FG_AUTHORS: MedPage Today
Some MedPage Today readers said they believe more harm than good will come from letting the genomic genie out of the laboratory bottle, but others are ready to have their three wishes granted.
MedPage Today readers sent a clear signal when 80% voted "yes" last week in the survey, which asked if genetic linkage studies are worth the cost. Out of 1,572 votes as of Friday, more than 1,200 believe research into the human genome is worthwhile.
Of course, there are legitimate concerns related to genetic research, three of which were expressed by those who voted "no."
- Will genetic information be used by employers or others to discriminate against someone? To that question, a reader pointed to the Genetic Information Nondiscrimination Act (GINA), passed by Congress in 2008. GINA prohibits health insurers from denying coverage to a "healthy person" based on knowledge of a genetic predisposition for a particular disease. Employers also are addressed in GINA, being barred from using genetic information when hiring, firing, promoting, or demoting.
- "We are concerned that mammograms and prostate-specific antigen tests have a low cancer detection yield and create more anxiety and monetary waste, yet we aren't concerned that these genetic studies won't do the same thing?" asked a reader. It's a concern that a few major medical organizations have addressed.
Will extensive knowledge of particular genes that are linked to optimal health -- or better yet, linked to beauty, strength, and intelligence -- lead to a seamy underworld where money can buy the perfect progeny?
It's a loaded topic. Even some readers who voted "yes" in the survey felt the need to justify their belief in genetic research by stating their disbelief in eugenics.
One woman noted that people could decide they don't want to pass on "bad" genes to the next generation by choosing not to have biological children. But she quickly followed the statement with this one: "I don't believe in eugenics or anything, don't get me wrong."
A theme that ran through the comments was a concern for too much focus on genetics when "human epigenetics and environmental factors have an enormous effect."
In fact, the Personal Genome Project is doing exactly that. It wants to sequence all 3 billion base pairs of the DNA of 100,000 Americans, combine it with their medical records and environmental exposures, and compare that with their physical traits.
The information would be available to anyone, with the intention of better understanding how genes and environment "influence each other to produce an individual, warts and all."
For the most part, readers were optimistic about what genetic research can potentially do for medicine.
The survey question dealt specifically with a study that found a single set of genetic variants was linked to five different psychiatric disorders -- autism, attention deficit-hyperactivity disorder (ADHD), bipolar disorder, major depressive disorder, and schizophrenia.
One woman was comforted to see these disorders "all on a spectrum. Hopefully, this will eventually lead to more coherent treatment for these ills."
Another poster expressed dismay for the current state of psychiatry, calling it an "educated guessing game." This reader blasted the Diagnostic and Statistical Manual of Mental Disorders (DSM), saying that if DSM is an "accurate representation of the sorry state of the discipline, it's time to either legitimize the field with some meaningful scientific information or to eliminate it entirely."
Some readers acknowledged the need for genomic research, but asked if it would be wiser to allocate some of the research dollars to social programs intended to help those with mental illness.
One woman reminded readers about how certain diseases or conditions "run in families." She listed common to her heritage: fibromyalgia, Asperger's syndrome, anxiety disorders, intestinal disorders, and bone disorders. "I know that if I were to have a biological child, they would most definitely have at least one illness," she added.
Genomic research was compared to the space program: an exciting time of exploration that has the potential to change the world. After all, the research that sent the first astronauts to the moon helped to spawn the age of miniaturization, which led to today's iPads, implantable-cardioverter defibrillators, and Google Glasses (due out this year but already banned in a Seattle bar).
Not everybody was enthused about space exploration, however. This reader analogized wasted genetic research with traveling to the final frontier: "The results [of genomic research] so far have no practical use, with very few exceptions. But people continue to believe it is beneficial. But going to Mars does not have any practical benefit either (except bragging rights)."
A science professor and grandmother of an autistic boy praised basic genetic research, saying it is part of the process of finding "practical ways to help children," adding that they are "certainly" worth the cost.
Others said they'd be happy when researchers connect specific mental disorders with specific gene mutations because it would help reduce the stigma attached to these ailments, undermining the belief that one needs more mental self-discipline to get the schizophrenic mind to think straight.
"We still have this idea that with enough powerful thinking, we can just will ourselves out of a mental illness. Could you imagine doctors prescribing positive thinking and group therapy for patients to will themselves from having cancer?" commented a reader.
Speaking of cancer, much research has been conducted to find genetic markers that help determine which tumors are more resistant to chemotherapy, including small, node-negative tumors in the lungs of smokers, pancreatic cancer, and early-stage, nonsquamous non-small cell lung cancer.
Here's a small sampling of other areas of genetic research covered by MedPage Today:
Finally, a comment from a reader that perhaps captures the essence of why genetic research is important: "The cost of unnecessary ignorance is too great."