Pathologists likely to be surprised to learn that consumers reach objectively to the results of genetic tests

How consumers will react to the results of genetic tests is a subject of constant debate by many health policy wonks. This same debate has its counterpart in the clinical laboratory testing industry, as pathologists and PhDs discuss the pros and cons of allowing consumers to order their own predictive genetic tests and molecular diagnostic assays.

Rapid developments in whole human genome sequencing will soon make it affordable and fast for any consumer to run their entire genome and have the results analyzed and presented to them in a detailed, easy-to-understand manner. In practical terms, it means medical laboratories and anatomic pathology groups will need to be ready to respond to consumer demand for access to these tests.

(Sourced from the National Cancer Institute website—Slide two of the “Understanding Cancer Series: Genome-Wide Profiling.”)

(Sourced from the National Cancer Institute website—Slide two of the “Understanding Cancer Series: Genome-Wide Profiling.”)

For that reason, the results of a published study on how consumers responded to their genetic test results will be both enlightening and helpful. It may surprise some pathologists to learn that direct-to-consumer (DTC) genomewide testing might have little or no affect on the post-test mental or physical health, as well as the diet and exercise behavior, of genomewide profiling test subjects. That’s the conclusion of researchers from the Scripps Genomic Health Initiative (SGHI), a research study sponsored by Scripps Translational Science Institute (STSI).

The research group’s findings were published in the New England Journal of Medicine (NEJM) on February 10, 2011, as part of an article titled “Effect of Direct-to-Consumer Genomewide Profiling to Assess Disease Risk.”

The authors sought to determine what affect, if any, direct-to-consumer genomewide profiling might have on patients who undergo such genetic testing to ascertain their risk for acquiring certain diseases.

Direct-to-Consumer Genetic Tests Still Controversial

Direct-to-Consumer genetic testing is a growing industry. According to industry analyst Washington G-2 Reports, in 2008, the DTC lab test market, including at-home genetic testing, was “estimated at less than $100 million in annual revenue, compared to the total of $51.7 billion for the entire U.S. laboratory testing market.”

In 2010, some DTC genetic laboratory testing companies ran into trouble when the U.S. General Accounting Office (GAO) released a report—which Dark Daily covered in “Many Genetic Tests Offered to Consumers Over the Internet are Misleading and of No Practical Use”—and in which the GAO determined that the tests from four different DTC companies were generating results “that are misleading and of little or no practical use.”

Nevertheless, even with additional government oversight, the DTC test market in general, and the DTC genetic test market specifically, continue to flourish.

Scripps Study Shows Positive Results for DTC Genetic Testing

Navigenics, which offers genetic analysis services that attempt to determine a person’s pre-disposition toward certain chronic diseases, participated in the SGHI study. Of the 3,639 enrollees who purchased Navigenics’ Health Compass services, 2,037 participated through the follow-up exam.

“This is a ground-breaking step for the field of personal genomics,” noted Vance Vanier, M.D., CEO, and President of Navigenics in an article in Medical News Today. “The Scripps Genomic Health Initiative is the largest study of its kind, and the first in which researchers assessed an entire genomic profile on a large population for psychological effects. The study is even more far-reaching than others because it examines both the impact of lifestyle and medical screening behaviors.”

Aside from the aforementioned results, SGHI’s research also showed that the test subjects experienced no heightened states of anxiety after being given the results of the predictive genetic tests. There was also no increased anxiety or stress surrounding the process of taking a DTC genomewide tests and completing the follow-up exams where the results were presented and explained to the consumer. The Scripps researchers considered this to be an important finding.

“Our research showed no evidence whatsoever of [consumer] anxiety or psychological stress,” said Eric Topol, M.D., Director of Scripps Translational Science Institute, Chief Academic Officer of Scripps Health, and Professor of Translational Genomics of The Scripps Research Institute, and senior author of the study in the same article. “This is particularly significant because it is the first large body of data we have to allay concerns around consumer anxiety related to genetic risk assessment. Not only can consumers handle their personal genetic information, but they are getting genomically oriented and anchored about such data,” he concluded.

The DTC genetic testing market continues to grow, driven as much by consumer demand as by the rapidly falling cost of sophisticated genetic tests. Experts are still uncertain as to how this trend will develop. However, pathologists and clinical laboratory administrators regularly tell Dark Daily that their laboratory is fielding a growing number of requests from consumers interested in ordering their own genetic tests. That is an anecdotal sign that there is likely to be more consumer interest in predictive genetic testing in coming years, rather than less.

—Michael McBride

Related Information:

New England Journal Of Medicine Publishes Initial Data on Study Examining Impact of Personal Genomics

Effect of Direct-to-Consumer Genomewide Profiling to Assess Disease Risk: New England Journal of Medicine

Worried About Cholesterol? Order Your Own Tests

Direct-to-Consumer Testing and Its Impact on the Lab Market

Many Genetic Tests Offered to Consumers Over the Internet are Misleading and of No Practical Use

THE DARK REPORT: Whole Genome Sequencing: Is It Ready for Prime Time?