Anneke Lucassen

Aug 29, 2024 | nature.com | Anneke Lucassen |Rachel Horton

Newborn screening programmes aim to identify those babies who will go on to develop a condition, so that they can be offered early treatment or intervention to change the course of the disease. Many countries globally have national screening programmes, and although the number and type of conditions included in these programmes varies considerably, most babies will test negative as the conditions screened for are rare.

Mar 13, 2024 | nature.com | Anneke Lucassen |Morris A. Swertz

AbstractWith the introduction of Next Generation Sequencing (NGS) techniques increasing numbers of disease-associated variants are being identified. This ongoing progress might lead to diagnoses in formerly undiagnosed patients and novel insights in already solved cases. Therefore, many studies suggest introducing systematic reanalysis of NGS data in routine diagnostics.

Jun 21, 2023 | nature.com | Lisa Marie Ballard |Anneke Lucassen

AbstractWhilst the finding of heritable susceptibility to disease was once relatively rare, mainstreaming of genetic testing has resulted in a steady increase. Patients are often encouraged to share their genetic test results with relevant relatives, but relatives may not receive this information, leaving them without knowledge of their own risk. Therefore, strategies to help communicate such information are important.

Jun 1, 2023 | jme.bmj.com | Bobbie Farsides |Anneke Lucassen

Ethical preparedness and the economic and political landscapeOur view is that being able to understand the nature and impact of organisational and societal landscapes within which key stakeholders are operating is key to developing ethical preparedness. In relation to genomics, it is important to understand the various ways in which our current landscape is infused with genomic activity, and the political and economic motivations behind this.