Wednesday, November 25, 2015         


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Personal genomics gives rise to predictive medicine

By Ira Zunin


During a recent trip to New Zealand, I had the opportunity to interact with the indigenous Maori culture. The people call their country Aotearoa. For the Maori, tribal structure and lands are still determined today by which ancestors were aboard each canoe when Aotearoa was first settled by Polynesians more than a thousand years ago. According to one Maori friend, "Even after 28 generations it defines who I am."

Until relatively recently, to learn about our ancestors we were dependent on an unbroken oral tradition or, when available, written records. For more remote history, we would have to rely on archaeology.

Genetic anthropology adds a powerful new tool set to learning about our ancestors. Family Tree DNA is one of many resources that can track a person's genetic roots. For a few hundred dollars the lab will mail a packet with a cotton swab and instructions on how to swab the inside of your cheek and return a few cells by mail for analysis. Within a couple of weeks, customers receive a printout that describes their genetic lineage.

Automated sequencing has increased the speed and lowered the cost of personal DNA testing. The latest advances enable customers to learn about increased risks of encountering specific illnesses during their lifetime. The field of personal genomics has given momentum to another new field in health care called predictive medicine, which aims to analyze and help customers decide what their results actually mean and what they might do to manage existing risks.

For $1,100, provides risk estimates for 47 diseases. It will add ancestry analyses for an additional fee. For $300, Existence Genetics provides testing for more than 1,200 illnesses, including heart disease, cancer and obesity. Reports also comment on inborn athletic talent.

During their basic training, medical practitioners are taught to know what they will do with a result before they order a test. Personal genomics opens a Pandora's box. If the test identifies an enhanced risk for a list of illnesses, what preventive actions can be taken? If there are certain conditions for which there is no viable prevention, has the test simply created fearful waiting? If prevention is possible, what does it cost, how much is it likely to help and will insurance pay for it?

With the parade of advances in medical technology comes the potential to add to the cost of health care, but which diagnostics and which interventions are worthwhile, for whom and when? Personal genomics and predictive medicine are ones to watch.

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