Make lifesaving cancer-risk genetic testing accessible to all Americans
A patient, Wendy Feuer, was diagnosed with advanced ovarian cancer at age 41. She had never suspected she was at risk, having led a healthy, active lifestyle. She also was adopted and knew nothing of her biological family history.
Diagnosis in hand, Feuer underwent radical surgery and chemotherapy. She also was tested for genetic cancer risk, which established that she carried a mutation in the BRCA1 gene that is highly associated with cancer. To be clear, such a genetic cancer-risk test is different from the popular ancestry and health profiling services marketed online today.
Over 10 years, Feuer suffered disease recurrences and participated in numerous clinical trials, getting cutting-edge (though experimental) treatments. Nevertheless, she died of her cancer without seeing her two sons graduate from high school or marry or start their own families.
At the time Feuer was diagnosed, cancer genetic testing was expensive and not widely available. Cancer genetic testing is now cheap, yet men and women continue to die of preventable hereditary cancers.
In the United States, clinical tests for hereditary cancer risk have been available for more than 25 years. Even so, patients typically undergo this family-risk screening after they receive a cancer diagnosis, rather than before.
For these patients, the testing’s upside can seem pitifully small — akin to a fire investigator discerning the cause of a blaze while walking through a charred structure. A genetic test can still inform the patient about the risk of a second cancer, and might influence their course of treatment, but at this juncture, the test’s bigger benefit is as a red flag for relatives.
The National Cancer Center Network and the U.S. Preventive Services Task Force have formal guidelines to identify patients for genetic testing based on their personal and family histories. But in the state of modern health care, these guidelines are failing.
Research studies have repeatedly shown that just 10% to 30% of patients who qualify for cancer genetic testing actually receive it.
This sad statement points to flaws in the systems of care provision for high-risk patients. For instance, to obtain a genetic cancer test, a patient must be declared eligible through family and/or personal history, and that history must then be recognized by a provider, who must order the test or provide a referral to a genetic specialist to do so. Obstacles abound.
Since 2013, when the Supreme Court disallowed the patenting of human genes, prices for testing have decreased, from more than $4,000 to assess two cancer-linked genes to less than $250 to assess more than 30 cancer-linked genes. Despite the exponential price drop, another powerful barrier remains: spotty insurance coverage of genetic testing.
A federal law protects against use of genetic information to discriminate in the workplace or for health insurance, but does not address other potential areas of discrimination. Yet, in the 25-plus years of commercial BRCA1/2 testing, there have been no such lawsuits in this country, suggesting that such discrimination, if it exists, is exceedingly rare.
We are missing the opportunity to provide potentially lifesaving information to millions of Americans. The best use of a cancer genetic test is to improve the health of at-risk individuals through early detection and prevention. Primary prevention should be our main goal.The only way to make that happen is to offer cancer-risk genetic testing to all adults, regardless of personal or family history. With that in mind, we are pursuing a new study funded by the National Cancer Institute. It will compare two methods of approaching primary-care patients to move them through the process of cancer-risk testing.
These two methods do not rely on patient request or provider memory to cue a conversation. Rather, they ask the patient to answer a simple family-history questionnaire. On the basis of their answers, they will be invited (or not) for genetic testing. One approach is with patients at their primary care clinic; the other approach is directly to patients through email or U.S. mail, with sample collection occurring in the privacy of their home.
We hope that findings from our study will set the stage for a more efficient, cost-saving system of providing genetic cancer testing to all men and women at age 30, regardless of personal or family history. Such tests should be easy to obtain and accompanied by a provider’s guidance, if requested, to create a care plan that fits the patient’s new information about cancer risk.
Our two methods of approach are not the only methods, but they simplify the process and connect it meaningfully to the ways people live and make decisions about their health. We will know better in a few years, thanks to this research grant. Right now, it’s important for health-care leaders, practitioners and patients to talk about cancer genetic testing and consider it mandatory for all adults at high risk.
Elizabeth M. Swisher is a professor of obstetrics and gynecology and an adjunct professor of medicine and medical genetics at the University of Washington School of Medicine.
Barbara S. Norquist is an assistant professor of obstetrics and gynecology at the University of Washington School of Medicine.
Deborah J. Bowen is a professor of bioethics and humanities at the University of Washington School of Medicine.