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Genomic sequencing of an individual has become clinically appropriate for the diagnosis of suspected genetic disorders due to the rapid advances in molecular technology and informatics. This large-scale approach offers benefits in terms of increased accessibility as well as reduced time and costs in comparison to the targeted screening approaches available only a few years ago. Whole genome/exome sequencing (WGES) involves generating, storing, sharing, and analyzing large amounts of data and requires collaboration between clinicians, geneticists, research scientists, and bioinformaticians.

Ethical principles that are helpful when considering the ethical issues surrounding WGES include those set forth in the Declaration of Helsinki, a guide to promote and safeguard the health, well-being, and rights of patients, including those who are involved in medical research. These include (1) respect ...

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