Resignifying the sickle cell gene: Narratives of genetic risk, impairment and repair

Berghs, Maria; Dyson, Simon; Atkin, Karl

doi:10.1177/1363459315595850

Cited by 10 publications

(8 citation statements)

References 32 publications

(43 reference statements)

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“…Desire for a biological child has been previously demonstrated within those with SCD 24 and should be explored further in regard to IVF/PGT or in utero hematopoietic stem cell transplantation. Any educational campaigns regarding reproductive options should be sensitive to potential ethical or religious concerns as well as differing perceptions of SCD between varying communities and the medical field 25 …”

Section: Discussionmentioning

confidence: 99%

Reproductive intentions in mothers of young children with sickle cell disease

Schultz

Tchume‐Johnson

Jackson

et al. 2020

Pediatric Blood & Cancer

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Background Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy associated with morbidity and mortality. We sought to understand family planning intentions of parents of young children with SCD including the awareness of three reproductive options (adoption, in vitro fertilization with egg/sperm donation [IVFD], in vitro fertilization [IVF] with preimplantation genetic testing [IVF/PGT]) to decrease the risk of having a child with SCD. Procedure Qualitative, semistructured, one‐on‐one interviews with 18 female parents of young children with SCD at an urban, tertiary care pediatric hospital. Results Half of the parents knew their hemoglobinopathy status or their partner's status before pregnancy. Eight parents chose to have no further children because of fear of SCD in another child. Awareness of reproductive options prior to study enrollment was limited. After brief introduction, 7 parents would consider adoption, 2 IVFD, and 10 IVF/PGT. Desire for a biological child, fear of parental jealousy, ethical or religious considerations, and cost affected the acceptability of these options. Participants universally wanted information about reproductive options available to others prior to pregnancy. Conclusions There is limited awareness and variable acceptability of alternative reproductive options available to decrease the risk of a future child having SCD. Participants universally endorsed the need for education regarding hemoglobinopathy status, SCD, and reproductive options prior to pregnancy because for many participants having a child with SCD affected their reproductive intentions. Educational interventions to ensure informed reproductive decision making should be sensitive to desires for a biological child, and ethical and financial considerations.

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Section: Discussionmentioning

confidence: 99%

Reproductive intentions in mothers of young children with sickle cell disease

Schultz

Tchume‐Johnson

Jackson

et al. 2020

Pediatric Blood & Cancer

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“…186)." 5 This particular example is especially pertinent within the context of the current political movement focused on anti-Black racism across the US and Canada and worth highlighting even though none of our studies spoke to this directly. Similarly, we expect that this possibility for carrier screening to be experienced as discriminatory or disempowering to also be present for people living with the conditions being screened for (e.g., FXS, CF or SMA).…”

Section: Conclusion and Implications For Decision-or Policy-makingmentioning

confidence: 94%

“…185)." 5 One of the proposed solutions to the potentially stigmatizing and discriminatory effect of targeted, ethnicity-based carrier screening has been the development and implementation of expanded testing panels provided at a population-based level. 1 Expanded carrier testing is not proposed simply as an attempt to limit the stigmatizing effects of some targeted screening programs; it has also been promoted as being more cost-effective than single-disease, hereditary, or ethnicity-based testing, and more commonly as "maximizing the opportunity for couples to make autonomous reproductive decisions."…”

Section: Context and Policy Issuesmentioning

confidence: 99%

Genetic Carrier Screening for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies, and Spinal Muscular Atrophy

Herington¹,

Horton²

2021

cjht

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People generally describe wanting access to carrier screening because knowing about the risk of passing along a genetic condition is considered important and supportive of their desires to be prepared. In the context of expanded carrier screening programs, this could mean that an increased number of people would want to access these programs. Supporting people who are considering carrier screening can be challenging and is likely to be more involved than simply sharing high-level descriptive information about testing details and potential outcomes. Descriptive information is important to help people understand the screening process and the types of results that could emerge from testing; however, programs might be more supportive of informed decision-making if the providers take a proactive role and are open to facilitating speculative conversations about potential ramifications in people’s actual lives. This is challenging given the expressed desire by health care providers, clinical geneticists in particular, to provide “neutral information” that patients would not experience as prescriptive. Given the challenge of supporting people making decisions about whether or not to pursue carrier screening, and the likely increase in people who would consider carrier screening if targeted programs were expanded to population-level screening, it is important to ensure that health care providers are both aware of jurisdictional carrier screening programs and competent in what carrier screening can offer their patients in terms of clinical actionability. Although this is particularly true for general practitioners who are often the primary point of contact with the health care system for their patients, it is also important for people who work in family planning clinics and women’s health clinics. Having the option to engage with carrier screening at the preconception stage was universally preferred by participants across the included studies. Compared with prenatal carrier screening, preconception carrier screening was seen as providing prospective parents with more reproductive options. Health care providers were concerned that offering carrier screening during pregnancy might lead pregnant people and their partners to confuse it with other prenatal testing which would limit people’s ability to be truly informed before deciding whether or not to pursue screening. However, if offered as a prenatal option, most people consider it important to do so as early as possible because it could be paired with other prenatal tests. Although not referred to specifically by any of the included studies, we note that offering carrier screening prenatally rather than at preconception, could place the responsibility to make the decision on cisgender women and non-binary or transgender people with uteruses. Sequentially designed carrier screening programs were the most common across the included studies; however, people moving through programs with this design found the interim period between receiving their positive carrier results and receiving their partners’ results difficult. This was particularly true for people who were already pregnant because this interim period forced them to reimagine both their relationship with the fetus and the future they had imagined with that child. Of course, this reimagining might be necessary if both partners’ screening results came back positive for the condition in question, but to stagger the return of the results could put undue anxiety on potential parents. Carrier screening will not affect everyone in the same way, and reproductive decision-making will still be complex and difficult. As such, the opportunity to engage with genetic counsellors on reproductive options following positive carrier status result is considered valuable.

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“…The global discourse around inherited blood disorders, which often uses terms such as risk, prevention, burden, etc., covers political efforts to control the population and limit their reproductive rights [53]. This discriminatory approach to SCD can contribute to stigmatizing people and legitimate eugenic policies [49,54].…”

Section: Knowledge Production Regarding Scdmentioning

confidence: 99%

Sickle Cell Disease in Bahia, Brazil: The Social Production of Health Policies and Institutional Neglect

2022

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A disease is considered neglected when it is not given due priority in health policies despite the social relevance of that disease, either in terms of the number of individuals affected by it or its morbidity or mortality. Although the causes are structural, neglect in health does not occur in a vacuum. In this paper, we explore how sickle cell disease (SCD) is constructed and neglected in Brazil, based on insights from our long-term participatory qualitative research in the state of Bahia. We present five overarching themes relevant to the social production of SCD, and associated health policies in Brazil: (1) The achievements and setbacks to overcome neglect in SCD, (2) Continuity of comprehensive SCD care; (3) Social movements of people with SCD; (4) Biocultural citizenship; and (5) Academic advocacy. We conclude that it is insufficient to merely recognize the health inequities that differentiate white and black populations in Brazil; racism must be understood as both a producer and a reproducer of this process of neglect. We conclude with a set of recommendations for the main SCD stakeholder groups committed to improving the lives of people living with SCD.

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Resignifying the sickle cell gene: Narratives of genetic risk, impairment and repair

Cited by 10 publications

References 32 publications

Reproductive intentions in mothers of young children with sickle cell disease

Reproductive intentions in mothers of young children with sickle cell disease

Genetic Carrier Screening for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies, and Spinal Muscular Atrophy

Sickle Cell Disease in Bahia, Brazil: The Social Production of Health Policies and Institutional Neglect

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