Parents' experiences of universal screening for haemoglobin disorders: implications for practice in a new genetics era

Locock, Louise; Kai, Joe

doi:10.3399/bjgp08x277276

Cited by 56 publications

(61 citation statements)

References 27 publications

(31 reference statements)

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“…The low number of Australian obstetricians reporting offering ␤-thalassaemia screening to all patients, when in practice the majority of pregnant women have a FBE performed, most likely reflects the indirect nature of ␤-thalassaemia screening, with FBE testing not being perceived by obstetricians as a screening test for ␤-thalassaemia. This finding is consistent with patients found to be carriers for ␤-thalassaemia typically reporting that they were unaware that screening had taken place (Locock & Kai, 2008).…”

Section: Figuresupporting

confidence: 87%

Current Practice and Attitudes of Australian Obstetricians Toward Population-Based Carrier Screening for Inherited Conditions

et al. 2013

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An anonymous survey of Australian Fellows of the Royal Australian and New Zealand College of Obstetricians and Gynaecologists was conducted with the aim of understanding current practice and attitudes toward population-based carrier screening for inherited conditions in the setting of routine pregnancy care. Of 1,121 Fellows invited to complete the online questionnaire by e-mail, 237 (21%) responded, and of these 156 were practicing obstetricians and completed the whole survey. Of the respondents, 83% expressed support for population-based carrier screening for at least some conditions, with 97% supporting carrier screening for ␤-thalassaemia, and 83% supporting carrier screening for cystic fibrosis (CF). A small proportion of obstetricians reported offering carrier screening as part of routine pregnancy care (20% for ␤-thalassaemia, 8% for CF, 5% for fragile X syndrome, and 2% for spinal muscular atrophy). The main practical barriers identified for screening were cost, time constraints, and availability of supporting services. Addressing these issues is crucial for the successful implementation of population-based carrier screening programs in Australia and internationally.

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Section: Figuresupporting

confidence: 87%

Current Practice and Attitudes of Australian Obstetricians Toward Population-Based Carrier Screening for Inherited Conditions

et al. 2013

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“…It is also concerning that as a result of misunderstanding, many women from the current study believed they had been diagnosed with a medical condition, misattributed symptoms to this, and that some continued to worry about both their and their children's future health as a carrier. Similar misunderstanding was apparent amongst carriers detected in the antenatal screening program in England due to the terminology used (Locock and Kai 2008) and, in a study by Wong and colleagues, people in Malaysia described symptoms they associated with 'thalassaemia minor', such as pale skin and tiredness (Wong et al 2011). This suggests that the issue is not confined to the communication styles of Victorian healthcare practitioners, but reflects widespread practices in the education and care of those found to be carriers.…”

Section: Discussionmentioning

confidence: 88%

“He didn’t say that thalassaemia might come up” — β-thalassaemia carriers’ experiences and attitudes

et al. 2013

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Tests for haemoglobinopathy carrier status are the commonest genetic screening tests undertaken internationally. Carrier screening for β-thalassaemia is not coordinated in Victoria, Australia, and is instead incorporated into routine practice where most women are screened antenatally, through a full blood examination (FBE). Little is known about how women are screened for β-thalassaemia in Australia as well as their attitudes towards the screening process. This study was conducted to explore carriers' and carrier couples' experiences of and attitudes towards β-thalassaemia screening in Australia. Semi-structured interviews with 26 recently pregnant female carriers and ten carrier couples of β-thalassaemia were carried out. Interviews were analysed using inductive content analysis. Unexpectedly, more than half of the women had been made aware of their carrier status prior to pregnancy, with FBEs carried out for numerous reasons other than thalassaemia screening. Most women did not recall being told about thalassaemia before notification of their carrier status and therefore did not make a decision about being screened. They were generally accepting for doctors to decide about testing; however, would have preferred to have been made aware of the screening test. Women also reported receiving insufficient information after being notified of their carrier status, leading to misconceptions and confusion. This genetic screening process, incorporated into routine care whereby informed decisions were not being made by patients, was apparently acceptable overall. Based on the results of this study, we make the following recommendations: (1) individuals should be made aware that they are being tested for thalassaemia at least before a specific thalassaemia diagnostic test is performed; (2) current understanding by known carriers of thalassaemia should be assessed and any misconceptions corrected; (3) written information should be provided to carriers; (4) referral of carrier couples to specialists in thalassaemia and genetics is strongly recommended; (5) the term 'carrier of β-thalassaemia' should be used rather than 'thalassaemia minor'.

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Section: Carrier Screening For Haemoglobinopathiesmentioning

confidence: 99%

“…Some issues have been raised around the apparent 'voluntary' nature of the program, with some carriers surprised and shocked to learn their results (Locock and Kai 2008). These authors have also reported that many would prefer to be tested for haemoglobinopathy carrier status before conception (Locock and Kai 2008). In the USA (Ormond et al 2007) and Australia (Cousens et al 2010), prenatal carrier screening for haemoglobinopathies occurs ad hoc, yet there are similar findings regarding the lack of awareness of screening.…”

Section: Carrier Screening For Haemoglobinopathiesmentioning

confidence: 99%

“…In practice, screening of the population for haemoglobinopathy carrier status may occur incidentally in primary care as a result of blood being taken for other reasons. In such cases, some women believe they would have preferred to have been told that the blood results may reveal a carrier status, even if they did not necessarily feel they needed to consent to the test (Locock and Kai 2008;Ahmed et al 2005). In the absence of community education programs that raise the public's awareness, taking the opportunity to discuss the possibility of haemoglobinopathy screening in primary care seems to have merit.…”

Section: Carrier Screening For Haemoglobinopathiesmentioning

confidence: 99%

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Carrier screening in preconception consultation in primary care

Metcalfe

2011

J Community Genet

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Discussing carrier screening during preconception consultation in primary care has a number of advantages in terms of promoting autonomy and enabling the greatest range of reproductive choices. For those with a family history of an inherited condition, this ought to be a routine discussion; however, this can be expanded to include the wider population, especially for those conditions for which carrier frequencies are considered relatively common. There is published literature from around the world regarding experiences with carrier screening in primary care for cystic fibrosis, haemoglobinopathies, fragile X syndrome, Tay-Sachs disease and spinal muscular atrophy, although many of these have tended to focus on consultations during rather than before pregnancy. Overall, these studies reveal that population carrier screening is well received by the participants with apparent minimal psychosocial harms; however, challenges exist in terms of approaches to ensure couples receive adequate information to make personally relevant decisions and for ongoing health professional engagement.

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Parents' experiences of universal screening for haemoglobin disorders: implications for practice in a new genetics era

Cited by 56 publications

References 27 publications

Current Practice and Attitudes of Australian Obstetricians Toward Population-Based Carrier Screening for Inherited Conditions

Current Practice and Attitudes of Australian Obstetricians Toward Population-Based Carrier Screening for Inherited Conditions

“He didn’t say that thalassaemia might come up” — β-thalassaemia carriers’ experiences and attitudes

Carrier screening in preconception consultation in primary care

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