Posts made in May, 2018

As Genetic Testing for Breast Cancer Gene Mutation Expands, Questions Arise About Treatment Decisions

Posted on May 18, 2018

This post originally appeared on The Conversation on May 3, 2018.


The Food and Drug Administration recently announced its authorization that permits genetics testing company 23andMe to market a test for gene mutations associated with risk of breast and ovarian cancer.

In response, 23andMe CEO Anne Wojcicki asserted that the test represents a “major milestone in consumer health empowerment.”

Media articles following this announcement made it clear even if the test provides an accurate result, there are significant limitations for 23andMe’s version of the test about which consumers should be aware. Notably, 23andMe discloses that the test only provides information on three genetic variants found on the BRCA1 and BRCA2 genes known to be associated with a higher risk for breast, ovarian and prostate cancer in people of Ashkenazi Jewish descent.

According to the FDA, most mutations that would increase an individual’s risk are not detected by the test, including mutations that may occur in other patient populations.

As a health law professor and bioethicist, here are some things I think that patients should know about genetic tests and how to think about risk.

A bit about assessing risk

Research shows that women overestimate their risk of cancer and overestimate the potential of dying of cancer. This anxiety may prompt women to seek aggressive interventions even when they do not have cancer. In one study, 32.9 percent of women without a BRCA mutation who received a false positive (indicated they had cancer when in fact they did not) on a screening test for ovarian cancer and had no ovarian cancer opted for surgical removal of their ovaries, or an oophorectomy.

It is imperative to address this anxiety and situate what a cancer risk means for patients.

For starters, it is important to know that the chance of having a BRCA mutation is exceedingly rare, with only about 0.2 percent of population affected. Put another way, in a room of 500 women, only 1 would have a BRCA mutation that increases her baseline risk of breast and ovarian cancer. But even this woman with a BRCA mutation may never develop breast or ovarian cancer during her lifetime. In fact, 90 to 95 percent of most cancer diagnoses can be attributed to environmental and lifestyle factors, not an inherited faulty gene.

According to the Fred Hutchinson Cancer Research Center, up to one-third of cancer-related deaths are due to obesity and sedentary lifestyle. “Exercise is one of the most important actions you can take to help guard against many types of cancer,” experts at Fred Hutchinson say. A trial published in JAMA Internal Medicine confirmed the strength of dietary modification to drastically reduce risk of breast cancer. This information should be empowering. Many patients have much more control over certain – but not all – risks than they may have thought.

These discussions raise broader questions about how we treat patients regardless of whether they have an increased risk of cancer based on genetic testing or fall into a high risk category based on family history. For patients to make meaningful health decisions, they must have accurate information that includes understanding the risks and benefits of each choice.

Implications for overtreatment

Overtreatment that stems from anxiety not only leads to unnecessary and potentially harmful interventions for the patient, but it implicates physician liability. Traditionally, oncologists may favor an aggressive approach, offering and recommending interventions as a means to avoid malpractice litigation arising from patient perception that a physician could have intervened sooner. Aggressive treatment prompted by a patient’s anxiety requires further scrutiny specifically because each preventive intervention entails serious risks.

To note, 23andMe does caution that its test results should not be used on their own to make medical decisions. Women who test either positive or negative should still follow up with their physicians, both 23andMe and the FDA say.

If a woman has a BRCA mutation that increases her risk of cancer, the physician would likely recommend a risk-reducing measurerecommended by the National Cancer Institute: chemopreventionpreventive mastectomy with reconstruction, and surgical removal of ovaries and fallopian tubes, called salpingo-oophorectomy.

In the majority of cases, women who undergo mastectomy also opt for implant reconstruction, and women who undergo salpingo-oophorectomy begin taking synthetic hormone replacement therapy.

In my research, I’ve read countless clinical practice guidelines, FDA meeting minutes, congressional hearing transcripts, and case law.

Here’s what I’ve learned: The potential for cancer risk reduction is only the first part of the equation. Yes, these interventions recommended by the National Cancer Institute do reduce risk for breast and ovarian cancer. But they also increase risk of other potentially debilitating or deadly conditions.

Many physicians agree the trade-off of reducing risk of cancer is worth it. But some physicians and patients may not be aware that physicians and clinical practice guidelines may downplay, omit or dismiss risks entirely in a manner that does not necessarily correspond to scientific evidence, but may be informed by financial conflicts of interest.

Health empowerment requires a much broader conversation of what patients – both with and without a BRCA mutation – can do about their risk of cancer. On a population level, I believe everyone should have information on how to reduce cancer risk through diet and lifestyle interventions. Let’s continue the conversation of how to address patient anxiety to prevent needless overtreatment, aim for communication that accurately portrays what risks mean, and determine whether recommended interventions that pose significant risks offer sufficient clinical benefits.

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Hawaii’s New End-of-Life Law: Do the Additional Safeguards Withstand Scrutiny?

Posted on May 18, 2018

This post originally appeared on The Hastings Center Bioethics Forum on May 4, 2018.


Last month, Hawaii became the seventh state, with the District of Columbia, to legalize physician-assisted suicide. Similar to some of the other state laws, Hawaii’s Our Care, Our Choice Act permits competent adults with a terminal illness and a diagnosis of less than six months to live to obtain a lethal prescription to use to take their own lives. Proponents assert the new law, in addition to giving patients a measure of control, autonomy, and dignity, also contains rigorous safeguards. Despite this rhetoric, Hawaii’s law, like legalized PAS in general, raises troubling implications for the standard of care and for transparency. It also highlights the immense power of a lobby, Compassion & Choices, to strategically politicize language and control the public discourse to make legal change appear to result from organic social shifts rather than orchestrated actions.

Terminology matters: framing a lethal prescription as a viable and even desirable alternative to addressing shortcomings in palliative and hospice care obfuscates that “care” and “choice” mean supplying vulnerable patients with a medication to end their life. Under the prevailing medical standard of care, patients who report feeling depressed, a burden to others, trapped, or hopeless, or are struggling with managing their medical condition would ordinarily trigger intervention to address risk factors for suicide. However, lobbyists’ use of euphemistic language may incrementally change how physicians and public health professionals respond to patients who express suicidal thoughts.

Understanding the patient’s psychological condition is important because research in Oregon has found that patients considering PAS have concerns relating to loss of autonomy, ability to engage in activities that make life enjoyable, and loss of dignity. (Contrary to popular belief, excruciating pain is not a substantial factor in patient decisions to seek PAS.)  Under Hawaii’s law, however, a patient may obtain a consultation via telehealth. While telehealth promises to reduce cost and increase efficiency to address other health care issues, we should pause to consider the sufficiency and ethics of a remote consultation with patients to discuss their motivations and screen for potential problems.

I take issue with what I see as a pro forma requirement. It looks like a protection, but it’s not designed to address underlying issues such as a patient’s depression and whether it could be relieved. Patients facing psychological, social, or existential concerns deserve compassion in the form of reassurance, social support, and practical solutions to address feeling like a burden on others. Needing connection and validation throughout our life–and especially at our most vulnerable when we require assistance from others–translates to knowing that we are meaningful and loved.

Dr. Herbert Hendin and Dr. Kathleen Foley perhaps framed it best: patients desperately need relief from mental and physical distress, and without such relief, they would rather die. Relieving patients’ distress requires enabling and supporting a medical system and standard of care that permits physicians the time and reimbursement to address patient desperation and ambivalence and to offer solutions and referrals to competent providers.

Because of the construction of Hawaii’s law, we are unlikely to know how physicians counsel patients on alternatives and screen patients’ decision-making ability. As in Oregon, the Hawaii State Department of Health will collect limited records, which are confidential and not legally discoverable. While this protects patient privacy, the lack of transparency undermines any claims refuting abuse: we simply cannot know the content of these conversations. We do have access to a select few private medical conversations published in the media, which prompted critics to assert that limited recordkeeping enables patients to go physician-shopping and have brief pro forma discussions.

As a society, we should be skeptical of a practice that arose from lobbying and relies on politicized language to fundamentally alter the physician’s traditional role and the standard of care. I posit Hawaii’s “rigorous safeguards” constitute hollow promises.

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