Challenges Ahead But Sequencing Is  A Driver

We first reported on Personalized Medicine in 2010 with an article on the importance of  Biomarkers for exploiting breakthroughs in the molecular basis of disease. The BIO 2014 Personalized Medicine and Diagnostics Forum provided full day coverage offering insights as to how the science driving personalized medicine is reshaping healthcare to benefit the patient and health system.The Personalized Medicine Coalition (PMC) released the 4th Edition of their report which details the impact with drugs, treatments and diagnostics especially now that the technology of low cost sequencing is available. The report offers details on how personalized medicine has made breakthroughs in cancer care because many tumors are driven by certain genetic mutations that can be targeted by specific drugs, treatments and diagnostics of which 133 are now available. 137 pharmacogenomic biomarkers are included on the FDA-approved label. In summary the PMC report outlines the opportunity of new scientific, business and medical models which will benefit patients by:

  • Shifting emphasis in medicine from reaction to prevention
  • Direct selection of optimal therapy and reduce trial- and -error prescribing
  • Help avoid adverse drug reactions.
  • Increase patient adherence to treatment
  • Improve quality of life
  • Reveal additional or alternative uses for medicines and drug candidates
  • Help control the overall cost of healthcare

23 and Me

In order to appreciate the commercial, social and medical impact of personalized medicine you need to understand the 23 and Me business model which provides analysis to explore your personal genetic information. In a one hour 15 minute session the CEO Anne Wojcicki provided her vision and a roadmap of how consumers can learn more about their personal genetics to achieve some of the benefits listed above. From your DNA analysis you can learn information on medication response, disease risks, inherited characteristics, interesting traits and ancestry.

Although the FDA sent a Warning Letter to the Company in November 2013 to stop marketing its personal genome service they recently agreed to review the Company’s submission for a health report focused on Bloom Syndrome. Development and marketing of orphan drugs is becoming a large market and genetic tests will be needed to target patients.

To access your personal genetic information you send in a cotton swab of saliva DNA, pay $99 and receive an analysis of ancestry-related  information and uninterpreted raw genetic data. The 23 and Me website is dynamic and interactive utilizing big data from over 700 thousand genotyped members that can ultimately improve personal health and scientific discoveries.(Read the Company’s privacy and security policies.) Examples include relating the BRCA1 and BRCA2 breast cancer gene to ethnic heritage and associating genes and symptoms of allergies to asthma.Another good example is the cohort of ApoE4 genes that can be studied for risk associated with brain amyloid pathology and Alzheimer Disease.

Ultimately the Company wants to sell health information services and mine its genomic database for disease association. Although there will be bumps along the road regarding regulatory issues, accuracy of data and privacy concerns, the trend toward consumers understanding and utilizing their genetic information will move forward. And of course many will opt out of knowing their long term health risks from their genes.


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