Articles Posted in Genetic Testing

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.

This summer, the National Institutes of Health (NIH) began a campaign to define, explain and find support for disorders whose origins and treatments are unknown. The Undiagnosed Disease Network is composed of six medical centers around the country focused on the most difficult-to-solve medical cases.

They will conduct clinical evaluation and scientific investigation in cases that involve patients with prolonged undiagnosed conditions.

As described in the Los Angeles Times, it is hoped that the “whodunnit” initiative will clear a backlog of medical cold cases with “dazzling” new tools yielded by medical sleuths. In addition to helping patients who shuffle from doctor to doctor in search of answers to a disorder no one can pin down, it’s also an opportunity for scientists to glean new insights into the human genome and how it causes – and maybe cures – disease.

Last month we reported that the FDA had clamped down on 23andMe, a consumer genetic testing service whose results might be less than accurate. 23andMe isn’t the only such service hoping to make money off your DNA, and it’s human nature to want to know what you’re made of.

Kira Peikoff wanted to know, and her story in the New York Times, “I Had My DNA Picture Taken, With Varying Results,” perfectly illustrates the rocky informational terrain genetic testing can carve.

Peikoff, who is 28, has a family history of heart disease, rheumatoid arthritis, Alzheimer’s disease and breast cancer. In the interests of both her personal health profile and science, she tried three different testing services to see if they provided consistent results.

Federal regulators are catching up to some warnings we and others issued a year ago about hype in the genetic testing industry.

We blogged about 23andMe, a company that offers genetic testing directly to consumers. We also devoted an issue of our newsletter to explaining how genetic testing works, and the implications for the medical consumer.

As we concluded then, genetic testing can be a valuable and useful tool for diagnosing and treating medical conditions. But it’s also a minefield for miscommunication, overtesting, overtreatment and emotional turmoil.

Patrick Malone & Associates, P.C. listed in Best Lawyers Rated by Super Lawyers Patrick A. Malone
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