Commentary
JAMA. 2011;306(21):2376-2377. doi: 10.1001/jama.2011.1788
Next-Generation DNA Sequencing, Regulation, and the Limits of Paternalism
The Next Challenge
- James P. Evans, MD, PhD;
- Jonathan S. Berg, MD, PhD
[+] Author Affiliations
Since this article does not have an abstract, we have provided the first 150 words of the full text.
- KEYWORDS:
- CONSUMER HEALTH INFORMATION,
- GENETIC SCREENING,
- GENOME, HUMAN,
- GOVERNMENT REGULATION,
- MOLECULAR SEQUENCE DATA,
- MUTATION,
- PUBLIC HEALTH,
- SEQUENCE ANALYSIS, DNA.
With the advent of next-generation sequencing technologies, the ability to quickly and relatively inexpensively learn the sequence of an individual's entire genome will soon be available to medical practitioners, patients, and consumers. Whole-genome and whole-exome sequencing will routinely uncover both trivial and important medical results, both welcome and unwelcome. This upheaval in sequencing technology presents new challenges to implementation and regulation, forcing physicians to consider what genomics has to offer patients, clinicians, and consumers, ultimately prompting a consideration of the role of paternalism in medicine.
Next-generation sequencing has already shown promise as a diagnostic tool for patients with enigmatic disorders and features that suggest a primary genetic etiology, such as a strong family history, developmental anomalies, or unusual presentations of common diseases (eg, cancer at a young age).1 Moreover, when evaluating disorders that can result from mutations in many different genes, next-generation sequencing allows simultaneous assessment of multiple genes. …
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