Tag: Medicine

Your health is your health

By Razib Khan | March 7, 2013 3:57 pm

A quick personal story. I have a treatable autosomal dominant condition. For the non-geneticists, that means any of my children have a 50% chance of exhibiting the trait. Even aggressive treatment is not usually initiated until one is in elementary school. But we want to know now, just so we can know (we plan to have more children soon, so we want to anticipate medical expenses or lack thereof, and well, just to know). When my wife went to the doctor today for a routine checkup for my daughter she asked for a blood test to confirm that my daughter exhibited, or did not, exhibit the symptoms (this is not a common SNP for what it’s worth).

Though the doctor was skeptical of the effectiveness of the test at this age, she also (according to my wife) decided to give my wife a lecture on the appropriateness of testing. Here’s what my wife emailed me:

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CATEGORIZED UNDER: Medicine
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Doctors are apparently gods, get used to it

By Razib Khan | October 29, 2012 9:24 am

Here’s a caption from a Time article, What Your Doctor Isn’t Telling You About Your DNA:

Nice to know that two physicians in Philadelphia not only have medical degrees, but specialize in mind-reading the parents of this nation! Above the caption is a photo of  the two concerned and worried looking professionals in question. Let me quote the first two paragraphs of the article:

The test results were crystal clear, and still the doctors didn’t know what to do. A sick baby whose genome was analyzed at the Children’s Hospital of Philadelphia turned out to possess a genetic mutation that indicated dementia would likely take root around age 40. But that lab result was completely unrelated to the reason the baby’s DNA was being tested, leaving the doctors to debate: Should they share the bad news?

When it comes to scanning DNA or sequencing the genome — reading the entire genetic code — what to do with unanticipated results is one of the thorniest issues confronting the medical community. Many conflicted discussions followed the dementia discovery at the Children’s Hospital of Philadelphia (CHOP) before a decision was reached: the parents would not be told that this fatal memory-sapping disease likely lurks in their child’s future. Given the hopelessness of the situation, with no treatment and no cure, the doctors said forwarding such information along felt pointless. We came around to the realization that we could not divulge that information,” says Nancy Spinner, who directs the hospital laboratory that tested the infant. “One of the basic principles of medicine is to do no harm.”

The fourth in a five-part series exploring the promise and pitfalls of sequencing children’s genomes

Around the same time, Spinner’s lab also tested another child — an unusually short 2-year-old referred for kidney disease — and discovered the toddler had a gene linked to a rare form of colon cancer. In some cases, polyps arising from this kind of cancer have been known to develop as early as age 7. This time, the decision to inform the parents was easier: We feel good about that one,” says Spinner. “Proper screening can make a huge difference.”

 

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CATEGORIZED UNDER: Genetics, Genomics
MORE ABOUT: Medicine

None dare call it eugenics!

By Razib Khan | April 16, 2012 9:37 pm

Well, almost no one:

“The unspoken central reason for the societal taboo and the penal ban on incest is the possibility of hereditary defects — a factor that Strasbourg only hinted at. But the intention behind the eugenic argument is one that is indefensible, and not just in Germany with its terrible Nazi past: The increased risk of hereditary defects does not justify a legal ban. Otherwise you would have to legally ban other risk groups, like women over 40 or people with genetic diseases, from having children. Does anyone truly want to prevent predictable disabilities using penal measures and thus deny disabled children the right to life in 2012? That’s absurd. And yet such fears of genetic damage are precisely what shape the punishibility of sexual intercourse between siblings.”


There are a set of arguments against near relation incest which strike me as generally ad hoc. And there’s social science to back that up. Incest is reflexively disgusting to most people (depending on how it is categorized). But disgust alone is not a sufficient grounds for banning a practice in educated circles today, so people create rationales after the fact. David Hume would not be surprised.

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CATEGORIZED UNDER: Human Genetics, Medicine
MORE ABOUT: Genetics, Medicine

Doctors and life expectacy

By Razib Khan | April 8, 2012 5:18 pm

A friend pointed me to the following infographic on the concentration of doctors per county. The orange represents “very high need,” and dark blue “very low need.”

Now let’s compare it to life expectancy by county:

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American medicine & American red-tape

By Razib Khan | February 13, 2012 6:08 pm

I just attended a presentation where a researcher outlined how epigenomics could help patients with various grave illnesses. Normally I don’t focus on human medical genetics too much because it always depresses me. I don’t understand how medical geneticists don’t start wondering what hidden disease everyone around them has. In any case the researcher outlined how epigenomic information allowed for better treatment, so as to extend the lives of patients. All well and good. But then one individual in the audience began asking pointed questions as to the medical ethics of the enterprise, and whether the researcher had cleared some legally sanctioned hurdles. More specifically, there was a question whether exploring someone’s epigenomic profile might expose private information of their relatives! (because relatives share epigenomic and genomic profiles to some extent)

Frankly I began to get enraged at this point. People are suffering from terminal illnesses, and considerations of the genetic privacy of their near relatives are looming large? Seriously? The reality is that manifestation of a disease itself gives one information about the risks of their relatives. In any case, the researcher admitted that further progress in this area is probably going to be due to the investments of wealthy individuals (e.g., people like Steve Jobs who have illnesses) as well as outside of the United States. You’re #1 America!

CATEGORIZED UNDER: Health, Human Genetics, Human Genomics
MORE ABOUT: Medicine

"Doctors don't cure nothing"

By Razib Khan | January 1, 2012 2:00 pm

NSFW


As I observed before, modern medicine is subject to some of the same statistical issues as social science in its tendency to put unwarranted spotlight on preferred false positive results. Trials and Errors – Why Science Is Failing Us:

This doesn’t mean that nothing can be known or that every causal story is equally problematic. Some explanations clearly work better than others, which is why, thanks largely to improvements in public health, the average lifespan in the developed world continues to increase. (According to the Centers for Disease Control and Prevention, things like clean water and improved sanitation—and not necessarily advances in medical technology—accounted for at least 25 of the more than 30 years added to the lifespan of Americans during the 20th century.) Although our reliance on statistical correlations has strict constraints—which limit modern research—those correlations have still managed to identify many essential risk factors, such as smoking and bad diets.

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CATEGORIZED UNDER: Culture, Medicine

Up with nurses! Down with doctorates!

By Razib Khan | October 1, 2011 1:48 pm

In light of growing health care costs and the demographic reality of an aging profession stories like this one in The New York Times are both depressing and hopeful. Calling the Nurse ‘Doctor,’ a Title Physicians Oppose:

But while all physician organizations support the idea of teamwork, not all physicians are willing to surrender the traditional understanding that they should be the ones to lead the team. Their training is so extensive, physicians argue, that they alone should diagnose illnesses. Nurses respond that they are perfectly capable of recognizing a vast majority of patient problems, and they have the studies to prove it. The battle over the title “doctor” is in many ways a proxy for this larger struggle.

Six to eight years of collegiate and graduate education generally earn pharmacists, physical therapists and nurses the right to call themselves “doctors,” compared with nearly twice that many years of training for most physicians. For decades, a bachelor’s degree was all that was required to become a pharmacist. That changed in 2004 when a doctorate replaced the bachelor’s degree as the minimum needed to practice. Physical therapists once needed only bachelor’s degrees, too, but the profession will require doctorates of all students by 2015 — the same year that nursing leaders intend to require doctorates of all those becoming nurse practitioners.

Nursing is filled with multiple specialties requiring varying levels of education, from a high school equivalency degree for nursing assistants to a master’s degree for nurse practitioners. Those wishing to become nurse anesthetists will soon be required to earn doctorates, but otherwise there are presently no practical or clinical differences between nurses who earn master’s degrees and those who get doctorates.

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CATEGORIZED UNDER: Medicine
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When the doctor is a patient….

By Razib Khan | April 14, 2011 12:17 am

So I’ve been seeing headlines like this today: Physicians Recommend Different Treatments for Patients Than They Choose for Themselves, Study Finds. Here are the numbers:

A total of 242 physicians returned the colon cancer questionnaire (response rate of 48.4 percent), and when asked to imagine they had received the cancer diagnosis, 37.8 percent of physicians chose the surgical procedure with a higher rate of death, but a lower rate of adverse effects. Conversely, when asked to make a recommendation for a patient, only 24.5 percent of physicians chose this option.

The second scenario asked 1,600 physicians to imagine that a new strain of avian influenza had just arrived in the U.S. One group of physicians were asked to imagine they had been infected, and the other group was asked to imagine that his or her patient was infected. One treatment was available for this strain of influenza: an immunoglobulin treatment, without which persons who contract flu have a 10 percent death rate and a 30 percent hospitalization rate with an average stay of one week. The treatment would reduce the rate of adverse events by half, however it also causes death in 1 percent of patients and permanent neurological paralysis in 4 percent of patients.

The avian influenza scenario was returned by 698 patients (response rate of 43.6 percent), and 62.9 percent of physicians chose to forgo immunoglobulin treatment when imagining they had been infected, to avoid its adverse effects. However, when imagining that a patient had been infected, only 48.5 percent of physicians recommended not getting the treatmen

I actually would have thought that the differences would have been stronger than they ended up being. My needle of trust in physician objectivity just went up! Though perhaps my expectation was a little too pessimistic.

CATEGORIZED UNDER: Health
MORE ABOUT: Health, Medicine

Don't genetically profile yourself just yet…perhaps

By Razib Khan | July 7, 2010 10:52 am

Newsweek has a long piece up which reviews some major issues with the new study of centenarians that’s been all over the media right now. Ed Yong already covered the paper, but I’m going to look at the details myself. Here’s a update from the Newsweek post:

Within an hour of this story’s publication, the Science study’s authors released a statement which a BU spokeswoman described as appearing “because of your inquiry and a similar one from the New York Times concerning methodology used to test 2 of the 150 genetic variants.” Here is what the statement says: “Since the publication of our study in Science, which was extensively peer-reviewed, a question has been raised about two elements of the findings. One has to do with two of the 150 genetic variants included in the prediction model, while the other is related to the criteria used to determine the significance of the individual variants. On the first concern, we have been made aware that there is a technical error in the lab test used on approximately 10% of the centenarian sample that involved the two of the 150 variants. Our preliminary analysis of this issue suggests that the apparent error would not effect the overall accuracy of the model. Because the issue has been raised since the publication of the paper, we are now closely re-examining the analysis. Another question that was raised concerns the criteria used to determine if an association between a genetic variant and exceptional longevity was statistically significant. We used standard criteria for the analysis, and we are confident that the appropriate threshold was used.”

CATEGORIZED UNDER: Medicine
MORE ABOUT: Genetics, Medicine
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This blog is about evolution, genetics, genomics and their interstices. Please beware that comments are aggressively moderated. Uncivil or churlish comments will likely get you banned immediately, so make any contribution count!
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