February 22nd, 2011 by Medgadget in Better Health Network, Research
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The human genome has been around for a bit more than ten years, but on February 15, 2001, the first complete human genome sequence was published. This was nothing short of a revolution within medicine. Since then, great advancements have been made in our understanding of genetics and its associations with human traits and diseases.
Nature is celebrating this tenth birthday with a special titled “Human Genome at Ten.” In it, multiple papers reflect on what we learned and discovered, what is still unknown, and what we can expect for the near future. Best of all, Nature has packaged the special in a free iPad app for everyone to read, which features interactive graphs, videos, and audio commentaries.
Nature special: The Human Genome at Ten…
iTunes link: Nature Human Genome Special Edition…
*This blog post was originally published at Medgadget*
January 22nd, 2011 by GarySchwitzer in Health Policy, Opinion
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In a recent issue of the British Medical Journal (BMJ), journalist Ray Moynihan wrote: “Beware the fortune tellers peddling genetic tests.” (Subscription required for full access.) Excerpts:
“For anyone concerned about the creeping medicalisation of life, the marketplace for genetic testing is surely one of the latest frontiers, where apparently harmless technology can help mutate healthy people into fearful patients, their personhood redefined by multiple genetic predispositions for disease and early death.
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Again a tool that’s proved useful in the laboratory has escaped like a virus into the marketplace, incubated by entrepreneurs, lazy reporters, and the power of our collective dreams of technological salvation, this time in the form of personalised medicine to treat us according to our individual genetic profiles.
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Evaluating genetic tests is a complex business, requiring assessment of how well the test measures what it claims to measure, how well the genetic variation predicts actual disease, how useful the results are in terms of treatment, and what the social and ethical issues might be. Clearly there’s potential for exaggerating the value of a genetic test, which is one reason Germany has imposed severe restrictions on direct-to-consumer testing. In the United States they’re talking of a new test registry on a government website, raising immediate concerns that it could lend legitimacy to unproved and potentially harmful products. Read more »
*This blog post was originally published at Gary Schwitzer's HealthNewsReview Blog*
January 20th, 2011 by Medgadget in Better Health Network, Research
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Genome-wide profiling is increasingly being marketed towards consumers to assess their risk of developing certain diseases. However, there has been little research into the psychological effects of these tests.
Researchers from Scripps Translational Science Institute have now looked into these effects in a large group of patients. They followed 2,037 participants who took the Navigenics Health Compass, a test that assesses the risk for about 20 common diseases, for a period of three months.
Taking the test did not increase anxiety symptoms, dietary fat intake, or exercise behavior. There was some test-related distress correlated with the average estimated lifetime risk of getting the diseases tested for, but at the same time 90.3 percent of all subjects had no test-related distress at all. The use of screening tests did not change among the group and notably health effects of the test were not studied.
In conclusion, personal genetic testing does not seem to generate a lot of distress, although the study was clearly limited by a high dropout percentage of 44 percent and the self-selection of participants who opted to do the test.
Article in New England Journal of Medicine: Effect of Direct-to-Consumer Genomewide Profiling to Assess Disease Risk
Flashback: An Interview with Navigenics…
*This blog post was originally published at Medgadget*
January 5th, 2011 by Toni Brayer, M.D. in Better Health Network, Book Reviews, Opinion, Research
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If you like science, true history, and an engaging story, pick up the new book by journalist Rebecca Skloot, “The Immortal Life of Henrietta Lacks” and prepare for a great read. I knew nothing about the young black woman whose cells were taken back in 1951 by a scientist at Johns Hopkins Hospital and how those cells have revolutionized modern cell biology and research.
The HeLa (named after HEnrietta LAcks) cells were taken as she lay dying on the “colored” ward at Johns Hopkins Hospital of aggressive cervical cancer at age 30. Everyone who studies basic cell biology has heard of HeLa cells because they were the first human cell line to be successfully grown in culture and they are alive today. HeLa cells were sent to researchers all across the globe and have been used to develop the polio vaccine, viruses, cloning, gene mapping and in-vitro fertilization. Billions of the same immortal HeLa cells are used by researchers fighting cancer, multiple sclerosis, heart disease, and diabetes. Read more »
*This blog post was originally published at EverythingHealth*
January 3rd, 2011 by Michael Kirsch, M.D. in Opinion, Research
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The medical profession’s ability to diagnose far exceeds its ability to effectively treat the conditions discovered. Consider arthritis, Parkinson’s disease, irritable bowel syndrome, strokes, emphysema, and many cancers.
When a physician orders a diagnostic test, ideally it should be to answer a specific question, rather than a buckshot approach. A chest X-ray is not ordered because a patient has a cough. It should be done because the test has a reasonable chance of yielding information that would change the physician’s advice. If the doctor was going to prescribe an antibiotic anyway, then why order the chest X-ray?
Physicians and patients should ask before a test is performed if the information is likely to change the medical management. In other words, is a test being ordered because physicians want to know or because we really need to know the results?
Does every patient with a heart murmur, for example, need an echocardiogram, even though this test would be easy to justify to patients and to insurance companies? If the test won’t change anything, then it costs dollars and makes no sense. Spine X-rays for acute back strains are an example of a radiologic reflex. Read more »
*This blog post was originally published at MD Whistleblower*
