Part I of the series discusses the challenges of the limited access to Next Generation Sequencing.
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Part III of the series details some of the other challenges in the rare disease space: continued confusion and not knowing even after diagnosis, scattered rare disease communities, and getting the attention of governments to intervene.
It’s been 16 years since the first human genome was sequenced. That undertaking took almost 15 years, cost billions of dollars, and revolutionized genetic research. Since then, new sequencing technologies have led to lower sequencing costs and quicker turnaround times. Sequencing a genome today takes weeks rather than years and costs thousands, not billions.
Part IV of the series discusses the shortage of genetics specialists, limited medical knowledge, dealing with established standards of clinical practice and the challenge of integrating extensive information.
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