U.S. task force refines guidelines for women’s genetic cancer screening

brca-cancer-risk-261x300Many more women would benefit if their doctors took time to put them through a relatively easy screening using readily available questionnaires to determine if they might need further specialist assessment and a medical test for a genetic mutation linked to breast and other forms of cancer.

Women, however, should not routinely be subjected to the assessment, counseling, and testing for the BRCA 1 and BRCA 2 mutation, the influential U.S. Preventive Services Task Force has recommended, based on its blue-chip review of medical evidence. The task force gave the broad, routine approach its D grade, as in it should not be done.

The panel gave the careful and appropriate BRCA screenings its “B” grade, meaning they have moderate to significant benefits. The screening by primary care doctors is best suited for women with “a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with breast cancer susceptibility 1 and 2 (BRCA1/2) gene mutations.”

Genetic testing has been a sometimes-confused area of breast cancer care, as the Associated Press reported:

“At issue are genes called BRCA1 and BRCA2. When they’re mutated, the body can’t repair damaged DNA as well, greatly increasing the chances of breast, ovarian and certain other cancers. Gene testing allows affected women to consider steps to lower their risk, such as when actress Angelina Jolie underwent a preventive mastectomy several years ago.”

The Wall Street Journal reported on the value of this screening and testing:

“It is estimated that less than 1% of all women have mutations in either of the BRCA genes. BRCA mutations account for 5% to 10% of breast cancer cases and 15% of ovarian cancer cases, according to figures provided by the task force. For women in the U.S., breast cancer is the most common cancer after nonmelanoma skin cancer and the second leading cause of cancer death. In 2017, an estimated 252,710 women in the U.S. were diagnosed with breast cancer and 40,610 died of the disease, according to the American Cancer Society.”

Although BRCA testing has become more common, misdiagnoses have arisen as an issue with them, especially experts say, because doctors did not test appropriately. They failed to screen and test women with familial histories of the mutation and cancer incidence, especially in themselves and in family members. As the AP reported:

“Why screen breast cancer survivors? After all, they already know there’s a risk of recurrence. Take, for example, someone who had a tumor removed in one breast in their 40s, a decade ago, when genetic testing wasn’t as common. Even this many years later, a BRCA test still could reveal if they’re at risk for ovarian cancer — or at higher than usual risk for another tumor in their remaining breast tissue, explained task force member Dr. Carol Mangione of the University of California, Los Angeles. And it could alert their daughters or other relatives to a potential shared risk. ‘It’s important to test those people now,’ Mangione said. ‘We need to get the word out to primary care doctors to do this assessment and to make the referrals.’”

The rigorous review and recommendations from the independent and respected USPSTF carries weight. That’s because “Private insurers follow task force recommendations on what preventive care to cover, some at no out-of-pocket cost” under the Affordable Care Act, aka Obamacare, the AP noted.

In my practice, I see not only the harms that patients suffer while seeking medical services, but also the damages that can be inflicted on them due to over screening, over testing, over diagnoses — and misdiagnoses — and over treatment.

These medical excesses, experts estimate, add $200 billion in unnecessary expenses to our care, with over-treatment costing 30,000 lives a year of older (Medicare) patients alone. Look at your own bills and see how a routine, relatively inexpensive doctor visit can blow up with added testing costs. These might include tests for cholesterol (costing as much as $1,000), Vitamin D deficiency ($50 or so), diabetes (blood sugar $20), breast (mammograms, often covered by insurance but $20 to $60), or prostate cancer (PSA test $40).

To be sure, appropriate, timely medical tests and screens can be life-changing, even lifesaving. But experts—including Uncle Sam, the nonpartisan and independent Consumers Union, and more than two dozen leading groups representing an array of medical specialists—warn that American doctors and hospitals reflexively order too many tests whose potential harms outweigh their benefits.

When patients are subjected to needless procedures, they also increase their health care risks, especially with medical errors. Medical errors claim the lives of roughly 685 Americans per day — more people than die of respiratory disease, accidents, stroke and Alzheimer’s. That estimate comes from a team of researchers led by a professor of surgery at Johns Hopkins. It means medical errors rank as the third leading cause of death in the U.S., behind only heart disease and cancer.

Further, if doctors screen and test inappropriately or incorrectly, as occurs with BRCA and cancers, they can cause harm with misdiagnoses. Experts say that once in every nine minutes, someone in a U.S. hospital dies due to a medical diagnosis that was wrong or delayed. Roughly one in 10 patients with a serious disease is initially misdiagnosed. Diagnostic errors affect an estimated 12 million Americans each year and likely cause more harm to patients than all other medical errors combined. Misdiagnoses boost health costs through unnecessary tests, malpractice claims, and costs of treating patients who were sicker than diagnosed or didn’t have the diagnosed condition. Experts recently noted in a health care online report that inaccurate diagnoses waste upwards of $100 billion annually in the U.S. These estimates come from the Society to Improve Diagnosis in Medicine, a group of doctors, researchers, health care providers, advocates and others that seeks to improve practices in the field to benefit patients and their safety.

By the way, it is important to note the BRCA testing isn’t a “women’s issue.” Men should care about it for two reasons: First, males can pass the defective gene to children, whether or not the man gets cancer. Second, while the BRCA mutation usually hits women — with a five-fold higher risk of breast cancer and 10- to 30-times higher risk of ovarian cancer — men too with a defective BRCA gene have higher risks of some cancers, particularly colon, pancreas and prostate.

We’ve got a better handle now on how to screen, counsel, and test patients about BRCA. Now we have lots of work to do to apply that experience and knowledge to better patients’ health and reduce the injury and death of cancer.

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