The power of DNA testing in personalized medicine.


Karen Possemato, Chief of Staff at Illumina, presenting the advancements of genomic sequencing. 

Imagine your family free of the possibility of illness... finally having your health in your hands and making informed decisions to treat an illness that does not appear to have a cure.  Our guest speaker certainly provided hope in the realm of personalized medicine. Karen Possemato, Chief of Staff at iIlumina, presented concrete evidence on how DNA testing can help treat a specific disease; leaving no doubt on how the field of genomics is becoming more utilized and creating more impact in the way illness is treated today.

Changes in technology, as in pretty much everything in our lives, are only a couple of decades old; in comparison with all the technological and scientific advancements throughout our history.  To put the speed of technology and science adoption --specifically genomics-- in context, Mrs. Possemato discussed how the activation of T cells treated President Carter's melanoma.  She also discussed the potential of GMO's to fight hunger in impoverished countries.  Most importantly, how having control of your genomic information can be useful to your health.

The science and technology of genomics represent an extremely personalized future as far as business and medicine  are concerned. Imagine having your genome mapped and then having an app that can tell you how to lose weight --or which movie star best resembles you-- based on your genomic information.  Genomics is also an applied science in the field of forensics.

The possibilities of applying genomics to ANY aspect of our lives are endless.  Moreover, applications with genomics are going to become as pervasive as ever, as every living organism has a genomic code.  It's almost like the software of life. It sets the blueprint of instructions under which life develops.  This set of instructions, however, might have errors that lead to illness, such as cancer.  Understanding where the abnormality is can help identify and treat a specific illness.

According to Mrs. Possemato, there are two main trends when deciphering the genetic code: genotyping, a process looking for known changes in a specific gene, and DNA sequencing, which looks at ALL of the code and attempts to read it and capture it as data.

The potential of genome sequencing to diagnose and treat severe illness couldn't come at a better time!  As Forbes Magazine reported in 2011, Nicholas Volker had already gone through too many surgeries --including the removal of his colon-- to control a continuously, dangerously inflamed intestine.  After sequencing his DNA (something that had not been done before at the Medical College of Wisconsin), the doctors identified a gene mutation that not only led them to a course of treatment -- a bone marrow transplant -- but also explained his condition and recorded the abnormalities of it for future reference.

In 2013 the Meagu family was concerned about passing along a rare form of muscular dystrophy.  As reported by the English publication The Telegraph, embryo testing after in-vitro fertilization led to the isolation of the gene causing the illness.  Their son is now 2 years old and disease free.

The question now becomes how long before the access to this wonderful technology is available? Good news is the cost and timeframe have gone down from millions of dollars and months of work, to days and a thousand dollars.  It now becomes feasible for a patient's critical illness care.

As a matter of fact, advances in genomic sequencing are breaking borders.  The scientific community is trying to sequence DNA in thousands of people around the world to understand the differences in the human genome.  The idea is to build an international community where genomic similarities worldwide can help in the diagnosis and treatment of a specific illness.  Who knows! A patient's genomic map analysis in England might help in the treatment of a patient in the US with similar markers!

By the way, 90% of genomic sequencing takes place on illumina's platform!   On the road to personalized medicine, genomic sequencing is a must! Learn more about it www.illumina.com.

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About the Doris A. Howell Foundation for Women's Health Research

The Doris A. Howell Foundation for Women’s Health Research is committed to keeping the women we love healthy, advancing women’s health through research and educating women to be catalysts for improving family health in the community.

The organization does so by funding scholarships to scientists researching issues affecting women’s health; providing a forum for medical experts, scientists, doctors, researchers, and authors to convey the timely information on topics relevant to women’s health and the health. of their families through its Lecture and Evening Series, and by funding research initiatives that will create women’s health awareness and advocacy in the community.

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