Direct-to-Consumer Genetic Testing: What Patients and Providers Should Know

September 2020 Vol 11, No 9

How can navigators expand their current role to meet the ever-growing needs of patients undergoing genetic testing? At the AONN+ 2020 Virtual Midyear Conference, Kelly Owens, PhD, Marleah Dean Kruzel, PhD, and Jennifer Klemp, PhD, pondered this question in a discussion on the critical role of the navigator in educating oncology patients about direct-to-consumer (DTC) genetic testing, took a deep dive into some of the important distinctions between what is reported by medical journals and what is reported by the media, and explained how these often contradictory sources of information can potentially impact patients.

The navigator is often the first point of care for a patient with cancer and can be the first provider asked about genetic testing. So, navigators should be prepared to collect and assess a patient’s personal and family history and to identify patients who meet professional organizational guidelines for testing. The guidelines from organizations like the Commission on Cancer and the National Comprehensive Cancer Network change rapidly, so navigators should stay abreast of these changes, according to Dr Klemp, from the University of Kansas Medical Center.

“Even more so now, testing is being used for shared decision-making to guide therapeutic decisions,” she said, pointing out the need for enhancing cancer genetic education and risk assessment, evolving existing pathways, referring patients to genetic experts and counselors, and supporting cascade testing for at-risk families.

Challenges with Broad and Narrow DTC Testing

According to the FDA, in vitro diagnostics that are marketed directly to consumers without the involvement of a healthcare provider are called direct-to-consumer tests, also referred to as DTC tests (eg, 23andMe). DTC genetic testing is now commonplace, but that does not mean it is widely understood.

Broad DTC tests can be confusing and stressful without adequate genetic counseling, and the possible outcomes can bring up different issues. For example, pathogenic/likely pathogenic mutations are not typically followed up with sufficient discussion to ensure patients understand the information they have been given, and when it comes to variants of uncertain significance, “the name says it all,” according to Dr Owens, from Facing Our Risk of Cancer Empowered (FORCE).

“We’re uncertain about the impact of these mutations on outcomes, and that leads to anxiety and confusion,” she said. “Another issue that’s not addressed terribly well is that not all mutations are the same. Some mutations lead to a very high risk of breast or ovarian cancer, while other mutations are fairly modest in terms of change in risk and may not change treatment or screening plans at all.” Meanwhile, when no mutation is found, people may walk away with a false sense of assurance in terms of whether they have a mutation, as well as what kind of follow-up they might need.

Conversely, narrow DTC tests provide limited information. For example, 23andMe BRCA1/BRCA2 testing looks at 3 mutations in BRCA genes common in Jewish people. This type of testing does not use DNA sequencing technology (the current standard), so any mutation found will require confirmatory retesting.

One of the main problems with these test results is the fact that the data quality is too low to impact healthcare decision-making. “These results are not medically actionable, so they have to be retested anyway,” she noted. “This is something many people in the general public are not aware of.” False-positives are also common with these tests, and a lack of or insufficient genetic counseling about what to do with this information only compounds these issues.

When no mutation is found with narrow DTC testing, individuals are left with a particularly false sense of reassurance. “With 23andMe BRCA1/BRCA2 testing, only 3 mutations in these 2 genes are being tested out of thousands, and other genes associated with breast cancer are not being tested at all,” she said. “People may walk away thinking they don’t have a mutation, when in reality they do. False-positives occur often, but false-negatives, and a false sense of security, are potentially more concerning.”

FORCE and the XRAY Program

The mission of FORCE is to improve the lives of people and families affected by hereditary cancer. Research articles are full of technical jargon and are often quite inaccessible to patients and the general public. On the other hand, media coverage surrounding these studies is accessible and easy to read, but it is often unreliable and sensational in presenting the same information.

“We wanted to directly address this issue of information coming in from a lot of different sources that can be confusing or misleading,” Dr Owens explained. “To do that, together with the CDC, we started the XRAY (EXamining the Relevance of Articles for You) program—which provides information on scientific studies and the media surrounding those studies—to try to ‘un-confuse the news.’”

The XRAY program aims to “look behind the headlines of cancer news” to help patients understand what the research really means on a personal level. To date, nearly 200 article reviews have been posted focused on young women with or at a high risk of breast cancer.

Each XRAY review rates the clinical relevance and scientific strength of a study and summarizes its content in plain language. It also clarifies the key findings of the study, tells patients why the research matters, and offers some follow-up questions that they can ask their providers (eg, Should I see a genetics expert to help me better understand my genetics test results?). Each summary also links readers to openly enrolling clinical trials specific to that particular XRAY review, provides a look back at the media coverage associated with each study, and rates the accuracy of that coverage with links to details on how each article was rated.

Tips for Communicating with Patients

According to Dr Klemp, navigators should familiarize themselves with the intricacies of DTC testing, as all signs only point to its expansion, particularly into defining genetic risk for other malignancies, such as colorectal cancer. “DTC testing is not going away anytime soon,” she said. “So, this will be something we’ll grapple with for a while.”

According to Dr Kruzel, of the University of South Florida, patients can learn to evaluate the health information they find online by asking themselves certain questions:

  • What is the source of the health information (.gov/.edu/.org)?
  • Who evaluated the health material before it was posted online?
  • When was the material last updated?
  • Are there exaggerated statements?
  • Are outside experts quoted?
  • Is context for the issue provided?

Sharing this list of questions with patients in the form of a handout can also be helpful.

“And if you have time in a consult, do a practice Internet search with your patient,” she added. “Conduct a search, and then walk through these specific questions, as it can teach them how to effectively evaluate digital health information.”

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Last modified: August 10, 2023

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