American Association for Clinical Chemistry
Better health through laboratory medicine
March 2008 Clinical Laboratory News: The Outlook on Home, Direct Access Testing

March 2008: Volume 34, Number 3

The Outlook on Home, Direct Access Testing
Are Consumers Ready to Manage Their Health?

By Phil Kibak

At one time, the only medical testing device found in most homes was a thermometer. Since then, technological advances have resulted in the development of devices that have empowered consumers to become more active in their own healthcare. In the 1960s, home testing for glucose in urine was first introduced, and in 1978, the first home pregnancy kits appeared on drug store shelves. Today consumers can purchase home health kits that allow them to monitor their cholesterol levels or to collect a blood sample to send to a reference lab to test for HIV , while access to the World Wide Web permits individuals to purchase laboratory services that can uncover their genetic profiles, risk for cancer, and other conditions. In the near future, diagnostic manufacturers and laboratorians predict advances will offer even greater opportunities for individuals to manage their own health.

“In the next few years, new self-diagnostic technologies that allow people to screen for or manage conditions such as asthma, allergies, or congestive heart failure could see this $7 billion global market rapidly expand,” said Simon Burnell, Head of Medical Diagnostics for Cambridge Consultants (Cambridge, Mass.), which recently convened workshops in the U.S. and Europe titled “The future of diagnostics: A consumer-driven world?” “We will likely see a change in the actual consumer targeted by the diagnostics industry, from the existing professional segments to also include the general public. As technological improvements make tests simpler and reduce the likelihood of patient error, the number of diagnostic tests designated for home use or covered by CLIA waiver regulations is likely to expand, and with it the range of tests accessible to the public.”

But home tests must be reliable and give accurate results so people using them can access appropriate medical treatment. The 15 participants who attended the October 2007 workshop on the U.S. perspective—representatives of industry, research, and academia—agreed that consumer diagnostic tests must compare favorably with existing laboratory or point-of-care tests. “The sensitivity and specificity of the test will obviously be vital in life-critical, screening tests, such as those for HIV or cancer markers, where false-negative or false-positive results can have serious consequences,” Burnell wrote in a report on the U.S. workshop. He added that companies also need to add value by building on the test result, perhaps by connecting to online databases and recording a patient’s health information for tracking purposes and giving guidance on behavior modification.

The Scope of Consumer Diagnostics

Consumer diagnostics covers a spectrum of possibilities from instrumentation a person uses in the home, such as a glucometer and accompanying test strips, to collecting a blood or saliva sample and mailing that to a reference laboratory for analysis. Another way individuals can become more active in their own health is through direct-access testing (DAT)—also known as direct-to-consumer (DTC) testing—in which the consumer initiates and obtains laboratory services without consulting a physician. The individual can contact a company via the Internet and then visit a patient service center to have blood drawn and the testing process begun. The results are then sent directly to the consumer.

Better educated consumers with access to increasingly sophisticated health information are driving this market. “It used to be that if you walked into a room wearing a white lab coat you could pretty much say anything, and people wouldn’t question you,” noted Robert Christenson, PhD, Professor of Pathology and Medical and Research Technology, and Director, Clinical Chemistry Laboratories at the University of Maryland Medical School (Baltimore) and a participant in the workshop put on by Cambridge Consultants. “Now, it’s appropriately different. People ask questions—where did you train? How many of these procedures have you performed? Are you board-certified? And we encourage them to do this so they can make more informed decisions.”

 March 2008 CLN Cover Story Image

Drivers of Self Management

The advent of advocacy groups, the Internet, and DTC marketing by pharmaceutical companies and medical device manufacturers has helped to increase health awareness among consumers, empowering them to challenge their physicians. This trend toward self-management is most prevalent in baby boomers, who now are starting to retire. Members of this large and often vocal population are interested in taking charge of their own healthcare and many use the Internet to search for information on health topics.

A 2006 report from the Pew Internet & American Life Project emphasizes the Internet’s role in patients’ increasing desire to actively participate in their own healthcare, as well as the dangers this trend presents. The report states that 80% of American Internet users, or some 113 million American adults, have searched for information on at least one of 17 health topics. But the downside, according to the report, is that fully 75% of these health information seekers say they check the source and date of the information they find “only sometimes,” “hardly ever,” or “never,” which translates to 85 million Americans gathering health advice online without consistently verifying the quality of the information they find.

A growing number of diagnostics companies are pinning their hopes on the baby boomers. “I see the consumer diagnostics market expanding, especially in the immediate future primarily for this reason. The market also will increase due to the quality of the kits that are available, as well as the breadth of the menu of tests that become available,” predicted Jack Maggiore, PhD, President and Chief Scientific Officer of Biosafe Laboratories (Chicago, Ill.), which develops tests that are designed to analyze consumer-collected samples.

Another factor that may drive development of home health testing in the U.S. market is the widespread lack of health insurance. According to figures released in 2007 by the U.S. Census Bureau, more than 46 million Americans lack health insurance. DTC marketing of laboratory services may be a way for these individuals to get necessary health information without spending additional money and time to visit a physician or clinic. Access to home testing also would be a first step toward addressing the current practices physicians employ, especially those in healthcare delivery that involve the ongoing treatment of long-term manageable conditions, noted Burnell in the workshop report.

But many of those who lack health insurance don’t have resources for anything other than basic necessities. “A sizeable number of those who are uninsured live a true hand-to-mouth existence and may not have the funds to access anything other than emergency care,” said Dianne Bartels, RN, PhD, Associate Director and Assistant Professor at the Center for Bioethics at the University of Minnesota Medical School (Minneapolis, Minn.). “Even for prenatal genetic testing, the general profile of the voluntary patient is a white, wealthy professional.”

Insurers are also attempting to shift some health care costs to consumers. “Cost is a driving force behind this, even for people who have health insurance,” said Bruce Friedman, MD, Active Emeritus Professor of Pathology at the University of Michigan Medical School (Ann Arbor, Mich.). “Insurance copays are rising and in many instances, the cost for DAT is less than a copay for tests ordered by a physician for a patient in his office. You can go to a Web site and order 20 or more sophisticated lab tests for a total out-of-pocket cost of about $45. And the labs performing these tests are the same commercial reference labs that receive samples from the physician’s office. In addition, results often are returned directly to the patient within 48 hours.”


Glucose Monitoring Devices Are Most Popular

Most OTC tests regulated by the FDA involve glucose monitoring and pregnancy. OTC tests for drugs of abuse also are popular.

Test category
Number of records in OTC database
Glucose monitoring devices+
Drugs of Abuse^
Fecal occult blood

+ Cleared for home use.

* Includes urine hCG by visual color comparison tests, ovulation test (LH) by visual color comparison, FSH, and hCG urine.

^ Includes cannabinoids, amphetamines, and opiates.

Source: FDA Web site

Which Tests Can Go Home?

Consumers who need to monitor diagnosed medical conditions are driving expansion of the home testing market, Christenson noted. He thinks home testing can offer people the necessary tools and information they need to make lifestyle adjustments in the face of chronic diseases. This model would include working together with the individual’s health care professional, but with important test results in hand.

Patients on anticoagulation therapy are one group that has already benefitted from expansion of home testing. Results of a 2006 study showed that patients on long-term anticoagulation therapy can safely monitor their coagulation status. Dean Regier, PhD, and his colleagues at the Vancouver Coastal Health Research Institute and the University of British Columbia reported that self-management of coagulation status is a safe and cost-effective option for a patient population within the Canadian health system taking warfarin for a mechanical heart valve or atrial fibrillation (Canadian Medical Association Journal 2006; 174(13):1847–52). “It has been found that patients who self-manage their INR more frequently are able to maintain a greater proportion of INRs within the therapeutic range, compared with those whose therapy is monitored by a physician or in an anticoagulation clinic,” the scientists wrote. The researchers compared the costs and quality-adjusted life years attributable to either self-management or physician management of coagulation in these patients over a period of 5 years. They found that over this time, self-management resulted in 3.5 fewer thrombotic events per 100 patients, 0.78 fewer major hemorrhagic events, and 0.12 fewer deaths than if the patients’ INRs were managed entirely by physicians. Although the mean per-patient cost of self-monitoring over 5 years was higher in the self-management group at $6,116 (95% CI, $5,426–$6,380) compared with the physician-managed group at $5,127 (95% CI, $4,390–$5,894), the cost-effectiveness of self-management was $14,129 per quality-adjusted life years gained (all figures in Canadian dollars).

Because it is a significant health problem, heart failure is another condition that may be attractive for the home diagnostic test market. According to the American Heart Association, about 5.3 million Americans suffer from heart failure, which is the most common reason for hospitalization among older adults. The estimated direct and indirect cost of this disease in the U.S. for 2008 is $34.8 billion. The diagnosis of heart failure is made on the basis of clinical presentation, electrocardiographic (ECG) and echocardiographic data, and serum biomarkers such as B-type natriuretic peptide (BNP) and NT-proBNP. Although POC tests exist that can help physicians assess heart failure at the patient’s bedside and in the office, as of yet there is no test for the home testing market.

As consumers start to take more control of their own testing, laboratorians might worry about how this trend affects their labs’ volume of testing. But Maggiore sees a positive side to home testing. “The consumer diagnostics market really is an opportunity for clinical laboratories, rather than a threat,” he said, using one of his company’s products as an example. “One of our latest products is the Diabetes Risk Assessment, which offers the convenience of an immediate blood glucose determination that can be done by the individual, and a followup HbA1c as a confirmatory test that’s done in the lab.”

A Sampling of Over-the-Counter Tests

Today, consumers can pick up a variety of home tests at their local drug store or supermarket, ranging from tests that monitor total cholesterol levels to tests that assess fertility and tests that can determine HIV status. Here, Kent Lewandrowski, MD, Chair of AACC’s Critical and Point-of-Care Testing Division, gives his opinions on three over-the-counter diagnostic tests.

CholesTrak (Accutech, Vista, Calif.)—This test provides the consumer with his or her total cholesterol level. It does not, however, give LDL and HDL, and these values are important for risk assessment. “It’s a fairly harmless technology if performed correctly, but it could give incorrect results if the patient does not properly follow the directions,” Lewandrowski said. Retail price: $17.99.

Fertell Couples Fertility Test (Genosis, Inc., Needham, Mass.)—This test checks sperm motility and measures FSH, both of which are part of an overall fertility assessment, but certainly not the whole story. “This test would not do anyone any harm and it has a certain appeal for couples; however, if a couple cannot conceive, it’s very likely they will make their way to a fertility specialist anyway,” he noted. Retail price: $99.99.

HIV-1 Test System and HIV-1 Express Test Kit (Home Access Health Corp., Hoffman Estates, Ill.)—These kits involve placing a drop of blood on a device, mailing it to a reference lab, and then confidentially receiving the results. “In concept, this test and others like it are useful because there may be many people who might wish to be tested for HIV but don’t want to go to their own physician or a health clinic,” Lewandrowski said. “However, there may be challenges for any test that depends on people obtaining a sample of their own blood:they have to be able to collect the sample properly.” Retail price: $43.99 for the HIV-1 Test System and $59.99 for the HIV-1 Express Test Kit.

Prices from or

DAT: Advantages and Disadvantages

Participants in the Cambridge Consultants’ workshop agreed that DAT is likely to bring its own challenges. With DAT, consumers can take advantage of cost savings, convenience, improved privacy, and greater control. But disadvantages include potential misinterpretation of test results by the patient, potential lack of confidentiality, lack of proper follow-up in cases where treatment or other action is important or even required by law (such as government notification), and possibility of fraudulent or incompetent testing. There are no federal regulations that impede this growing trend of consumers ordering their own tests. Purchasing of lab tests and regulatory initiatives are left to the states. Currently, 25 states and the District of Columbia allow DAT, 10 states impose limits on DAT, and 13 ban it outright.

Maggiore believes the lack of federal regulation is a drawback, an idea he thinks people would be surprised to hear from the president of a diagnostics company that specializes in self-collected samples. “The federal government has turned this over to the states, but I think this needs a single point of regulation,” he said. “The FDA determines whether a test is safe and reliable, but the states determine which tests should be available to their constituents. This has the potential to spiral out of control unless there is greater oversight.”

Friedman believes DAT will see much more growth than the home diagnostics market. “I think the scientific and technical barriers are so high that I don’t see a large menu of tests evolving to the point where a consumer can perform it and get truly meaningful results. And I also think that the DAT market is so attractive that hospital-based labs will begin to offer it to the public in their own communities as part of their outreach marketing and educational activities.”

One high-profile arm of DAT is genetic testing. A variety of such tests exists, ranging from those that detect the presence of breast cancer alleles to others that find mutations linked to cystic fibrosis. Companies that perform DAT genetic testing offer easy accessibility and promise consumers privacy and confidentiality of test results. An obvious and potentially damaging risk of DAT genetic testing is the possible misinterpretation of the test results. Without professional guidance, such as that provided by a physician or genetic counselor, a consumer might adopt a false sense of security about their risk of developing a certain disease or condition, or become unnecessarily concerned, Bartels observed.

A recent advertising campaign highlighted these problems. In September 2007, Myriad Genetics, Inc. (Salt Lake City, Utah) announced what it called a comprehensive public awareness advertising campaign highlighting its genetic test for the BRCA1 and BRAC2 genes for hereditary breast and ovarian cancer. The $3,100 test detects mutations in these genes that predispose individuals to develop these diseases; however, only about 7–10% of breast cancer is considered hereditary. The company discontinued its campaign after it drew criticism and prompted an investigation by Connecticut’s attorney general’s office.

In November 2007, deCODE Genetics (Reykjavik, Iceland) and 23andme (Mountain View, Calif.) began offering consumers a chance to not only explore their own genomes, but to compare them with family members, friends, and other consumers who purchase the $1,000 tests. The entry of 23andme into the DAT marketplace gained national attention because one company that has a minority interest in the company is the Internet search firm Google (Mountain View, Calif.). One of the founders of Google, Sergey Brin, happens to be the husband of 23andme’s co-founder Anne Wocjicki. In news reports, Google spokesman Jon Murchison said his company’s $3.9 million investment will further its mission of organizing the world’s infor-mation.

“Another phenomenon in the DAT test arena is the very early detection of preclinical and presymptomatic disease,” said Friedman. “This goes beyond the susceptibility to disease by finding the subclinical presence of disease in its earliest stages by identifying biomarkers.” He points to a company called BioPhysical Corp. (Austin, Texas), to which he acts as a consultant and a member of its medical advisory board. “The company offers a $3,400, 250-biomarker test as well as smaller, less expensive biomarker panels. In the long run the company feels it will be much less expensive to detect disease in this way.” Many of the biomarkers in this panel are not routinely available in most hospital labs or even in esoteric reference labs, he added, so even if you ordered the entire set of biomarkers from an esoteric reference lab it would very likely cost much more than $3,400.

“What’s interesting about this is the economies of scale,” Friedman noted. “As this type of testing becomes more common, it will drive the cost down. GE and Siemens have recently spent about $17 billion buying in vitro diagnostic companies in efforts to combine medical imaging with this type of technology. It’s what GE calls the early health model and what Siemens calls full-service diagnostics or molecular medicine.” The blending of medical imaging, molecular diagnostics, and pathology is now being referred to as “integrated diagnostics.”

Misinterpretation: The Downside of Home Tests

Some laboratory directors worry, however, that home health testing may lead consumers in the wrong direction. “The arena of consumer diagnostics is appealing because it offers access to medical technology and resultant information to people who might otherwise not obtain what may be necessary tests, and there are a number of niches where these can be used to improve public health,” explained Kent Lewandrowski, MD, Associate Chief of Pathology and Director of Clinical Services (Anatomic and Clinical) at Massachusetts General Hospital (Boston, Mass.), and Chair of the AACC’s Critical and Point-of-Care Testing Division. “But the medical community has a duty to protect the public from fraudulent or poorly designed products.”

As an example, he cited a test that purportedly determined the presence of urinary tract infections. “This was a home test that assessed the presence of nitrites in urine but didn’t look for anything else,” Lewandrowski said. “Some of the microorganisms that cause these infections don’t produce nitrites, but there are other things to test for like leukocyte esterase or occult blood. Therefore, this test was potentially harmful because a negative result in this case didn’t necessarily mean that there was no infection. So, a person who used this test and got a negative response might have become complacent while the infection ascended up the urinary tract and became more threatening.”

The Danger of Self Diagnosis

While consumer diagnostic kits sold in drugstores or pharmacies have been cleared by the FDA, a growing number of home tests—many of which are available over the Internet—do not come with any guarantee of accuracy or sensitivity. Nor do they have a documented history of dependability. Using results of such tests could lead a consumer to misinterpret their health status and to not seek medical treatment when it is actually needed.

Those who rely on home health tests also miss out on pre- and post-test counseling by a healthcare professional, who can help evaluate any findings within the context of a person’s broader health. “If a company is going to market a medical testing product to the general population, I think it would be responsible of that company to provide legitimate information to educate its customers about what the results of that test mean and what its limitations are. I work mainly with genetic counselors and there are a number of ways in which genetic test results can be misinterpreted,” said Bartels. “You can try to explain a statistical probability but that may not be understood well even with the best counseling. However, it is frightening to imagine such instructions without surveillance by a health professional who could put the result in the context of the patient’s overall health status. Numbers alone are not good enough,” she concluded.

The Shifting Relationship

The shift in the relationship between patients and medical providers will continue to change the healthcare landscape as the ease of use and reliability of consumer self-diagnostic products advance. “New technologies are making these consumer testing devices easier to use, and the results more reliable,” said Burnell. “This is key for building consumer confidence, improving consumer compliance, and wide-scale acceptance of tests that are at the forefront of managing a host of healthcare issues facing our society.” He predicts that the diagnostics technology industry also may form new alliances with the pharmaceutical industry and retail and consumer products companies to reach this growing home healthcare market.