and put one in the position of making a “better decision.”

This idea of being in the position to make a better decision feeds into what made carrier screening so desirable for many study participants — preparation.^11,14,20,21 What this preparation, or expectation for preparation, looked like differed based on previous life experiences. However, the underlying common idea was that this knowledge would become actionable. To some women who lived through past difficult pregnancies or had previous miscarriages, the offer or availability of carrier screening was imagined as allowing them to look at, and become prepared for, their current (or future) pregnancy a bit differently by (hopefully) coming to know what might have affected that previous pregnancy.^14,16

For others, like Maria, who had been identified as a carrier of FXS through targeted carrier screening, the desire to become prepared through carrier screening stemmed from previous experiences with family members living with various, potentially unrelated, conditions. Maria described being “happy to participate” in carrier screening because “my partner’s cousin has a mental disability [so] we wanted to make sure we weren’t carrying anything… (p. 2055)”¹⁴ Preparation was becoming “sure we weren’t carrying anything” so that they could, perhaps, ensure they were only carrying a healthy child.

Genetic carrier screening was also described as having the added benefit of becoming prepared to live in a family, defined as a long-lasting couple with healthy children. Gulsen tied the importance of learning one’s carrier status to the foundation of what qualified as family and wanted to know how carrier screening might work within the context of possible consanguineous marriages. For her, children were central to marriage, and carrier screening could help identify potential partners who would be able to have healthy children. Not having children was out of the question if both potential partners were found to be carriers of the same mutation because “you want to feel like a family (p. 6).”¹⁷ In this case, to feel like a family is to have children — healthy children — in a long-lasting relationship. When timed appropriately, carrier screening can help identify with whom one is more likely to have healthy children to prepare to feel like a family.

Finally, in a few instances, some participants showed less interest in carrier screening, giving reasons such as the offer came too late (i.e., during pregnancies in which abortion was not an option),^15,21 feeling as though the knowledge gained through screening was not likely to offer anything actionable,^16,21 or not feeling that they were at risk of having an affected child.¹⁶

These are some of the ways in which participants across the included studies conceptualized the meaning of having access to carrier screening — and the types of expectations that could be included within those conceptualizations — and we have identified 3 key dimensions of access to carrier screening. First, people generally want access to carrier screening, although with a few exceptions. Second, for those who wanted access, this was often described as combined with the desire to “know ahead of time.” For these people, knowing their own carrier status was considered an indiscriminate good because it could help put them in the position to make a better decision. This was closely tied to the third point that being in a position to make a “better decision” meant being prepared. Carrier screening was expected to have fallout, but that fallout was also possible without screening, so “he and I would want to know…even if I couldn’t prevent it from happening…so we could be as prepared to deal with it as possible (p. 139).”²¹

Providing Information to People Eligible for Carrier Screening

Participants generally felt that people who were offered screening needed to be provided with information and the opportunity to make an informed decision about whether to proceed with screening or not.^13,14,18,19 As a woman who had been offered FXS carrier screening put it, “… it would be really important to fully educate [people] so that they know exactly what they’re dealing with…[and] all the possible implications… (p. 163).”¹³

For some, this education began outside the clinical encounter — even as early as high school.¹³ This was front of mind for geneticists reflecting on population-level carrier screening programs and the importance of providing the public with “neutral information” about the presence of carrier screening as an option. As a clinical geneticist noted, “If you are going to offer it, there must be some public campaign, saying that it’s there, but…if you are making a very big campaign, then people would think ‘Oh, I should do that, because otherwise I’m stupid and it’s my own choice to have a baby with a handicap.’ And that’s not the message I want to bring across (p. 4).”¹⁹

This view is connected with another clinical geneticist’s concern with combatting direct-to-consumer marketing in expanded carrier screening. Direct-to-consumer marketing was seen as placing too much responsibility for having a healthy child on the prospective parents. Pointing out the language from a private company, this geneticist noted that it “is just awful. It’s like ‘who doesn’t want to prevent the birth of a child with a genetic disease?’ And ‘it’s your responsibility.’ And it’s a very coercive way of informing the people (p. 4).”¹⁹ Too overt messaging about the presence and importance of carrier screening will diminish people’s freedom to choose on their own terms. Too little messaging, and no one will access the program.

One way considered by health care providers to be both informative and avoid the risk of being too prescriptive when presenting carrier screening as an option was to build distance and time between the presentation of information on carrier screening and the patient’s decision about whether to undergo carrier screening.^18,19 Their solution included using leaflets and online educational resources as tools for providing factual, but not leading, information to those considering carrier screening. As a clinical geneticist put it: “I could well imagine a system where you have a written leaflet and a very well, carefully constructed YouTube 5- to 10-minute educational video clip that people will be asked to access before testing… It’s [important] that people have leaflets, something web-based educational, information-giving resource (p. 4).”¹⁹

GPs are often people’s primary point of contact with the health care system, and they were seen as having a pivotal role (particularly during preconception) to play in informing their patients of the availability of carrier screening.^13,18 Geneticists in particular noted how important it was for GPs or other nongenetic health care professionals to be well-informed on program offerings and be competent and confident in their ability to walk through the features and potential outcomes of carrier screening with their patients.¹⁸

Making the Decision to Proceed With Screening or Not

Even with the effort of providing educational resources and tools, some health care providers were still concerned that people undergoing carrier screening might consider it routine pregnancy testing and not fully understand the implications of carrier screening.¹³ What qualified as an “informed choice” was called into question. One OB-GYN put it this way: “… [informed decision-making is] a great theory, and in practice it doesn’t happen, and Down syndrome is a classic example of that… I get women all the time who say, ‘My GP (general practitioner) told me to have this test’…they often have no concept of what the test actually is…haven’t thought through any of those issues…people will end up making uninformed choices… (p. 165).”¹³ The concern is that people who have been referred to (and accepted) carrier screening may not truly understand the implications of their decisions based on a single conversation with their GP, and that physicians may suggest screening tests as part of routine clinical care without more fully informing their patients on the ongoing process of managing carrier status results.

It is possible that some people engaged with carrier screening may be unsure about its purpose and sometimes equate it to other prenatal tests, as was demonstrated by some study participants.²⁰ However, even when people understand the purpose of screening, they may not accept its value and choose to undergo testing simply because it is available to them. As a woman who had been offered screening for HbP based on her ethnicity and had originally refused but later changed her mind put it: “Actually, it doesn’t say anything, so basically, what do you really know in the end? So, in that case I don’t want to test. But why shouldn’t I do it as I’m already having my blood drawn for another test anyway (p. 639).”¹⁶

This woman considered herself well-informed and originally decided to refuse screening. Yet, offering carrier screening at a time when other prenatal tests were occurring made it difficult to follow through with that refusal. Informed decision-making is about making an informed choice; that is, the ability to give informed consent and to give informed refusal. The convenience of directly accessing carrier screening through other screening tests can be experienced as pressure to consent even if one does not think it has value. Not only could an informed refusal be difficult for those contemplating testing (particularly for people who might already be pregnant), it could also be challenging for them to determine whether making informed decisions is truly just about having the right amount of information.

That this woman had tied her decision to undergo screening directly to the ease of looping it in with other (routine) prenatal tests might have implied to our OB-GYN that there was a risk that she had ultimately made an uninformed decision because of the offer of carrier screening in proximity to other (routine) prenatal tests. Although there were no more details about this woman’s decision, we see this woman’s “why shouldn’t I?” as a way of relating to a possible future in which something might come of screening.¹⁶ There is a potential at play in her “why shouldn’t I?” that cannot be known in advance but must, instead, be understood as a part of an unfolding process.¹⁶

Georgia, who had been identified as a carrier of FXS through a population-based, targeted screening program (looking for CF, SMA, and FXS mutations specifically), helped unpack this further. Although she described receiving “everything that I needed” to make the best decision, she and her partner “didn’t really feel the need to get down into a level of detail about each of the conditions because we couldn’t really relate and didn’t really think there was going to be…a large chance of us having to deal with that… (p. 2054).”¹⁴ In other words, Georgia and her partner expected to pass the test unscathed — to come out on the other end without “having to deal with that.”¹⁴ Given that neither she nor her partner were known to have an elevated risk of carrying any of the conditions being screened for, this expectation was not unfounded, and they could comfortably make their decision without intensive details about the potential conditions because they “couldn’t really relate” to them anyway. Nonetheless, they chose to pursue screening.

As previously illustrated, people connect their desires to know their carrier status to hopes of becoming prepared to live their best (reproductive) life, so accepting carrier screening in the context of other prenatal (routine) tests can be expected. Yet, people contemplating carrier screening seem to struggle to “really relate” to the conditions being screened for.¹⁴ This, as we understand it, is a crucial point of decision-making around potential carrier screening and the ramifications of undergoing (or not) that screening. Ameena and Sadeed, who had been identified as carriers of thalassemia through a publicly provided, HbP-targeted prenatal carrier screening program in the UK, described a similar experience of not being able to “really relate.” They decided not to undergo further prenatal diagnostic testing when they found out they were carriers of thalassemia. At the point of the interview, they had 4 children, at least 2 of which were carriers of thalassemia (first 2) and another had thalassemia. Here is how Ameena described their early engagement with their own carrier status and the challenge of “relating” to what it might mean outside of themselves:

I’ll be honest, you know when I got pregnant and they were saying, “You’re a carrier, and he’s [Sadeed, husband] a carrier and you might have a chance of having a major” [affected child], at that point in time I just didn’t realise how severe it was or how it would affect me or my child, you know. I just fobbed it off like, “oh you know, they say a lot of things…” and I didn’t think much of it… And then my first two [children] were carriers, so I was like, “oh it’s okay, you know, so like…” and then he [Taysir, third child] turned out to be the major. And they told us when he was little… And even then it didn’t sort of click to me and I thought, you know, okay, because I’d never read about it, I didn’t know exactly what it was, I’d never seen anybody with thalassemia, I didn’t even know it ran in the families at all. Because some of them were abroad and I wasn’t too much in contact with my dad, so I didn’t know much about it. And then they did a blood test about two months old and they said he’s really low in iron, we need to do his first blood transfusion, and I cried my eyes out. And that’s when it hit me, yeah,…that there’s something severely wrong here (p. 148).¹²

To relate to the reality of what their status as carriers of thalassemia could mean for their family, Ameena and Sadeed needed 2 children who carried the condition and a third who was affected by it. Only then did the severity of what living with thalassemia could mean “hit” them.¹² Only then could they relate to the condition that was screened for so many years earlier.

These reflections from Ameena, Georgia, and the unnamed woman share a need to understand that “becoming informed” and making decisions about carrier screening is something that is always in process. During this process, there are moments in which decisions to proceed with screening (or not) are made and become concrete actions that are taken. Yet thinking that these decisions are absolutely right or absolutely wrong (informed or not) would set up a false binary that assumes these decisions happen in a vacuum. We find this particularly well noted in a woman’s explanation for why she chose to accept the offer for carrier screening: “At this moment, I’ll just see what happens, and we do this test, and it turns out that I’m a carrier, then I would like to proceed with other tests of course. In the end, it’s all about my little one (p. 640).”¹⁶ For this woman, her decision to undergo carrier screening was explicitly couched within an ongoing process of “just see[ing] what happens.”¹⁶ For those contemplating testing, this decision is neither right nor wrong (informed or not), but rather oriented toward allowing them the ability to relate to the condition being screened for to unfold through time, and to unfold around their “little one[s].”¹⁶

Therefore, becoming informed is not just about having comprehensive information on carrier screening and its potential consequences, but also having facilitated deliberations that help people think through the sorts of potential ramifications involved with this particular decision. The focus is not just on the knowledge that carrier screening can provide, but also on the types of decisions it implies once results come back. This puts more responsibility on health care providers than simply sharing leaflets with their patients¹⁹ or hoping they have thought through “any of those issues” that might emerge from screening on their own.¹⁴ Instead, allowing their patients to change how they might relate to the conditions being screened for while centring on their potential (or existing) fetus might involve more deliberative thinking than refined information sharing. One woman who had been offered screening sums this up well:

It’d be good to speak to someone that could tell you, “Look this is a bit about it, these are the potential issues. Are you prepared to have the test? Because if you do carry this particular gene, you need to think about these other issues. Are you ready to perhaps know about that? Do you want time to think about it, or perhaps go away and discuss it with your partner, or to think about how you’ll cope with the results if they come back adverse to what you were hoping?” (p. 165).¹³

How one relates to the information given was described as affecting peoples’ decisions to proceed (or not) with carrier screening, but this was not the sole factor affecting decision-making. As shown in the following section, how one proceeds through carrier screening due to things like the form of program (e.g., targeted ethnicity based or broad population based), who it is offered to, and at what time points it is offered can similarly affect people’s experiences with carrier screening.

What is the Program and Who Can Access It?

The process of undergoing carrier screening and the related experiences with carrier screening are closely tied to the way screening programs are structured and offered (e.g., targeted ethnicity based or broad population based). For this review, while not always explicitly explored by study participants, there were a few different ways that people could engage with carrier screening. The majority of our studies focused on population-based expanded carrier screening^{11,15,17–21}; however, a few were population-based but only for specific conditions^12–14 and 1 was ancestry-based and targeted for specific conditions.¹⁶ For those studies that described how people might be screened and in what order, they were predominately sequential with female partners being screened first and then, if they were found to be carrying a genetic mutation of interest, their male reproductive partner would be screened.^{11,14,16,20,21}

This sequential process affected how people experienced carrier screening and the timing of the offer. Among studies investigating when carrier screening could be offered, there was a general consensus among participants that, when possible, it was desirable to have that offer at preconception.^{13,14,16–19,21} Although offering preconception screening to people could be tricky given that people do not always seek medical care for family planning (e.g., sometimes pregnancies just happen), the idea is that there are more reproductive options available at this time.^13,16,19 Given this trickiness, some people suggested that it would be possible to offer screening at the same time as other checkups with one’s primary care provider.¹³ For FXS in particular, some health care professionals suggested that screening could be offered to females at the same time as other relevant interventions such as contraception and Pap smears. It was thought that people coming in for these interventions would already be focused on “thinking about ‘my health’… And so, I think you piggy-back it at a good time when they’re already a captive audience about good health, I think that’s perfect (p. 166).”¹³

This does not mean that people who are already pregnant should not be offered carrier screening, just that a positive carrier status might lead to different types of fallout at this stage.^13,14,16,19 Additionally, once people are pregnant and need to pay attention to other routine prenatal tests, some may find it overwhelming to add carrier screening to the mix.^16,21 However, if already pregnant, people consider it helpful to be offered screening at a regularly scheduled appointments.^14,16,21

A geneticist went so far as to say that by the time “you have a pregnancy it’s too late (p. 3)”¹⁹; however, most other participants did not describe feeling it was too late even if it made the screening process more anxiety provoking than it might have been at preconception. As Chloe, who was identified as a carrier of CF while pregnant, put it: “It definitely made it more stressful for us because we were already pregnant…had we had the test done…a year ago…I think we still probably would have gone through similar emotions but not with the same gravity… (p. 2057).”¹⁴ Although the feeling of being a carrier might have been the same had she been identified at preconception, the gravity once there was already a fetus involved made it and the attached decision of what to do much more stressful. This could particularly be the case for pregnant people undergoing a sequential screening process.¹⁴

With these timing challenges, people, particularly geneticists, also commented on who should be screened and for what purpose.^18,19 Although there was general agreement that carrier screening programs, at least those that are publicly provided, should be reserved for couples considering pregnancy or who are already pregnant, some people indicated there could be some value in offering screening to single individuals as well given this information might help other family members learn about their own status. However, geneticists included in this review were committed to the idea that “the goal of screening is to find carrier couples. It’s not interesting to find individual carriers because this doesn’t have any consequences. Any medical consequences (p. 3).”¹⁹ The utility or importance of carrier screening for clinical geneticists is its clinical actionability.

There also could be other goals of carrier screening. As another geneticist noted, it is possible that an individual may want to undergo carrier screening even if their partner does not because it may be useful to other family members considering having children or, if already pregnant, they may no longer be with that partner.^16,18,19 For example, a pregnant woman who was no longer with the father of her unborn child indicated that if she could undergo screening without him, “I would choose to do that, as long as it’s not too complicated (p. 640).”¹⁶ While uncertain if undergoing screening alone was an option for the carrier screening program she was offered, this was desirable as it might still offer some information as to the risks her child might carry.

There were also discussions about whether test results should be separated out by partner and returned even if only one member carried the genetic variant or if they should return results of genetic variants both partners carry as only these are actionable. For example, the majority of geneticists included in the studies by Janssens et al.^18,19 felt that it was important to return individual results — even if they had previously objected to screening individuals alone. One of the ways this was rationalized was by noting how common it is for people to change reproductive partners throughout life.

This was not supported by all geneticists involved in this study as at least 1 argued that:

If you are trying to set up a public health exercise and to identify couples at increased risk of a child with a severe recessive condition, then you should stick to that [goal] and not communicate things that are not [relevant] to that … [You should] make it very clear that even if they say, “I want my individual results,” that’s not something…that you feel is justified in your public health exercise. If your aim is something else altogether, then you might say differently (p. 5).¹⁹

In the following section, we will further draw out how sequential program design might affect experiences with carrier screening – particularly those who already pregnant.

Surprise at “My Own” Status and Anxiety Throughout Partners’ Testing

Given that the majority of study participants were offered screening as part of a population-based program rather than a targeted program based on family history or ethnicity, people often expressed surprise at being identified as carriers of some condition.^14,20 As Julia, a woman who had been identified as a carrier of SMA, put it, “Neither of us had any sort of family history or anything that would have indicated there could have been a problem. I guess I was a bit shocked actually, at the time [of receiving the result]… (p. 2055).”¹⁴

Paired with this shock was now the question of what to do. As discussed previously, it is possible that people make their decision about carrier screening with a sense of ambivalence and the expectation, as Georgia put it, that nothing would be found. Although this question of what to do could be challenging for all prospective parents regardless of program design, it could be particularly so for those undergoing screening as part of a sequential program.

Between the shock of receiving a positive carrier status result and the reception of a partners’ carrier status result, there seems to be a sort of temporal effect at play for these sequential programs.^11,14 For example, Karen, who had just been identified as a carrier of SMA, called herself a “doer” and described how thankful she was for the speed with which the genetic counsellor set up her partners’ screening because “it would have been a long night had [they] said I can’t test your husband until next week (p. 2055).”¹⁴ This person described anxiety building up if they were not able to be tested right away.

Not only might this temporal effect lead to serious anxiety and restlessness, but it could also, for those who are already pregnant, disrupt the growing relationship between pregnant person and the fetus they are carrying. Grace, who was also identified as a carrier of SMA, had previously terminated a pregnancy due to fetal abnormality and this period of waiting for her partners’ results required a sort of pivot in which she “…tried to not even think that I was pregnant for that week ‘cos I tried to get myself mentally prepared for going through what I went through last year…just to make it easier on myself… I was trying to…not even think about the baby as much and not to talk about it as much in that week… (p. 2055).”¹⁴ For Grace, the period between the return of her own test results and those of her partner involved passing in and out of different time frames, including “what she went through last year” to protect herself from what she might be going through under these new circumstances.

Georgia, who we have already met and was identified as a carrier of FXS, could relate to not wanting to imagine a future: “At this stage, I was viewing this pregnancy as temporary, like a temporarily maybe kind of thing, I didn’t want to commit to the pregnancy…like I didn’t want to look [at] any baby clothes, I didn’t want to start planning for the future, or like planning too seriously for this baby because I didn’t know whether or not we were going to have it… (p. 2055).”¹⁴

Sally, who had been identified as a carrier of CF, said something similar about this interim period, but with slight nuance. Grace and Georgia both described their response during this time as a way of not “thinking” about or “committing” to the pregnancy, but Sally pointed toward the already existing attachment between her, her partner, and the fetus. At that point, it was too late, as the geneticist might have said, because the future had already been imagined: “It was scary to get a [carrier] result because then we had to…have the discussion of, well, what happens if my husband came up positive and we would then decide what to do, that was obviously really scary to…have to consider abortion… I was well and truly attached and so the thought of having to abort was really devastating (p. 2055).”¹⁴

Sally articulated a sense of responsibility or “having to” during this interim period and just how devastating this could be. Even before knowing whether their fetus was at risk of being a carrier of or having CF, Sally and her partner were forced to consider abortion. Ultimately, her partner might not have been a carrier of the same mutation, but the sequential design of the program forced them to already live in the possibility of “having to” abort the fetus.

Although none of the study participants directly spoke about a desire to have screening programs in which both partners were screened simultaneously, it is possible that the anxiety and the devastation caused by needing to think through difficult decisions to abort (when already pregnant) could be potentially avoided with simultaneous screening programs. It is possible that both partners could be found to be carriers of the same mutation and they would need to think through their options accordingly but avoiding unnecessary anxiety and devastation is likely desirable by people undergoing carrier screening — particularly if they are already pregnant.

Regardless of when screening happens or in what order, people who have been screened will ultimately be faced with how to proceed with that new information. In the following section, we briefly describe how challenging it can be to work through the results of carrier screening and apply them to one’s reproductive decision-making.

The Challenge of Working Through What the Results Mean

Sally’s struggle with what to do and the deliberation while waiting on the results of her partners’ screening were typical of study participants who had undergone carrier screening prenatally. Although some noted that an abortion was not an option,^17,20,21 for the majority this remained on the table. Coming to that decision was difficult and required input — particularly from geneticists who could help make sense of what the results might mean.

People described truly appreciating the opportunity to speak to a geneticist upon receiving their result. For example, once Georgia had been identified as a carrier of FXS, she described finding her conversation with a geneticist as helpful in coming to understand what FXS “is”:

When I got the call from [the genetic counsellor], she was extremely informative and I got a really good grasp of what it actually is and what my chances were of, or what the baby’s chances were of, actually having a full mutation of the condition…we probably sat on the phone for 40 to 45 minutes or so as she explained to me what it actually was, so that was extremely helpful… (p. 2055).¹⁴

When coming to an informed decision about whether to pursue carrier screening or not, Georgia’s conversation here fits with an understanding of decision-making and consenting to screening as situated within a process that requires ongoing contact with health care providers — in this case, geneticists. Georgia and the earlier examples indicate that simple high-level informational sharing (leaflets) is not enough; information about carrier screening requires an appropriate level of resources to provide counsel and as a foil for deliberation. As such, it is possible that providers and counsellors might need to be more involved than they feel comfortable given they are not simply sharing “neutral information.”¹⁹

People did not necessarily turn to genetic counsellors to make their decisions or deal with the news. Rather, they described also turning to partners, family members, friends, colleagues, and the internet for support at this point.¹⁴ Although a genetics counsellor might be able to help make the “difficult process as easy as it can be (p. 2056),” if they are empathetic, reassuring, and non-judgmental,¹⁹ many participants expressed that they might be able to help know what it’s like to live with the condition. Although a specialist working in the field of the potential condition might be helpful in this regard,¹⁹ many people described resorting to the internet for this support.^11,14

Georgia also described watching YouTube videos of “what it’s actually like to live with a child who has the fully mutated fragile X gene…[and] seeing that I kind of thought oh goodness this isn’t just a small disability, this is severe… (p. 2056).”¹⁴ Much like previous challenges of not “really relat[ing] (p. 2054)”¹⁴ to the conditions being screened for, we read this perusal of YouTube as an attempt to relate. This could help or, as seen with Ameena and Sadeed, Georgia and her partner might not be able to truly relate to the severity of FXS (in their case) until they have a child with the condition.