Articles Posted in Genetic Testing

23andMetest-300x229Federal regulators have reversed themselves and approved a company’s controversial plan to sell direct to customers saliva-based tests that can predict their genetic risk for diseases like Alzheimer’s and Parkinson’s.

Officials of the federal Food and Drug Administration emphasized that the tests cannot show conclusively if individuals will develop conditions for which they may have genetic risk. They said any health test results should be discussed fully with doctors.

The FDA said it would keep close tabs on the online-order products of  23andMe, which previously had sought to market its saliva tests not only for consumers’ genealogies but also for their health interests. The FDA slapped down the firm’s first foray into health measurements:  23andMe in 2013 had charged $99 for a test that it claimed gave information, genetic and otherwise, on 240 conditions and traits. Regulators halted those tests, requiring 23andMe and others in the field  to prove their products’ accuracy and to clarify that users understood what they were paying for and any test data.

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Celebrity is a powerful force in public opinion, and it often has been pursued by medical experts eager to tap its do-good potential. But a pair of recent star turns on preventive testing have caused consternation over their unintended and unwelcome outcomes. Have Angelina Jolie and Ben Stiller led their fans astray, prompting some to misunderstand the best, most current, evidence-based thinking on cancer care and others even to undergo unnecessary, invasive, and costly screenings?

New research, published in the peer-reviewed and well-respected British Medical Journal (aka the bmj), examined the aftermath of Jolie’s disclosure, in a New York Times Op-Ed three years ago, that she had been tested and found to carry the BRCA gene mutation that predisposes some women to breast and ovarian cancer.

She urged women to be screened for BRCA and told how, prophylactically, she had decided to undergo a double mastectomy and reconstructive surgery. She said she did not make this decision lightly and did so only based on her mother’s early cancer death and after Jolie received extensive medical counsel. To Jolie’s credit, her Op-Ed was thoughtful, careful, and nuanced. It was more disclosure than advocacy by one of the globe’s mega-stars, partly explaining her prolonged absence from the spotlight’s glare. Although the piece said the BRCA mutation is not common and the decisions can be complex about surgery and other means to deal with its potential effects, did that message get through?

newborninhospital_mhi_default-300x199Some new cautions have been issued on some key aspects of children’s health care. The federal government is increasing its warnings on anesthetic use for children and expectant moms, while a newspaper investigation is raising issues with common newborn screenings and their inconsistency and inaccuracy. Meantime, a health news site is adding to questions about a much-touted program to reduce head trauma harms in kids’ athletics.

FDA warnings on anesthetics for babies, expectant moms

Let’s start with the federal Food and Drug Administration cautions on “repeated and lengthy use of general anesthetic and sedation drugs” with children younger than 3 and pregnant women. The agency says it has been studying potential harms of these powerful medications for these two groups since 1999, and will label almost a dozen common anesthetics and sedation drugs with new warnings.

seqcore_slider_img_resizedAlthough doctors and hospitals report potentially sunnier news by the day about novel cancer treatments, it’s also worth keeping in mind that difficult obstacles like data misinterpretation still must be worked out to avoid endangering patients. The therapies themselves as well as cancer care overall can be crushing in their costs. And some experts also are raising questions about Big Pharma and the independence of advocacy groups that patients and families often turn to when diagnosed with different cancers.

Let’s start with the ray of optimism that the Washington Post reported for patients with advanced lung cancer. It kills more than 160,000 Americans annually, and isn’t diagnosed often until it reaches late stages. Lung cancer, the Post says, retains its stigma because of its proven link to smoking. Both smokers—and nonsmokers who also may develop the disease for many other complex reasons—are blamed for causing their own illness.

Oncologists have begun to look at this cancer not as one but many different disease, and the paper says immunotherapy may improve outcomes for a slice of late-stage patients, halting the disease’s spread and without the significant side-effects of current chemo or radiation treatments. In immunotherapy, patients’ cancers are tested to determine which drugs may best target and destroy tumors by unleashing the bodies’ own disease-fighting (immunity) systems.

Facts line up in some challenging ways:

Cranberries20101210Cranberry juice doesn’t work on urinary tract infections

Despite longtime belief in its potency, cranberry juice doesn’t help women with urinary tract infections (UTIs), new research confirms. Experts administered cranberry capsules to 185 female nursing home patients for a year. The standardized doses were equal to  drinking 20 ounces of juice daily. They fared no better with UTIs. That led the peer-reviewed Journal of the American Medical Association to editorialize that, “The continuing promotion of cranberry use to prevent recurrent UTI in the popular press or online advice seems inconsistent with the reality of repeated negative studies or positive studies compromised by methodological shortcomings. Any continued promotion of the use of cranberry products seems to go beyond available scientific evidence and rational reasoning.” JAMA says it is time not only to bust this myth but for proponents, including those who have a well-intentioned wish to find antibiotic alternatives, to “move on.”

hobson-theranos-1-rkIt sounds so simple that many Americans, especially with modern DIY  technology, may want to try: To get healthier, why not go out and get every possible diagnostic test done? Especially if all it takes is a drop or two of blood: Wouldn’t this increase early detection of disease and make for quicker treatment and better health?

Think again, please. This is a more nuanced issue with potentially significant cost implications and health risks from inevitable test foibles and inaccuracies, as some nifty reporting by the numerically oriented folks at the online site 538 have shown.

They have joined in the increasing media take-down of Theranos, a gee-whiz company that became a Wall Street favorite. The firm ─which is under regulatory fire for hyping its product─not only claims it has proprietary processes that will make blood testing faster, more convenient, and cheaper, it also says that its work-ups should become more ubiquitous. Theranos says patients who undergo more blood tests might learn about possible diseases sooner and get treated better.

zapSome recent health headlines have made stories sound so enticing they’re hard to resist:  Are there genetic superheroes walking among us who can provide invaluable clues to preventing deadly diseases? What’s the secret of a big, long lost research study and could it have changed contemporary views on the risks of dietary fat? Should many older Americans who take statins, one of the most commonly prescribed medications, give them up in favor of a more costly therapy? And is there really a dazzling new way to test the blood for health markers?

Skeptics to the front, please. Somehow some very good, very savvy folks, again, are pushing health-related information that needs careful scrutiny or outright howls of complaint. I’ve written about the problems with health care information, and it gives me no pleasure to detail this quartet:

Superhero hype

Scientific research can move with such speed that it can be tough to keep up with it, as steady  advances pile on each other until progress once thought unheard of becomes commonplace. That’s why it can be enlightening to find timely, long-form reporting for savvy but not necessarily technical audiences on topics like human gene editing and the new importance some experts are giving to the role of inflammation in overall health.

In news terms, of course, there have been big developments in Washington about gene editing:  Global experts just gathered and decided that, for now, it would be scientifically possible but irresponsible to introduce changes that can be passed on in the human geonome.

As the New York Times reports, the DC session, which included, in a diplomatic-scientific coup, representatives from China, was convened to allow august research academies to weigh in on a critical controversy caused by:

The DIY movement is all the rage these days, but when it comes to one company’s cancer detection kit, you’re better off not doing it yourself.

As reported last month by Bloomberg News, the FDA deemed Pathway Genomics Corp.’s cancer detection kit marketed to healthy people to be high-risk. It said the kit could harm public health and has no scientific foundation.

The test, called CancerIntercept, sells for as much as $700. The test is ordered by a patient’s doctor or one working for Pathway. It analyzes a blood sample for traces of cancer. The company claims that the test is a less expensive, faster way of detecting tumors.

The more we know about genetics, the better we get at diagnosing and treating disease. At least that’s the way it’s supposed to work. But the line from someone’s genetic profile to a personalized cancer treatment is hardly straight.

Genomic tests look for thousands of gene mutations that might cause or promote cancer growth, but such scans uncover not only problematic mutations, but some that might be harmless.

So, according to a story on NPR, the routine genetic tests a doctor orders to help focus treatment on someone’s tumor can give results that fall into the “too much information” category. They can be ambiguous, and ambiguity is not your friend when targeting a tumor.

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