Genetic testing could save your life!

Personalized medicine, or genomic medicine, is a new discipline that uses genetic information from an individual as part of their care either in diagnostic or therapeutic decision-making. It also affects health outcomes/policy implications in using this information for clinical purposes. How is this accomplished? How did it get started?


0918 DNA Testing TNThe Human Genome Project (HGP) was a collaborative international research effort to determine the DNA sequence of the entire human genome. It was started in 1990 and completed in 2003. A genome is a complete set of DNA for any organism (all of its genes). Each genome contains all of the information needed to build and maintain that organism. For humans, a copy of the entire genome is more than 3 billion DNA base pairs. As you can imagine, the sequencing was an enormous undertaking because it involves identifying and mapping all of the genes from both a physical and functional stand point. A genome is unique to each individual. In order to get the mapping of the “human genome,” it meant sequencing a small number of individuals and putting together their information to get a complete sequence for each chromosome. So, technically, the completed “human genome” is not a representation of any particular individual but a mosaic of many individuals.

The benefit of HGP is that it helps us to better understand diseases. Genotyping is the process to determine differences in the genetic make-up (genotype) of an individual. This is done by examining the individual’s DNA sequence using biological assays and comparing it to a reference sequence. By genotyping specific viruses, doctors are able to find specific, appropriate treatment. Also, this allows mutations that are linked to different forms of cancer to be identified. It is being used to design medications in ways that we will be able to predict more accurately their effects. All of these, and more, are providing advances in healthcare treatment. The impacts in oncology, pharmacology, infectious diseases and finding rare/undiagnosed diseases are already providing significant improvements in care that is being provided. There have been 1800 different disease genes found to date.

How is this going to impact your healthcare in the future? Right now, doctors are ordering genotyping on critically ill patients that are not responding to traditional treatment methods. This is helping to more accurately identify the cause of the illnesses which helps to provide insight into what is will be the most effective treatment. Eventually, we will end up to the point that genotyping is a standard that is completed and healthcare will become individualized for everyone. By knowing exactly how your body responds to medications and what illnesses are you predisposed to having, your doctor will be able to tailor their care to meet your specific needs. Just thinking about the impact that this will have can be mind boggling and is encouraging to contemplate.

There are some concerns about the impact on privacy and patient rights. In order to do this testing, it requires an extensive look at your health and the information is currently shared (with patient consent) to aid in further research. Some people are concern about their very detailed and personal information being available to large amounts of people. As we move toward this becoming the standard of practice, the other concern is that as beneficial as genotyping is at providing insight into the best way to provide care to patients, some people don’t want to know what they are at risk for so they don’t view this becoming as a good thing. These issues will need to be addressed as we continue to move toward a more personalized healthcare system.

The advances we have made at not only understanding, but being able to treat each person as an individual is amazing. As we continue to make advancements, there will be issues that need to be resolved in order to ensure that privacy and patients ability to refuse genotyping as a method of treatment remain intact. Eventually, it won’t be called “personalized medicine,” but just “medicine.”