The ethics of prenatal diagnosis

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A recent article published in “Maternal Health, Neonatology, and Perinatology” describes various ethical issues associated with prenatal diagnosis. “Prenatal diagnosis” is an umbrella term encompassing a range of genetic tests which are conducted prior to birth.

These procedures vary in risk level and invasiveness, but all aim to detect any genetic disorders present in the foetus. They can be divided into two categories: preimplantation genetic testing, and prenatal diagnostic procedures during pregnancy.

These procedures generate a large amount of data which may not be well-communicated to couples. Prenatal diagnostic procedures findings can be difficult for parents to interpret and their decisions may therefore be made on the basis of misconceptions about the likelihood or potential severity of a condition.

Moreover, many of the applications of prenatal diagnosis are themselves ethically controversial, and are the subject of significant debate. Overall, there is a need for clear guidelines on the use of prenatal testing.

(orphanews 2023.02.28)

Monthly newspaper « Le Trombinoscope » – dossier on Rare Disease Day « patients face taxing times and their organisations too ! »

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read this article (in French)

Teachers’ role in the inclusion of students with rare diseases

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A new study published in “Frontiers in Psychology” investigated the different teaching variables which affect the inclusion of students with rare diseases. In education, as in other fields, those students have specific needs. These needs are often unmet, due to a general lack of education of teachers and the wide variety of rare diseases. Data collected from the questionnaire filled in by teachers in La Mancha (Castille-Spain), shows that while they were in favor of including students with rare diseases, as a whole, they lacked the requisite knowledge about their specific needs. These results indicate that specific training and resources to offer bespoke educational responses to students with rare diseases are needed. If teachers are more aware of the specific challenges facing these students, their needs will be better addressed and their wellbeing will be improved. (orphanews 2023.01.31)

ERN-Skin ANNUAL BOARD MEETING

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13th January 2023 :

ERN-Skin Board Meeting.

2023 is a transitional year for all ERNs.

The first 5-year period ended in 2022. 2023 will therefore be a transition and evaluation year before a new validation by the EU for a new 5-year period to 2028.

 

The meeting was an opportunity to take stock of what was done and present future projects.