This Task Force document discusses some relatively unexplored ethical issues involved in preimplantation genetic diagnosis (PGD). The document starts from the wide consensus that PGD is ethically acceptable if aimed at helping at-risk couples to avoid having a child with a serious disorder. However, if understood as a limit to acceptable indications for PGD, this 'medical model' may turn out too restrictive. The document discusses a range of possible requests for PGD that for different reasons fall outwith the accepted model and argues that instead of rejecting those requests out of hand, they need to be independently assessed in the light of ethical criteria. Whereas, for instance, there is no good reason for rejecting PGD in order to avoid health problems in a third generation (where the second generation would be healthy but faced with burdensome reproductive choices if wanting to have children), using PGD to make sure that one's child will have the same disorder or handicap as its parents, is ethically unacceptable.
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http://dx.doi.org/10.1093/humrep/deu132 | DOI Listing |
Acta Neuropathol
January 2025
Department of Neurology, NYU Grossman School of Medicine, New York, NY, USA.
Down syndrome (DS) is strongly associated with Alzheimer's disease (AD) due to APP overexpression, exhibiting Amyloid-β (Aβ) and Tau pathology similar to early-onset (EOAD) and late-onset AD (LOAD). We evaluated the Aβ plaque proteome of DS, EOAD, and LOAD using unbiased localized proteomics on post-mortem paraffin-embedded tissues from four cohorts (n = 20/group): DS (59.8 ± 4.
View Article and Find Full Text PDFClin Pharmacol Ther
January 2025
Data Analytics and Methods Task Force, European Medicines Agency, Amsterdam, The Netherlands.
Biomarkers play a pivotal role in the selection and enrollment of trial participants. Particularly, predictive biomarkers help tailor medical care to individual patients; however, also prognostic biomarkers require consideration at the design stage. At the time of initiating a clinical trial, there may be uncertainty about whether a biomarker is predictive or prognostic, and the trial design may need to account for this.
View Article and Find Full Text PDFBMC Res Notes
January 2025
Helen Keller International, New York, USA.
Objective: Sierra Leone, a country where onchocerciasis is endemic in 14 of the 16 districts, was the focus of our investigation. Despite 17 rounds of annual ivermectin treatment since 2005, a report circulated by a local politician indicated an increase in cases of suspected onchocerciasis-related vision impairment in two villages (Mangobo and Petifu) in Tonkolili district. In response, the National Neglected Tropical Disease Program conducted a comprehensive investigation.
View Article and Find Full Text PDFBMC Health Serv Res
January 2025
Department of Health Sciences, University of Genoa, Via A. Pastore 1, Genoa, 16132, Italy.
Background: The rising cost of healthcare is a concerning issue for healthcare systems. The Diagnosis Related Group (DRG) system lacks direct consideration for costs related to nursing care. Therefore, to date there is no clear picture of billing models that consider also nursing activity when evaluating healthcare service costs or what factors related to nursing care affect the costs of healthcare services and would therefore need to be considered in billing models.
View Article and Find Full Text PDFCNS Drugs
January 2025
Innovative Medicines and Global Clinical Development, Teva Branded Pharmaceutical Products R&D, Inc., West Chester, PA, USA.
Background: Huntington disease (HD) is a progressive neurodegenerative disease that causes psychiatric and neurological symptoms, including involuntary and irregular muscle movements (chorea). Chorea can disrupt activities of daily living, pose safety issues, and may lead to social withdrawal. The vesicular monoamine transporter 2 inhibitors tetrabenazine, deutetrabenazine, and valbenazine are approved treatments that can reduce chorea.
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