In the past 20 years, we have seen genetic testing go from a million dollar per person investment to a $99 direct-to-consumer kit. The relative accessibility of genetic testing comes with a price, and it is not the price we see at the time of check-out.
As with any medical testing, researchers and scientists in these industries are keen to utilize patient data for population analysis. Much of this work is for the betterment of society and to promote research and development efforts for drug-related clinical trials.
In a recent New York Times editorial, "Why You Should Be Careful About 23andMe's Health Test," the writer(s) make a clear point that disease risk analysis isn't dichotomous. The well-known genetic testing company has met "FDA approval" to roll-out their newest kit for gene-based health risks for diseases such as Alzheimer's, Parkinson's, breast cancer, and several other medical conditions, however, this does not necessarily indicate "clinical utility." Insofar as the physician ordered diagnostic testing, it's actually more robust.
So what good is genetic testing, if there are significant issues, which may allude or delude a person into thinking that they have an increased or decreased risk for a disease which they have no control over, such as degenerative neurological conditions?
Consider also, there are frequent "reclassification" of genetic mutations, as scientific research constantly evolves to understand the vast landscape of the human genome. The implications of "reclassifying" genetic mutations translate to clinical misinformation, and overall inconsistencies between the creators of the kits to the patients, and the physician's, if they are involved in the equation. As it would seem, the results of a genetic test are understood to be the "truth," however, this is a common misunderstanding, which can cause grave medical implications downstream for patients.
Scary to think that a mutation considered to be benign may be considered malignant tomorrow.
How should this shape your view on genetic testing? Whether you have a known family history of a genetic condition or have an unknown carrier status, you should consider speaking to your primary care doctor to discuss the implications of physician-ordered testing kits and or direct-to-consumer kits. Moreover, there are less complicated diseases known as Mendelian conditions which are typically better known and understood, as they are controlled by a single locus in an inheritance pattern.
Additionally, there are board-certified genetic counselors who work alongside physicians, industry labs, and so forth who are trained to educate, inform, and empower patients in terms of their genetic predisposition. Their role in genetic testing is crucial, but as the typical doctor's visit is less than 10 minutes, this does not allow for comprehensive genetic counseling inclusive of all other necessary measures.
