Revisting wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years

Andermann, Anne; Blancquaert, Ingeborg; Beauchamp, Sylvie; Déry, Véronique

doi:10.2471/blt.07.050112

Cited by 748 publications

(584 citation statements)

References 27 publications

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“…Many women were comfortable, indeed some preferred, that their doctors make the decision about the tests conducted, trusting their doctors to 'know best'. Thus, these women's attitudes towards informed consent are similar to those found in two English studies (Ahmed et al 2005;Tsianakas et al 2012) but contrast with 'standard' genetic screening processes in which informed consent is considered essential (Andermann et al 2008). The attitudes observed in our study could be a consequence of the women's lack of knowledge about the different tests recommended during pregnancy (Ahmed et al 2005), and/or the over-riding desire for reassurance that their baby will be healthy (Atkin and Ahmad 1998), hence their reliance on healthcare professionals' expertise and decision-making.…”

Section: Discussionsupporting

confidence: 57%

“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: Discussionsupporting

confidence: 57%

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

et al. 2013

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“…36 Insisting that researchers have a duty to report such results implies that they must disregard the principles and guidelines that apply to screening in healthcare, and that have been established to protect both individuals and the public good. 37 …”

Section: Revisiting the Arguments In Favor Of Returning Resultsmentioning

confidence: 99%

Changing perspectives in biobank research: from individual rights to concerns about public health regarding the return of results

2009

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During the past decade, various guidelines that imply a duty for researchers to disclose information obtained through research to participants have emerged. The character and extent of this obligation have been debated extensively, with much attention devoted to the decisiveness of the validity and utility of the results in question. The aim of this paper is to argue that individual results from research on materials stored in large-scale biobanks, consisting of samples taken within the healthcare system or of altruistically donated materials, should not be returned. We will defend the thesis that medical research on these biobanks should be viewed as a collective project to improve public health, and that available resources should be utilized to pursue this goal. We argue that there is a need for a change of perspectives. Medical research should not primarily be viewed as a danger that individuals must be protected from, but rather be recognized as constituting a necessary defense against current and future diseases. Research that bears the prospect of advancing medicine and that can be carried out at no risk to individuals should be endorsed and facilitated. This calls for a shift of focus from autonomy and individual rights toward collective responsibility and solidarity.

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“…Andermann et al 14 proposed revisiting the Wilson-Jungner criteria. In this publication, the authors referenced an earlier work by Pollitt 15 that stated "The lack of even broad concordance at the level of national policy is extremely disturbing.…”

Section: Methodsmentioning

confidence: 99%

Revisiting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening?

Petros

2012

Genetics in Medicine

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Revisting wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years

Abstract: Public health classics Screening criteria over the past 40 years Anne Andermann et al.

Cited by 748 publications

References 27 publications

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

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

Changing perspectives in biobank research: from individual rights to concerns about public health regarding the return of results

Revisiting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening?

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