Using genomic data to understand disease entities

Three recent studies point to the continued presence and increasing importance of genomic information to improving health care.

We have discussed the power of personalized medicine in multiple posts and highlighted the potential of genomics and though this movement is really still in its infancy it is a burgeoning component of medicine.

The first study, published in the American Journal of Gastroenterology, explores Helicobacter pylori, a common cause of gastric cancer. Researchers found that the genotypes of H. Pylori might have great effects on determining which patients are at high risk of progression. Likewise, in the second study published in Cancer, the authors investigate an independent and tissue-specific prognostic factor miR-126 in nonsmall cell lung cancer. By using tissue microarrays and evaluating tissue samples, the researchers concluded that miR-126 is in fact a strong indicator for prognosis. Finally, in the Journal of Bone and Mineral Research, researchers studied mice and bone loss. They found that a deficiency in a telomere, or a region at the end of a chromosome that protects it from deterioration, can lead to accelerated loss of bone.

All three of these studies demonstrate the relevance of genomic data to understanding various disease entities and the interplay at the microscopic level with macro events and outcomes. While cancer is in many ways the front-runner in this area of exploration and application, findings are applicable to many other specialties and expanding on a daily basis. With these findings come a host of other questions pertaining to the connection of genomics and health. For instance, in Public Health Genomics, a journal dedicated to exploring the discussions surrounding genome-based knowledge and technology into public policy, authors recently wrote on topics such as the privacy risks associated with genomic information, the interface of public health genomics and intelligence, and the role of technology in translating genomic findings to public health assessment. An article in a recent New England Journal of Medicine provides a comprehensive review of how genomics is altering the classification of cancers in both prognosis and therapeutics, but also delves into clinical trials and monitoring of disease burden and susceptibility.

The breadth of genomics and the implications to society and health are already staggering and expanding rapidly. There are multiple players involved in this movement as well. Illumina is a leader in making the machinery behind much of the sequencing technology making this shift possible. Back in August 2010, the company was just over $45; it now stands at almost $74 and is climbing quickly as its technology is becoming more refined and dispersed to multiple parties. There are a number of companies out there that could lead to impressive financial gains for those of you interested in that aspect of this discussion. There are a myriad of other companies invested in personalized genomics and the interconnection between genetics and health management. It will be interesting to watch as this movement unfolds both on the disease-specific level as well as in the personalized health sphere.

Douglas Elwood is Chief Strategy Officer, Zibbel, Inc., and blogs at Mobile Health 360.

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