GAO Gives Congress a Poor Report on Direct-to-Consumer Genetic Tests Sold by Web-Based Companies
According to the Wall Street Journal, Direct-to-consumer (DTC) genetic tests from the four companies 23andMe, Navigenics, deCODE genetics, and Pathway Genomics Corp, are generating results “that are misleading and of little or no practical use.” This was the finding of the U.S. General Accounting Office (GAO) in its recently released report.
Pathologists and clinical laboratory managers will be interested to know that the GAO sent multiple specimens to these four companies—each of which is organized to sell genetic tests and molecular diagnostics directly to consumers via the Internet. The GAO determined that, even when given identical DNA samples, the tests from these four companies yielded contradictory results. (more…)
Prometheus Laboratories targets millions of individuals with undiagnosed celiac disease
Direct-to-consumer (DTC) testing for celiac disease is now a reality. One company is now marketing a saliva-based genetic test that allows a patient to request, administer, and check the results of the test without leaving his or her home!
The market for this test is substantial. According to the National Digestive Diseases Clearinghouse’s web site, more than two million people in the United States have the disease, or about one in 133 people. A significant number of these individuals are undiagnosed or misdiagnosed celiac victims, which is why a DTC test may prove to be a marketplace winner.
Government agencies in both the United States and the United Kingdom look at direct-to-consumer (DTC) tests
Direct-to-Consumer (DTC) medical tests are under attack by multiple federal agencies here in the United States, even as authorities in the United Kingdom (UK) similarly question the potential of these genetic tests and molecular diagnostic assays to harm and/or mislead consumers.
Of course, many pathologists and clinical laboratory managers here in the United States know that multiple government agencies have spent the last year scrutinizing the DTC market. There is the possibility that new regulations and laws enacted as a result of these investigations could not only bring DTC genetic testing under tighter government oversight, but these same regulations might also ensnare certain genetic tests and medical laboratory assays that have appropriate uses in clinical care.
Regulatory agencies in UK and US have yet to address dangers inherent in customer misunderstanding of DTC medical laboratory genetic test results
Direct-to-consumer (DTC) medical laboratory genetic tests are gaining popularity across the globe. But recent research out of the United Kingdom questions the reliability of these tests. The study, according to The Guardian, found that “Over the counter genetic tests in the UK that assess the risk of cancer or heart problems fail to identify 89% of those in danger of getting killer diseases.”
According the PGS website, “each PGS in the catalog is consistently annotated with relevant metadata; including scoring files (variants, effect alleles/weights), annotations of how the PGS was developed and applied, and evaluations of their predictive performance.”
However, the researchers told The Guardian, “Polygenic risk scores performed poorly in population screening, individual risk prediction, and population risk stratification. Strong claims about the effect of polygenic risk scores on healthcare seem to be disproportionate to their performance.”
“Strong claims have been made about the potential of polygenic risk scores in medicine, but our study shows that this is not justified,” Aroon Hingorani, PhD (above), Professor of Genetic Epidemiology at UCL and lead author of the study, told The Guardian. “We found that, when held to the same standards as employed for other tests in medicine, polygenic risk scores performed poorly for prediction and screening across a range of common diseases.” Consumer misunderstanding of DTC medical laboratory genetic tests is a real danger. (Photo copyright: University College London.)
Polygenic Scores Not Beneficial to Cancer Screening
To complete their study, the UCL researchers compared PGS genetic risk data to conventional clinical laboratory testing methods and discovered some troubling results. They include:
On average, only 11% of individuals who developed a disease had been identified by the tests.
A 5% false positive rate where people were informed that they would get a disease within 10 years but did not.
PGS only identified 10% of people who later developed breast cancer.
The researchers state in their BMJ Medicine paper that polygenic risk scores are not the same as testing for certain gene mutations, which could be critical in screening for some cancers. They also wrote that discovering genetic variants associated with the risk for disease is still crucial for drug development.
“It has been suggested that polygenic risk scores could be introduced early on to help prevent breast cancer and heart disease but, in the examples we looked at, we found that the scores contributed little, if any, health benefit while adding cost and complexity,” research physician and epidemiologist Sir Nicholas Wald, FRS, FRCP, FMedSci, Professor of Preventive Medicine at UCL Institute of Health Informatics and co-author of the study, told the Jersey Evening Post.
“Our results build on evidence that indicates that polygenic risk scores do not have a role in public health screening programs,” Wald added.
“This research study rightly highlights that for many health conditions genetic risk scores alone may have limited usefulness, because other factors such as deprivation, lifestyles, and environment are also important,” clinical epidemiologist Raghib Ali, MD, CEO, Chief Investigator and Chief Medical Officer, Our Future Health UK, told The Guardian.
Our Future Health is a collaboration between public, non-profit, and private sectors to create the UK’s largest health research program. The researchers in this endeavor intend to recruit over five million volunteers and use polygenic risk scores to develop innovative ways to prevent, detect, and treat disease. This program is funded by the UK’s National Health System (NHS).
“[Our] research program will be developing integrated risk scores that will take in all the important risk factors,” Ali explained. “We hope these integrated risk scores can identify people more likely to develop diseases, but this is a relatively new area of science and there are still unanswered questions around it.”
Danger of Misunderstanding DTC Genetic Tests
Here in the US, there have been news stories in recent years about the unreliability of certain genetic tests. Dark Daily covered these stories in previous ebriefs. News stories about the unreliability of genetic tests, particularly those marketed directly to consumers, reveal the problems that existing regulatory schemes have yet to address.
In “Consumer Reports Identifies ‘Potential Pitfalls’ of Direct-to-Consumer Genetic Tests,” we covered CR’s findings that though clinical laboratory and pathology professionals understand the difference between a doctor-ordered genetic health risk (GHR) test and a direct-to-consumer (DTC) genetic test, the typical genetic test customer may not. And that, misunderstanding the results of a DTC at-home genetic test can lead to confusion, loss of privacy, and potential harm.
Scientific American also covered the dangers of DTC testing in “The Problem with Direct-to-Consumer Genetic Tests,” in which the author notes that “despite caveats in ads and on packages, users can fail to understand their limitations,” and that “consumer-grade products are easily misconstrued as appropriate medical tests and create false reassurances in patients who could be at legitimate risk.”
Most clinical laboratory managers and pathologists are probably not surprised that the research performed at UCL shows that there are still issues surrounding genetic tests, particularly those marketed directly to consumers. While direct-to-consumer DNA tests can have some benefits, at this time, they are not always the best option for individuals seeking information about their personal risk for hereditary diseases.
As clinical laboratory self-testing expands, sharing of test results with healthcare providers becomes even more essential to optimize health outcomes
Survey data collected by the University of Michigan’s Institute for Healthcare Policy and Innovation (IHPI) indicates that consumer interest in direct-to-consumer (DTC) medical self-testing is growing. In fact, DTC testing appears to be more popular ever, even among older adults who were asked how they feel about performing clinical laboratory self-testing and specimen collecting for certain illnesses.
According Michigan Medicine’s MHealth Lab, “82% of older adults say that in the future, they would be somewhat or very interested in taking a medical test at home.”
Dark Daily has written regularly about this trend and how leaders need a strategy to serve this class of consumer. That strategy could include collecting the self-test results from consumers and keeping a complete record of consumers’ clinical laboratory test results from inpatient, outpatient, and self-test settings.
“As more companies bring these direct-to-consumer [medical] tests to market and buy ads promoting them, it’s important for healthcare providers and policymakers to understand what patients might be purchasing, what they’re doing with the results, and how that fits into the broader clinical and regulatory picture,” said research scientist Jeffrey Kullgren, MD (above), Associate Professor of Internal Medicine and Health Management and Policy at the University of Michigan in a press release. Clinical laboratories may find opportunities to support patients’ self-testing in tandem with the physicians who treat them. (Photo copyright: University of Michigan.)
Importance of Sharing Clinical Laboratory Self-Test Results
Individuals responding to the poll were asked only about medical laboratory self-tests they had purchased themselves either online or at a retail store. Tests provided to respondents by a healthcare provider or given to them for free were not part of the survey.
The researchers discovered that 48% of respondents had purchased at least one variety of at-home health tests in the past. The types of tests bought included:
Tests for infections other than COVID-19, such as urinary tract infections or HIV (4%), and
Other types of at-home tests, including those for allergies and food sensitivities (10%).
Approximately 82% of the respondents said they would be somewhat or very interested in taking at-home medical tests and nine out of 10 believed the test results should be shared with their doctors. But only 55% of respondents who had taken an at-home medical test and received positive results for infection other than COVID-19 had shared those results with their primary care physician.
However, 90% of respondents who had purchased a self-test for cancer screening did provide their doctors with the results.
“As we have seen in COVID-19, it’s important to share results from a home test with a provider so that it can be used to guide your care and be counted in official statistics,” said Jeffrey Kullgren, MD, Associate Professor of Internal Medicine and Health Management and Policy at the University of Michigan in an IHPI press release. Kullgren, a primary care physician and healthcare researcher at Michigan Medicine and the VA Ann Arbor Healthcare System, directed the IHPI poll.
Not All Medical Self-Tests Are Regulated by the FDA
The most prominent reason for wanting to use at-home tests was convenience and 59% of those surveyed felt that the results could be trusted.
The poll also found that 53% of older adults believe at-home medical tests are regulated by the federal government, which isn’t always the case. Many at-home medical tests are reviewed by the federal US Food and Drug Administration (FDA), but not all such tests receive full FDA review.
The FDA, however, offers an online, searchable database consumers can use to determine if a certain over-the-counter test is regulated by the FDA.
“Home tests can be a convenient way for older adults to check if they have an illness, such as COVID-19” stated Indira Venkat, Senior Vice President, AARP Research in the press release. “But consumers should make sure they know whether the test they are taking is FDA-approved, and how their health or genetic information might be shared.”
Other interesting outcomes of the research include:
The purchasing of at-home COVID-19 tests was highest among those between the ages of 50 and 64 when compared to the 65 to 80 age group, but there were no age differences for other types of at-home tests.
Respondents who are married or have who more education and/or higher household incomes were more likely to have purchased at-home tests.
Blacks were less likely to buy at-home medical tests than Whites or Hispanics.
Interest for at-home tests was higher among women than men.
Advertising swayed 44% of purchasing respondents to buy a DNA test and 11% to buy a cancer screening test.
Are DTC Home Tests as Accurate as Clinical Laboratory Testing?
At-home medical self-testing and sample collection is becoming accepted and established with consumers and the medical community, which is drawing attention to the accuracy of these tests and how clinical laboratories are being affected by the trend.
The findings of this recent survey of older consumers is just the latest evidence that at-home self-testing for everything from COVID to cancer is here to stay. Clinical laboratories should be looking for ways to serve this patient population and the physicians who treat them.
