The Lynx Group

Direct-to-Consumer Genetics/Genomics: A “New Paradigm” in Providing Healthcare Information

July/August 2010, Vol 1, No 3

San Diego, CA—A session at the 35th Annual ONS Congress happening the same week that Walgreens decided to postpone selling a direct-to-consumer (DTC) genetic test kit raised more questions than provided answers when it framed the discussion by asking whether these tests were “good, bad, or benign.” Even for an advanced audience such as this, the question may be premature: only one audience member had ever helped a patient decipher DTC genetic test results.

Presenters Patricia Kelly, RN, DNP, MS, a clinical education specialist/genomic consultant at Texas Health Resources in Dallas, and Jennifer Loud, RN, CRNP, DNP, assistant branch chief at the National Cancer Institute in Rockville, MD, analyzed a range of issues. Noting that DTC genetic testing represents “a new paradigm of how healthcare information is communicated to the public,” Dr Loud acknowledged that DTC testing may make many healthcare professionals uncomfortable because of the shift in power that it causes. “We are used to being in control and having patients come to us for advice and guidance,” she said, “this has the potential of flipping that on its head.” Despite nurses’ potential discomfort, however, the two advocated that the participants should develop the relevant genetic nursing competencies—such as providing patients with accurate genetic information, resources, and services to guide their decision making and to identify the myriad ethical, religious, cultural, and legal issues related to genetic testing.

Acing the Genetic Info Exam

Another question tackled by the team was how to determine the value of the information derived through DTC genetic testing. To aid nurses in this pursuit, Dr Kelly shared the ACCE model, which consists of criteria developed by the Centers for Disease Control and Prevention’s (CDC) Office of Public Health Genomics to help evaluate the roughly 1600 genetic tests currently in use (approximately 500 of these are DTC). The ACCE model’s 4 areas of investigation include examining the test’s:

  1. Analytic validity: how sensitive and specific the test is for picking up on the specific genetic mutation
  2. Clinical validity: how consistently and accurately the test predicts the disease or question of interest
  3. Clinical utility: how does the genetic test impact care and how significantly can it improve outcomes
  4. Ethical, legal, and social issues: how is privacy maintained with the test, how are the test results communicated, what happens to the sample after testing, etc.

In addition to nurses’ own test evaluations, Dr Kelly discussed DTC genetic testing’s formal process of quality assurance. Although the Federal Trade Commission oversees advertising, it has “played a fairly minor role” in looking at the promotion of DTC genetic testing to date, Dr Kelly noted, aside from publishing a 2006 consumer alert that advocated a “healthy dose of skepticism.” Three federal agencies—the CDC, the Centers for Medicare & Medicaid Services, and the US Food and Drug Administration—currently oversee the testing, and “states regulate [it] a great deal” (25 allow its use, 12 permit limited use, and 13 ban it). Providing possibly another safeguard, the National Institutes of Health in March announced the establishment of a voluntary genetic testing registry. The registry—which will include ACCE information—is expected to be up and running in 2011.

The session concluded with a critical thinking exercise on the potential benefits and risks of DTC genetic testing and how test information may impact patients. For example, they noted that for a young man who receives confirmation of harboring the prostate cancer mutation, this information may lead to unjustified anxiety and unnecessary screening—especially in light of the fact that studies have shown a thorough family history to be a better predictor of prostate cancer risk than the existence of the mutation. On the other hand, an older man who tests negative may feel a false reassurance and forego screening. According to both presenters, potential benefits of DTC genetic testing may be increased access to the tests, reduced risk of privacy violations, lowered costs due to competitive pricing, and empowered consumers who can change their lifestyles.

Although the presenters discussed many questions surrounding genetic testing that have yet to be answered, they did provide attendees with a strategy for approaching the issues. Quoting from a 2009 paper,1 Dr Kelly noted that healthcare professionals must find a balance—avoiding excessive paternalism and fear of change while stressing that genetic information not be used inappropriately or prematurely—in order to help patients “explore their genome with marvelous and exciting new tools at hand in a way that values medical experience and technological innovation.”

Reference

  1. Evans JP, Green RC. Direct to consumer genetic testing: avoiding a culture war. Genet Med. 2009;11: 568-569.

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