Consensus Statement
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Open Access
Featured
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Comment |
The ethics of patenting autism genes
A recent patent granted for methods for diagnosing autism spectrum disorder (ASD) raises several ethical concerns beyond the fundamental question of whether genomic sequences are patentable, as it suggests that genetic testing can provide a diagnosis of ASD even before behavioural symptoms present.
- Kristien Hens
- , Ilse Noens
- & Jean Steyaert
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Viewpoint |
Next-generation sequencing in the clinic: are we ready?
We asked five experts their opinions on issues that arise from new clinical tests that are based on next-generation sequencing. Crucial gaps in infrastructure need to be addressed for the results of these tests to be optimally handled.
- Leslie G. Biesecker
- , Wylie Burke
- & Ron Zimmern
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Review Article |
Exome sequencing as a tool for Mendelian disease gene discovery
Exome sequencing is a powerful approach for accelerating the discovery of the genes underlying Mendelian disorders and, increasingly, of genes underlying complex traits. This Review describes the experimental and analytical options for applying exome sequencing and the key challenges in using this approach.
- Michael J. Bamshad
- , Sarah B. Ng
- & Jay Shendure
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Science and Society |
Advances in prenatal screening: the ethical dimension
Technological advances are driving rapid changes in prenatal screening: for example, the use of genome-wide molecular tests for diagnostic follow-up and the pending introduction of non-invasive testing. These advances raise difficult ethical questions about issues such as meaningful reproductive choice, equity of access and the proportionality of testing.
- Antina de Jong
- , Wybo J. Dondorp
- & Guido M. W. R. de Wert
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Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Reliable repositioning in cancer