Due level of confidence and lucidity required

Due to concerns about the validity and utility of direct-to-consumer genetic testing, the complexity of genetic test results, lack of instructive direction from healthcare providers, and the pivotal importance of such results, I believe that medical professionals should be required for all genetic testing. I do not believe that DTC test information has attained a level of confidence and lucidity required to be used as a basis for potentially critical life-altering decisions. There are many reasons why direct-to-consumer tests should not be used, and for why medical professionals should be required for all genetic testing. The first of which simply being that DTC test results may be misleading or perhaps even inaccurate. Positive test results do not necessarily establish a true risk for the development of a disorder. In certain cases test results can turn out positive due to harmless natural variances in DNA that do not actually affect the health of an individual. In addition the majority of the diseases tested for are multifaceted and do not take into account additional individual elements unique to the patient such as family history and environmental exposures when determining their specific risks1. A negative test result may also be misleading. A negative test result means that the laboratory did not find a variance in the gene, chromosome or protein in question1. This can mean one of two things, a person may not be at risk of developing a certain disease, or the test was unsuccessful in identifying the genetic changes that may have the potential to produce a particular disorder. The complexity of test results and doubts on the legitimacy and applicability of direct-to-consumer test results are quite high. In fact, it’s great enough that our physicians have been advised not to provide counsel on the basis of DTC test information2. My second point lies within the inherent importance of the result of such tests. We must consider the very real possibility of a person making life altering decisions on the basis of genetic test results. This cannot be taken lightly. For instance there was the case of a 55 year old female patient who was diagnosed as a carrier of autosomal dominant polycystic kidney disease, a genetic disorder. She had 4 sons who were then screened and also labeled carriers of the disorder. The oldest son, a father of a six year old, committed suicide. The second, who was 30 years old at the time, divorced his wife and sold their home in order to keep himself from becoming a burden and to avoid planning a family. He did not have any problems until the age of 54, almost 25 years after being screened. The third son broke off his engagement at the age of 25 for the same reason as well. He never developed any symptoms of ADPKD. The fourth and youngest son, quit school at the age of 21 took a paying job and never married. At the time of my sources publication4 he was 42 years old and had never suffered any symptoms. This case study  by Kielstein and Jans-Martin demonstrates just how prominently a family’s life may be affected by the results of a genetics test. Many supporters believe that direct-to-consumer genetic testing will allow them more privacy and protection from genetic discrimination without the involvement of a physician. However the Genetic Information Nondiscrimination Act of 2008 prevents the use of genetic information for employment and health insurance coverage decisions. In addition to this, the privacy policies of the companies which provide DTC testing vary widely thereby dispelling this belief. While I do agree that able adults have the right to purchase genetic information about themselves, this information is of very high importance as it related to an individual’s health and welfare. Therefore we have a duty to assure that the gathered data is precise and additionally that the individual is properly acquainted with the implications of the information and the advantages and dangers that go hand in hand with receiving it.If genetic testing can have grave implications to this level, it should be required that medical professionals be present for all types of genetic testing. The required presence of medical professionals would give people the added benefit of being able to have someone clarify the results of a genetic test, and provide guidance on possible avenues of action. We cannot allow individuals to make potentially life-changing or even worse life-threatening decisions based on erroneous, insufficient,  or misconstrued information regarding their genetic condition from direct-to-consumer genetic testing without medical professionals.

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