A brave new world
Monday, February 18, 2013 9:00 PM
It sounds way cool - send a sample of your saliva to a lab and receive a DNA report that tells you your risk for various diseases, whether you're a carrier for certain diseases or if you may be sensitive to certain drugs. These are the "services" being offered by some genetics labs. One even tried to partner with Walgreens a couple of years ago to provide the test kits in their stores. Is the public ready to digest this information?
The decoding of the DNA sequence of the human genome will most certainly turn out to be one of the greatest scientific achievements of mankind. It has the potential to revolutionize our understanding of human biology. Unfortunately, it also presents numerous problems that the general public may not yet be prepared to handle.
The FDA has concerns about the type of testing that genomics labs are trying to sell directly to the public. The question at hand is whether the testing is for informational purposes only or whether it is diagnostic.
These kits may have the potential to influence the choice of what drug a person takes or provide information to be used in pre-pregnancy planning or pregnancy termination. If so, the FDA would then have regulatory authority over the testing. These labs often use language that appears to state the testing is purely for informational purposes: [their services] "...do not provide medical advice or diagnosis or treatment recommendations for diseases or other health conditions."
The problem with direct-to-consumer (DTC) sale of genetic testing is that it puts the cart WAY out in front of the horse. Scientists have discovered many genes that can be associated with diseases and responses to medications. They have also developed rapid DNA sequencing to find those genes in a sample of a person's DNA. Rapid testing is becoming available in some clinical settings that can give answers to some genetic questions in less than an hour!
The conundrum physicians face is what to do with the information that is revealed by genetic testing. The two biggest ethical pitfalls in genetic testing are misinterpretation of the information by medical professionals and patient misunderstanding of what the results mean.
Medical genetics is a very specialized field of medicine. The expression of a person's genes and how they interact with environmental and lifestyle choices is a very complex business - and far from being completely understood. Medical geneticists and counselors spend years in training to determine who should even consider testing based on a patient's family and personal history as well as how to interpret the test results.
Companies that offer genetic screening tests can tell you if you have certain DNA sequences, but then what? They typically dump the responsibility of interpretation and explanation on others. Language on their websites typically reads, "You should consult with a physician or other appropriate health care professional regarding the diagnosis, treatment and prevention of any disease or health condition."
I guarantee that doctors who are not trained medical geneticists can't even begin to evaluate and explain genetic testing in a thoughtful and meaningful way. The science is advancing too rapidly for most doctors to be trained adequately to recommend testing, interpret it, and then counsel patients.
People who are interested in having this type of testing should thoroughly research the ramifications of their decision. Is there a need to know? Will it change your medical treatment? Would it alter your decision to have children or terminate a pregnancy? Do you want the results of your genetic testing on a computer somewhere that may not be secure? Do you want your employer or insurance company to gain access to your information?
I encourage anyone who is considering having testing done to thoroughly read the company's disclaimers, privacy policies and descriptions regarding the testing. Be sure you fully understand the consequences of testing. Ensure any lab you use is certified. Be aware that genetic testing is not foolproof - labs make mistakes. Seriously consider consulting a genetics counselor before embarking on this latest craze in medical testing.
For more information on this topic see: http://tinyurl.com/2ah26te and http://tinyurl.com/5g26bb
Dr. John Roberts is a family physician. He is also one of the owners of The Paper of Montgomery County. Send him your question today by e-mail at firstname.lastname@example.org.