Oct 13, 2017 | Uncategorized
Media coverage of a recent Orig3n promotion-and intervention from state and federal officials-reveals the level of discomfort public and policymakers have for handling the publics’ protected health information, including genetic test data
Is it appropriate to offer free genetic tests to 70,000 fans attending a professional football game? Apparently not, say federal and state healthcare regulators who took steps to block a planned free genetic test giveaway that the Baltimore Ravens and clinical laboratory company Orig3n planned to conduct on Sunday, September 17.
Genetic testing has become a mainstay of clinical laboratories and pathology groups. And it can’t be denied that the growing popularity of self-administered genetic tests could have an impact on medical laboratories’ revenue. Additionally, there’s the issue of state and federal privacy laws in the handling of protected health information (PHI) as outlined by the Health Insurance Portability and Accountability Act (HIPAA) to consider. Thus, the news that a developer of genetic self-test kits planned to distribute hundreds of free tests at an NFL football game in Baltimore quickly garnered the attention of federal and state officials, as well as the national media.
Instead of handing out t-shirts, Orig3n, a developer of genetic self-tests kits based in Boston, planned to offer free DNA tests at the September home opening game of the Baltimore Ravens. However, the giveaway was not to be. The promotion attracted the attention of the Centers for Medicare and Medicaid Services (CMS), the Maryland Department of Health (MDH), and a range of media outlets. This led to postponing the event just days before it was scheduled to happen.
According to Forbes, the test promotion claimed to provide information on genetic markers related to vitamin D deficiency, skin aging, language ability, and muscle force.
However, news coverage in The Baltimore Sun of the cancellation of the free genetic test giveaway cited concerns from CMS officials about Clinical Laboratory Improvement Amendments of 1988 (CLIA) requirements.
Orig3n told Vice in 2016 that Food and Drug Administration (FDA) approval, and other typical genetic test requirements that apply to medical laboratories, weren’t needed because their tests are non-diagnostic. However, genetic testing often does require physician orders and lab approval in the state of Maryland.
Speaking with The Baltimore Sun, Kevin Byrne, Senior VP of Public and Community Relations for the Baltimore Ravens, stated, “[We are] working with the Maryland Department of Health. Orig3n is confident it can receive the proper approvals and plans to have a fan giveaway later this season at one of our games.”
Criticism of Direct-to-Consumer (DTC) Genetic Testing
In Forbes, journalist Rita Rubin noted, “I paid $99 for the 23andMe direct-to-consumer genetic testing service several years ago. Turns out 23andMe included at least one of the four genes covered by the test Orig3n plans to give out to Ravens fans.”
23andMe is also familiar with the regulatory hurdles of DTC genetic testing. As we reported in 2013, the company received letters from the FDA demanding they cease sale of their genetic tests. These letters were followed by a $5-million class-action law suit in California claiming the test results were “meaningless.” (See Dark Daily, “23andMe Socked with FDA Warning Letter and Class Action Lawsuit over Company’s Genetic Testing Services,” December 11, 2013.)
These concerns were echoed by Toni I. Pollin, PhD, Associate Professor at the University of Maryland School of Medicine. “There’s nothing in this that I think is a good idea,” she told The Baltimore Sun. “The tests they’re talking about doing are not going to be useful for a particular individual.”
The graph above, which is drawn from a Kalorama report on the current and future market for US Direct-to-Consumer (DTC) genetic testing, illustrates the meteoric increase in value of the DTC tests market. (Image copyright: MedCityNews/Kalorama.)
Modern Healthcare followed up on the 23andme story in 2016. Although the class-action suit eventually failed in the 9th US Circuit Court of Appeals, it took nearly two years for 23andMe to bring a portion of their tests to the market.
However, the coverage surrounding both events illustrate how wary government regulators might be to allow direct-to-consumer genetic testing to become a commonplace service. And how wary the public is to trust these new technologies and services with their protected health information.
Privacy Concerns and Media Backlash Still Common
In a September press release promoting the event, Orig3n states, “Orig3n is on a mission to advance the future of health. We believe that everyone should have direct, affordable access to their genetic information and reaching people with DNA tests on such a large scale is a natural and exciting way for us to demonstrate that.”
While Orig3n claims security is in place to protect sensitive genetic information, Bethesda, Maryland, attorney Bradley Shear and Peter Pitts, President of the Center for Medicine in the Public Interest (CMPI), both cited security concerns in the Baltimore Sun article.
The privacy and security concerns surrounding the collection and pooling of genomic and healthcare big data are not limited to the US. This trend continues to shape how innovative technologies grow and how systems and companies communicate data around the world.
A June ebriefing highlighted how even blinded data can be collated and compared to learn far more about a person or patient than a single dataset might suggest. (See Dark Daily, “Coverage of Alexion Investigation Highlights the Risk to Clinical Laboratories That Sell Blinded Medical Data,” June 21, 2017.)
Alexion (NASDAQ:ALXN), a pharmaceutical company specializing in orphan drugs, was shoved into the spotlight by Bloomberg Businessweek for aggressive marketing tactics in several countries around the world using blinded data to target patients and clinicians. The story also brought with it mentions of high-profile clinical laboratories and diagnostics providers—a potential PR nightmare for all involved.
Direct-to-consumer genetic tests offer opportunities for consumers to discover facets of their health and genetic backgrounds. However, the potential risks, security/privacy concerns, and the true value of test results continue to create hurdles for commercial service providers, as well as for pathologists and clinical laboratories.
Until public and regulatory scrutiny decreases, the value of the data gathered by these tests is determined, and standards are in place regarding security of customers’ protected health information, laboratories should remain vigilant and tread carefully when considering DTC testing as a viable opportunity to expand revenues.
—Jon Stone
Related Information:
‘DNA Day’ Planned for Ravens’ Game Undergoes Federal and State Scrutiny
Ravens Decide That Perhaps ‘DNA Day’ at M and T Bank Stadium Should Be Postponed
Orig3n Holds Inaugural Ravens DNA Day on September 17 at M and T Bank Stadium to Kick Off the Season
Beyond Bobbleheads: One NFL Team Wants to Offer Fans Free Genetic Testing
Biotech Company Offers Fitness and Beauty-focused Genetic Tests
Baltimore Ravens to Hand Out Free DNA Test Kits
Ravens Fans to Be Offered DNA Test Kits Sunday in Unusual NFL Promotion
Promotion Offering DNA Test Kits to Ravens Fans to Be Rescheduled
Football Team’s DNA Day Postponed
23andMe Socked with FDA Warning Letter and Class Action Lawsuit over Company’s Genetic Testing Services
23andme Escapes California Class Action for Arbitration
Coverage of Alexion Investigation Highlights the Risk to Clinical Laboratories That Sell Blinded Medical Data
Aug 16, 2017 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory News, Laboratory Operations, Laboratory Pathology
Undergoing genetic testing also can impact the cost and availability of life insurance in Australia, not just for the person who underwent the testing, but for their families as well
Concerns about direct-to-consumer genetic testing have led to stricter regulatory requirements for Clinical laboratories that perform genetic tests in Australia.
Starting in July 2017, medical laboratories that perform genetic testing must have accreditation by the National Association of Testing Authorities (NATA). And their tests must meet performance standards established by the National Pathology Accreditation Advisory Council. Manufacturers must also obtain a conformity assessment certificate from the Therapeutic Goods Administration, the organization that regulates medical devices, medicines, blood, and tissue in Australia.
According to the Australian Law Reform Commission (ALRC), there are currently 220 deoxyribonucleic acid (DNA) diagnostic tests available in Australia. There are 44 different laboratories located throughout the country that perform those tests. A database of the available tests and labs is maintained by the Human Genetics Society of Australasia (HGSA).
However, Australian citizens are not limited to just the tests and labs listed by the HGSA. Direct-to-consumer genetic testing kits, which are marketed through retail outlets, mail order, and the Internet, also can be used to obtain genetic information. However, receipt of genetic test results can be problematic and have negative consequences, say some experts.
Genetic Tests Can Cause Confusion; Affect Insurance
A recent paper, authored by researchers at Monash University, outlined apprehension about home genetic testing and how it can have a negative impact on people’s lives and insurance rates. The authors claim the tests can be misleading, noting concerns that the results are often interpreted by people who lack proper training. They cautioned that providers in other countries are not subject to the strict laws that govern genetic testing in Australia. Monash University is Australia’s largest university with facilities and campuses in Australia, Malaysia, South Africa, China, India, and Italy.
“In the age of individuality and consumer empowerment, some people want to take things into their own hands, but that’s not without its risks,” stated Ken Harvey, MBBS (Bachelor of Medicine, Bachelor of Surgery), in a Special Broadcast Service (SBS) article. Dr. Harvey is an FRCPA (Pathologist) and Associate Professor in the Department of Epidemiology and Preventive Medicine at Monash University, and one of the authors of the paper. “If you’re getting something over the internet it can be really difficult to assess whether that test has been accredited by a reputable independent authority.”
The chart above tracks the collective annual test volume of just three direct-to-consumer (DTC) providers of genetic test in the US. It illustrates the steep rise in DTC genetic test usage among US-based healthcare consumers. Clinical laboratories could chart a similar progression tracking the increase in DTC genetic testing they have performed in just the past few years. (Image copyright: University of Iowa Wiki.)
In addition, the results of home genetic tests have to be translated and explained to consumers by a medical professional, often a General Practitioner (GP), which, according to the Australian researchers, can lead to confusion.
“Though the results would go back to the GPs, many GPs really had no idea what to do with these results when they got them”, Harvey noted in the SBS article. “I’ve had GPs tell me one of their patients comes in clutching a handful of printouts about their genetic tests, and they say, ‘what am I meant to do with this?’”
Why Genetic Testing is Important
One person who understands the urge to try genetic testing is Heather Renton, Founder and President of Syndromes Without a Name (SWAN) Australia, a not-for-profit incorporated association and charity that works to increase awareness and understanding of the impact and prevalence of undiagnosed genetic conditions.
After being misdiagnosed multiple times, it was discovered that Renton’s daughter had the rare FOXP1 gene. Individuals with the FOXP1 genetic disorder have delayed speech and learning issues, sometimes with signs of autism. Symptoms of the condition include:
- Speech and learning disabilities;
- Immune system issues; and
- Behavioral abnormalities.
“People are sometimes so desperate for answers, [but] who’s to know that it’s credible—you might think you’ve got this gene and it might turn out that you don’t,” Renton stated in the SBS article.
“You might have a gene susceptible to breast cancer the older you get, but as a 20-year-old you have no idea you’ve got that,” she continued. “Life’s a lottery game.”
Why Genetic Testing Can Cause Problems
Nevertheless, some individuals may not welcome the results that genetic testing could reveal.
“If you get one of these batteries of genetic tests, the implication is these are genetic conditions that can be inherited; the results are not just important or significant to you, but to your family members, your children, etc.,” Harvey stressed. “The implications go beyond a particular person—and not everyone wants to know.”
“For some families, it’s been life shattering to find out they’ve actually passed this condition on to their child, and they carry this guilt,” Renton added.
Genetic Test Results Can Affect Insurance Premiums/Availability
Results of genetic tests also could affect the costs and availability of life insurance policies in Australia that went into effect after July.
Under the Insurance Contracts Act, Australians applying for life insurance are required to disclose:
- Their medical history;
- Information about the health of first degree relatives (parents, siblings, and children); and
- The known results of any genetic testing.
Life insurance policies in Australia are guaranteed renewable. This means consumers do not have to inform insurers of changes in their medical conditions after policies have been issued. It is forbidden for insurers to demand that consumers have any genetic testing performed. However, if a consumer has had a genetic test performed and knows the results before the policy is issued, those results must be divulged to the insurer. That information can then be used to determine policy rates or deny coverage.
Could This Happen In the US?
In the United States, some genetic testing is regulated by the Food and Drug Administration (FDA) under the processes that oversee medical devices. The FDA has proposed regulating laboratory-developed tests (LDTs), which would bring more genetic testing under the agency’s scrutiny. As direct-to-consumer genetic testing becomes more advanced and is marketed to the public, it is probable that regulatory oversight of labs performing these tests also will increase in an effort to protect the public. Thus, clinical laboratories and pathology groups are advised to monitor this situation in Australia. Similar regulatory actions could be taken in the US as well.
—JP Schlingman
Related Information:
‘Not Everyone Wants to Know’: Warnings Over Genetic Tests
Warning Over Direct-to-Consumer Genetic Tests
Retail Genetics
Growth in DTC Genetic Testing
Thinking About Life Insurance Through a Genetic Lens
Life Insurance Products and Genetic Testing in Australia
British Health Authorities Criticize Medical Laboratory Tests for Consumers
Medical Laboratory Tests for Consumers Under Investigation on Two Continents
Sep 30, 2016 | Laboratory Instruments & Laboratory Equipment, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing, Management & Operations
Test ordering and results interpretation can confuse the public says Dartmouth Institute, which is why some clinical laboratories limit the types of lab tests that people can request
Giving consumers direct access to medical laboratory testing continues to be a subject of some controversy. One factor in this debate is Theranos, which brought much attention to direct access testing, followed by extensive news coverage in recent months of its problems with reporting accurate clinical laboratory test results.
Concerns about allowing consumers to have direct access to lab testing were the subject of a recent National Public Radio (NPR) Shots Health News story. Several medical experts were interviewed and described why they had concerns about direct access testing (DAT).
One such expert is H. Gilbert Welch, MD, MPH, Professor of Medicine, Community and Family Medicine at The Dartmouth Institute (Dartmouth). According to Welch, DAT could contribute to over-diagnosis and give people an inaccurate impression of what good health actually means. (more…)
Mar 18, 2011 | Digital Pathology, Laboratory News, Laboratory Pathology
Pathology departments may want to create similar courses to teach medical students how to interpret genetic and genotyping tests
Genetic testing of participating university students was part of a special class that was conducted at the Stanford University School of Medicine last summer. The genetic pathology test was voluntary for the 54 students who participated in the eight-week course that was designed by a student.
The genotyping happened as part of the class, titled “Genetics-210, Genomics and Personalized Medicine.” It was intended to help medical students learn how to interpret genetic tests, and also to help them gain an understanding of ho learning the results of such tests could affect future patients.
(more…)
Mar 4, 2011 | Digital Pathology, Laboratory News, Laboratory Pathology
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.
(more…)
