Testing your own personal genome - opening a Pandora's Box?

2013-02-21 21:32:49

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( - With the advent of the internet, individuals have instant access to a vast array of information.. With a few strokes on a key board, one can find a recipe for tiramisu, the weather forecast in Nashville, or be able to self diagnose yourself using an extensive symptoms tracker. Given the breadth of detailed medical knowledge available to the everyday population, individuals are becoming more active in managing their own health and healthcare. When placed in the context of educated and trained medical professionals or non-critical health areas, this interest can be very beneficial, however if taken in isolation, this involvement can be extremely hazardous.

The study of “Genomics” is an emerging field, and the fact that to date some individuals even struggle to pronounce the name correctly, is indicative of how little knowledge is known about the subject in the general public. Currently, the genomic field is at too early of a stage for individuals to engage in personal genome testing, for even when used for educational, entertainment and illustrative purposes, it is very irresponsible, creates more harm than good and would open Pandora’s Box.

One concern plaguing the medical community is with the insurmountable quantity of data available online, the ability to interpret and verify this information is not present. How much of the information posted is credible? How do individuals verify their findings?

Simple health issues, for example, the correlation between target cholesterol levels and adverse cardiac events, though well researched and supported by long ranging public health initiatives, are still subject to heavy debate by the clinical community. With seemingly basic issues plaguing medical minds for years how are individuals not involved in the health industry expected to make sense of the more complex findings of genomic testing? The simple answer is that they should not be expected!

It is critical that prior to individuals obtaining access to their personal genome, an authority must be created to regulate the entire industry. Currently, the industry is generally characterized by a variety of small firms which use numerous and diverse technologies to obtain a wide range of genomic findings for individuals. Test panels offered cover everything from ideal vitamins an individual should take, probability of contracting a chronic disease to how one would respond to a drug to familial heritage. There currently are minimal guidelines in place that define testing rigor, assay validation requirements, support for marketing claims or clinical utility of test panels. The genomic field is so new that even many clinicians do not know the ramifications of many tests or how to apply them in a patient setting for disease diagnosis and management. For those of us who haven’t attended medical school, being presented daily with a barrage of medical warnings can be alarming and may create unfounded health concerns. Add to this, personal genomes with a new lexicon of terms, developing technologies and unfounded medical conclusions and it is a recipe for disaster.

There can be obvious benefits of participating in genomic testing. For instance, individuals with a family history of cystic fibrosis can discover the likelihood of having an offspring that would suffer from this terrible disease and appropriately make family planning decisions. However, the implications of genomic testing can be profound and because the correlations to clinical significance are not always known, these results can lead to erratic behaviors--ranging from benign to detrimental. An example of one extreme response to genomic testing can be found in the following case. Patient A is a 16 year old healthy female. She doesn’t smoke or drink, and follows a well balanced diet. She has no known health conditions, and maintains an athletic and active lifestyle. However, Patient A comes from a family with a long history of breast cancer. Her maternal grandmother and her aunt have both passed away from this cancer. Currently, she shows no indications of being affected by the disease; however, not wanting to take risks with her health, she has opted to get her personal genome tested. The results indicate that she has a 2% higher than normal chance of being diagnosed with metastatic breast cancer than the average person. After undergoing routine mammogram screening tests, she receives a clean bill of health from her radiologist. Nevertheless after becoming aware of this “blip” on her genome and knowing the possible outcome, Patient A elects to take preventive measures by undergoing a full mastectomy at the age of 16. Clearly, this is a major medical decision; one that should not be substantiated by 1 test alone and should be followed with a lengthy discussion with a trained genetic counselor.

It is widely known in the medical community that there are some diseases with pure genetic linkages, but many diseases are complex and caused by a combination of lifestyle choices, behaviors, environment, and of course genomics. Genomics can and will eventually will be a very powerful tool in the medical tool box. It will lead to earlier detection, better personal health management and targeted disease treatments to name just a few of its inherent advantages. However, as an infant field, genomics is neither ready for mainstream adoption nor routine use. Personal genome testing is not ready to be implemented and should only be done so with robust and thorough informed patient consent, in depth genetic counseling and left to the privacy of the individual.