Articles Posted in Genetic Testing

debtyoungmed-300x177Big Data may be a business buzzword that puts most consumers into a big sleep, but big alarms are sounding for Americans about Big Brother intrusions into their lives via the collection and analysis of vast amounts of highly personal information. Of course, Big Pharma and medical insurers are at the fore of invasive practices — some of which patient-consumers themselves are helping, likely without knowing they’re doing so.

Millions of Americans may be little aware, for example, that they’re now working for GlaxoSmithKline, a global pharmaceutical conglomerate with $9 billion in revenues in just the most recent quarter. GSK just struck a $300-million deal with 23andMe, the company that has persuaded roughly 5 million consumers to spit in a test tube to get a glimpse of their genetic information, notably information about their ancestry and purportedly some of their genomic health risks.

Firms like 23andMe, with promotions at events like Baltimore Ravens pro football games, also have amassed highly personal genetic and medical data on millions of patient-consumers, promising to protect the information but also offering, casually and by the way, that this vital information could be shared — ostensibly for the betterment of public health.

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Breast cancer patients may get a welcome respite from one of the disease’s dreaded aspects — its aggressive and costly treatments. New research suggests that thousands of women with early-stage breast cancer who now are told to get chemotherapy don’t need it, while a larger, significant number of patients can benefit by halving the time they’re told to take an expensive drug with harsh side-effects, especially for the heart.

Although this information should be taken in a positive light, patients should consult with their doctors about appropriate treatment for their individual case.

The prospective shifts in breast cancer treatment, based on new findings, may add to rumblings and criticisms about over-treatment and whether doctors have taken too lightly the toll — physically, mentally, and financially — that this and other forms of cancer inflict on patients.

wheartatttack-238x300As cardiologists and oncologists swap cross-fire about the conditions they treat and how they do so, here’s hoping that, above all, their female patients end up helped and not harmed, getting vital information about risks and benefits of therapies for two of the leading killers of women: heart disease and breast cancer.

What’s behind the medical specialists’ cross currents? Cardiologists and the American Heart Association are pointing to a major therapeutic statement published in the medical journal Circulation.

On the one hand, it provides what many see as an important, needed call to doctors of all kinds to recognize that heart disease among women goes “dangerously under-diagnosed and under-treated,” due in no small part because practitioners still fail to see that women suffer heart attacks in different ways than do many men. They do not, for example, suffer stabbing chest pain, radiating into the arm. Instead, as they experience clogs in tiny veins and arteries, they may feel a constant exhaustion and a discomfort as if they were having their chest squeezed or crushed.

precise-223x300Although billions of dollars and lots of positive public attention have been lavished on the promise of genetic-based “precision medicine,” this therapeutic approach to treating cancer and other serious diseases may need more scrutiny for basics of quality control.

National Public Radio deserves credit for airing some less-heard experts’ worries about the roles of at least two groups of little-seen and often-ignored medical specialists — pathologists and med techs — and how their common practices may undercut the potential of efforts to target disease treatments to individual patients based on maps of their genes.

Despite its powerful and progress-promising name, precision medicine relies on some old-fashioned, unchanged, and possibly problematic medical techniques, experts told NPR. Blood and tissue samples, which later will be analyzed with costly and supposedly state-of-the-art equipment, still get taken by med techs with limited training. Little attention typically gets paid to how they collect samples and how carefully they get handled before arriving in labs. They may sit on carts for hours, and they may be dragged through different parts of hospitals where temperatures vary widely and can hit extremes.

ravensLet’s give a hurrah for Maryland health officials — they threw a red flag at a high-tech startup that planned with the Baltimore Ravens football team to serve up a mass genetic screening test at a recent game. The blunt reality is this would have been genetic malarkey.

This incident should serve as a reminder, caveat emptor, to consumers, even in settings of good cheer. It should offer a caution to those who stage big public events, like sports leagues, that health matters and highly personal and confidential medical information isn’t handled well at spectacles.

Shall we also offer a Bronx cheer for Orig3N, a Boston company that offers direct-to-consumer “genetic testing,” and talks on its web site about everything from organ donation to regenerative and personalized medicine as well as its commitment to public service? The company, a new Ravens sponsor, planned a recent promotional Sunday when it would offer its mouth swab tests to 55,000 fans flocking to the contest against the Cleveland Browns.

dna-208x300Pathologists are the medical specialists whom few patients ever meet, but they play increasingly important roles in treatment decisions. Some new reports raise concerns about systematic errors in the path lab.

The New York Times painted a surprisingly distanced picture of the work of pathologists in a recent report on these medical doctors who are trained to interpret an array of laboratory tests and often microscopic materials to determine the care for complex diseases.

The paper found that the specialists and their labs mislabeled and mixed up patient samples and results, as well as sometimes contaminating them—yes, rarely, but with potentially significant harms. Erroneous results could lead to misdiagnoses, resulting in patients getting wrong or ineffective treatment, especially for cancers, experts say.

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.

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