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The advent of personal genome sequencing
1Complete Genomics, Inc, Mountain View, California 94043, USA. rdrmanac@completegenomics.com
Summary
Personal genome sequencing is becoming affordable, promising improved health and lower costs. Education on its benefits and risks is crucial for widespread acceptance and preventing misuse of genetic information.
Area of Science:
- Genomics
- Bioinformatics
- Medical Genetics
Background:
- Decreasing DNA sequencing costs enable large-scale human genome sequencing.
- Personal genome sequencing is projected to become widely accessible with costs nearing $1000 per genome.
- Current disease studies involve sequencing hundreds of patient genomes.
Purpose of the Study:
- To explore the implications of widespread personal genome sequencing.
- To advocate for government and insurance support for personal genome sequencing.
- To highlight the necessity of public and physician education regarding genomic data.
Main Methods:
- The study is a conceptual analysis based on current technological trends and projected cost reductions in DNA sequencing.
- It synthesizes information on the potential impact of genomics and systems biology on interpreting sequence variants.
- It considers the risks associated with the misuse of personal genomic information.
Main Results:
- Widespread personal genome sequencing is anticipated due to falling costs.
- Significant improvements in human health and healthcare cost reduction are expected.
- Medical genomics and systems biology are key to interpreting genomic data.
Conclusions:
- Governments and insurance companies should support or mandate personal genome sequencing due to its benefits.
- Managing health and discrimination risks is feasible.
- Educating physicians and the public is essential to prevent overinterpretation and misuse of personal genome sequencing data.
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