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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Beyond genomics.

¹GlaxoSmithKline, Harlow, UK. colin.dollery@gsk.com

Clinical Pharmacology and Therapeutics

|September 14, 2007

Summary

Human genome sequencing has advanced medicine, enabling targeted therapies for diseases like cystic fibrosis and breast cancer. However, the expected surge in new genetic treatments has been slower than anticipated.

Area of Science:

Genomics
Medical Genetics
Pharmacogenomics

Background:

Human genome sequencing has significantly impacted medicine.
Identified genetic factors in diseases like cystic fibrosis and Her2-driven breast cancer.
Led to targeted therapies such as imatinib mesylate and trastuzumab.

Purpose of the Study:

To assess the impact of human genome sequencing on medical advancements.
To evaluate the success of genetic technology in developing new therapies.
To provide an overview of current therapeutic innovations driven by genetic insights.

Main Methods:

Literature review of genetic discoveries and their clinical applications.
Analysis of therapeutic innovations linked to specific genetic targets.

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Evaluation of the pace of new treatment development post-genome sequencing.

Main Results:

Genome sequencing has enabled precise identification of disease-related genetic variations.
Successful targeted therapies exist for specific conditions (e.g., Gleevec for CML, Herceptin for Her2+ breast cancer).
The overall number of new effective treatments has been less than initially projected.

Conclusions:

Human genome sequencing is a powerful tool in precision medicine.
Genetic advancements have yielded significant, albeit specific, therapeutic successes.
Further development is needed to fully realize the potential of genomic medicine for a broader range of diseases.