shutterstock_428983732-299604-editedPavankumar Anne, Sankalp Sethi and Matt Furlow co-authored this post with David Kriesman.

In oncology, we’re accustomed to “firsts” in the headlines—new discoveries, novel treatments and scientific breakthroughs offering hope to patients. Most newsworthy updates relate to emerging therapies, but on March 6, we saw a first in oncology diagnostic testing that has started making waves.

The FDA approved the first direct-to-consumer (DTC) genetic test to investigate a patient’s risk of breast and ovarian cancer. Following the FDA’s 2017 approvals for its genetic tests to determine patients’ predisposition for disease including Alzheimer’s, Celiac and Parkinson’s, personal genetics company 23andMe has secured FDA approval to market the “Personal Genome Service Genetic Health Risk (GHR) Report for BRCA1/BRCA2 (Selected Variants),” which looks at three BRCA1/BRCA2 mutations. Now some patients can use the test to try to determine their risk for breast and ovarian cancer without consulting a doctor or licensed genetic counselor.

Direct-to-consumer advertising in oncology isn’t new. In fact, DTC spending on oncology drugs has exploded recently, more than doubling in the past two years alone, according to ZS analysis of data from Kantar. While 23andMe’s FDA approval made headlines, it’s now one of several players jockeying for position in the DTC testing market in oncology and other therapy areas. Color Genomics markets BRCA and hereditary cancer tests directly to consumers, and Helix markets tests to inform hereditary risk of diabetes and cholesterol, just to name a few. The FDA has loosened regulation around DTC testing, paving the way for more entrants to come.

What we are witnessing is a potential turning point in precision medicine and the patient’s role in it. The reasons for optimism are obvious: Greater accessibility to testing could lead to earlier detection of cancer and, ultimately, more lives saved. While the increasing role of DTC biomarker testing certainly holds promise, it also introduces sizable risks to all those involved. Let’s read the fine print for some key stakeholders.

Patients and Advocacy Groups

DTC genetic testing offers some exciting benefits to patients. With easier (and in some cases less expensive) access to testing, there’s the potential for earlier detection of tumors, improving outcomes for patients and reducing the cost to the healthcare system. The 23andMe and Color Genomics tests are designed to be noninvasive as well, requiring only saliva samples, which further removes testing barriers.

However, there are some glaring limitations. The 23andMe test, for instance, only tests for three of potentially hundreds of variants of the BRCA mutation. These occur primarily among Ashkenazi Jewish women, who make up less than 2% of the female population in the U.S. with a BRCA mutation, according to the FDA. Moreover, the genetic test is indicative of risk, rather than definitive. While 23andMe documents these caveats carefully, there’s still a risk of patients misinterpreting the results. Consider the case of the “false negative”: A woman who unknowingly has ovarian cancer tests negative for BRCA at home and therefore delays or even potentially refuses to pay for the more comprehensive test recommended by her doctor, harming her long-term prognosis.

As the use of these tests becomes more widespread, patient advocacy groups will need to be ready for an influx of questions and minimize any risk of misinterpretation, emphasize the limitations of these tests, and reinforce the need for patients to consult with their HCPs or genetic counselors.


A more informed patient is a fantastic thing, but that does create some challenges for the healthcare provider. DTC promotion creates awareness, but it also means that patients will be coming into the office with more and more questions that doctors may not be ready for.

Recent DTC promotion for immuno-oncology drugs, like Keytruda and Opdivo, ushered in a wave of requests (and hope) that oncologists couldn’t always fulfill. This time, oncologists need to be ready, handling objections for more comprehensive tests and dealing with requests for specific targeted agents that the patient may or may not be eligible for.

Drug Manufacturers

There’s a risk for pharma companies that don’t act. Let’s go back to our earlier example of the “false negative.” A woman who delays her test becomes one fewer potential patient for a targeted agent, such as a PARP inhibitor. In a competitive market like BRCA+ ovarian cancer, multiple companies with PARP agents are competing over a small pool of patients that’s at risk of getting even smaller. They can’t afford to see declining testing rates.

Instead of being reactive, pharma companies should consider these four opportunities to engage much earlier in the consumer’s journey and move a step ahead of the trends that are playing out in the market.

1. “Micro”-market to patients. Target consumers who test positive for actionable mutations (like BRCA or other biomarkers). Consider partnering with companies like 23andMe to educate patients on the potential implications of test results and biomarkers.
2. Alleviate cost barriers to testing. Offer reimbursement to consumers or even pay fully, given the opportunity that it opens up vs. the relative cost.
3. Harness the data. Leverage rich testing and lab results data to help identify where there’s a high unmet need for potential treatments.
4. Educate HCPs. Equip physicians with information to address potential questions and objections from their patients related to genetic testing.

Of course, patients and advocacy groups, physicians and drugmakers aren’t the only stakeholders affected. Diagnostics companies, testing labs, genetic counselors and others are all likely to be impacted by the growing DTC testing trend. While it’s still early in the adoption and use of these tests, we urge each of these groups to be proactive and determine how best to respond to the sea change that DTC testing is bringing to the marketplace. 


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Topics: oncology, Patients, DTC, oncology manufacturer, FDA, providers, patient advocacy, biomarkers, DTC biomarker testing, 23andMe, genetic testing