Jan 10, 2018 | Compliance, Legal, and Malpractice, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory News, Laboratory Pathology, Laboratory Testing
CMS sends letter to Orig3n notifying the genetic test company that it may not have the required certifications to market its genetic tests
Orig3n’s recent ill-fated “DNA Day” promotion to offer free genetic tests during an NFL football game this past fall pushed Orig3n into the media spotlight. The Massachusetts-based biotech company—which sells 18 different DNA tests on its website—suspended the promotion due to questions from the Centers for Medicare and Medicaid Services (CMS) and the Maryland Department of Health (MDH) regarding the legality of the testing under the Clinical Laboratory Improvement Amendments of 1988 (CLIA).
Since then, however, new details from BuzzFeed and GenomeWeb indicate that Orig3n may not have the required certifications to market their genetic tests after all. On October 30, 2017, CMS served Orig3n with an out-of-compliance notice. According to BuzzFeed, the letter came from Karen Dyer, MT (ASCP) DLM, Director, Division of Laboratory Services and the CLIA program at CMS.
In a letter to Kate Blanchard, Chief Operating Officer at Orig3n, Dyer wrote, “To apply for CLIA certification, Orig3n must contact both the Massachusetts and California state agencies immediately for guidance. Orig3n’s various tests analyze 18 genes related to health, from ‘muscle power’ to ‘sugar sensitivity’ to ‘age-related metabolism’. It offers genetic testing that provides information for the assessment of health.” The letter gave Orig3n a November 13 deadline to update CMS on issues regarding their CLIA certification.
Robin Smith, CEO, Orig3n, told GenomeWeb the notice “was the first time that any clear guidance was given regarding specific genes and requirements for CLIA/non-CLIA.” He also noted efforts Orig3n undertook over the prior year to fully certify their laboratory.
The test shown above is one of 18 genetic tests Orig3n offers direct to consumers. According to Vice, Orig3n claims their tests do not require FDA-approval “because the tests are not diagnostic [and] they don’t require it.” The Baltimore Sun reported that “Orig3n is confident it can receive the proper approvals and plans to have a fan giveaway later this season at one of our games.” (Photo copyright: Orig3n.)
Fortunately for Orig3n, meeting compliance and obtaining certification for their existing lab is no longer a requirement to resolve the issue. In a November press release, Orig3n announced the purchase of Interleukin Genetics. Orig3n plans to absorb Interleukin’s existing assets, including a CLIA-certified genetics laboratory in Waltham, Mass., capable of analyzing more than one million samples annually.
“Once we met with Interleukin Genetics, we saw a natural alignment between the two organizations regarding our shared commitment to a future of personalized health,” Smith noted. “With our trajectory of accelerated growth, we couldn’t imagine a better fit for acquisition. We are very pleased to be welcoming Interleukin Genetics to Orig3n.”
GenomeWeb asked Blanchard how the acquisition would impact Orig3n’s commercialization of the 18 tests in question by CMS, now that Orig3n owns a CLIA-certified lab, and through it, meets the requirements of CMS’ out-of-compliance notice. Blanchard declined to comment.
New Concerns Surrounding Interleukin Assets
Yet, in solving one set of problems, some experts believe Orig3n might have inherited a new set. In July 2016, GenomeWeb reported that Interleukin Genetics would be laying off 63% of its staff. Unable to secure a clinical services agreement, the company could not extend debt payment deferrals with its senior lenders. At the time of writing, debts totaled $5.6 million.
Further complicating matters, a 2015 peer-reviewed analysis published in the Journal of the American Dental Association (JADA) questioned the clinical validity of an inflammation management program called “Ilustra” that Interleukin claimed, “identifies individuals with an increased risk for severe and progressive periodontitis, due to a life-long genetic predisposition to over-produce Interleukin-1 (IL-1), a key mediator of inflammation.”
Another GenomeWeb article reported on the turbulent road the Ilustra program followed until Orig3n eventually pulled it from the market. GenomeWeb noted critics’ concerns about the marketing of precision medicine, genetic testing, and regulatory issues facing medical laboratories as these technologies mature.
Clinical Laboratories Continue to Field Concerns Over DTC Testing
“This [genetic] test would have been laughed out of the room if it had been presented to oncologists, or to professionals in medical genetics,” declared Scott Diehl, PhD, co-author of the JAMA analysis, a genetics researcher at Rutgers School of Dental Medicine, and Professor and Principal Investigator at Rutgers Biomedical Health Sciences.
GenomeWeb notes in their latest coverage that with Orig3n’s purchase of Interleukin Genetics, Diehl is once again concerned that the genetic tests in question might find their way back to the market.
When GenomeWeb questioned Orig3n about the concerns surrounding Interleukin’s Ilustra product, a spokesperson stated, “that was simply before Orig3n’s time with the company and they do not have a part in it.” Blanchard added, “[We are] looking at the entire Interleukin portfolio and implementing the tests if and when we decide it is appropriate.”
Regardless of the decisions made by Orig3n on future genetic tests and genetic service offerings, coverage of this event highlights a myriad of concerns—from regulatory scrutiny to the pitfalls of acquiring existing diagnostic tests or laboratory assets—facing clinical laboratories, anatomic pathologists, and other medical professionals working in the ever-shifting landscape of the modern healthcare system.
—Jon Stone
Related Information:
This DNA Testing Company Is Violating Federal Lab Testing Rule
Orig3n Acquires Interleukin Genetics, a Genetics-based Personalized Health Company, to Advance the Future of Health Faster
Orig3n’s Purchase of Interleukin’s CLIA Lab May Appease CMS, But Some Question Plans for Test Assets
Biotech Company Offers Fitness and Beauty-Focused Genetic Tests
Interleukin Genetics Slashes 63 Percent of Workforce, Shuts down Program and Mulls Sale
‘DNA Day’ Planned for Ravens Game Undergoes Federal and State Scrutiny
Interleukin Shutting Down Genetic Testing Program, Lays Off Staff
Divergent Findings on Interleukin Gum Disease Risk Test Raise Questions about Clinical Use
Interleukin 1 Genetic Tests Provide No Support for Reduction of Preventive Dental Care
Controversial Gum Disease Risk Test Highlights Precision Medicine Marketing, Regulatory Issues
State and Federal Agencies Throw Yellow Flag Delaying Free Genetic Tests at NFL Games in Baltimore—Are Clinical Laboratories on Notice about Free Testing?
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
Sep 25, 2017 | Compliance, Legal, and Malpractice, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Management & Operations
Payers are cutting reimbursements for anatomic pathology services, making it essential for every pathology group to understand its financial present and future
Certain pathology business leaders are warning their colleagues that the era of private pathology group practice domination of the anatomic pathology marketplace is about to end. The only question is how rapidly the clinical and financial foundations of smaller pathology group practices erodes to the point where these groups are unable to generate adequate reimbursement to sustain the practice and the incomes of the individual pathologists.
However, along with this bad news comes a note of optimism. There is a once-in-a-lifetime opportunity for the anatomic pathology profession to take ownership of genetic testing and precision medicine—the most important diagnostic technologies to emerge in the past 100 years. The danger for anatomic pathologists is how to successfully transition from the private group practice model to the new clinical practice models that deliver genetic testing and precision medicine services.
Why Pathologists Are Making Less Money Today
The economic plight of private practice pathology is familiar to all pathologists. During the past decade, reimbursement for technical component (TC) and professional component (PC) services was regularly beat down by payers. For example, pathologists lost the TC grandfather clause in 2012, which immediately caused many histology labs to go from profit to loss. (See Dark Daily, “In Fixing Physician Medicare Pay, Congress Enacts Yet Another Cut in Clinical Laboratory Test Fee Schedule,” February 12, 2012.)
Similarly, over the past 10 years, each time private health insurers negotiated the renewal of a managed care contract with a pathology group practice, they aggressively cut the prices they paid for anatomic pathology services. And the corresponding explosive growth of narrow provider networks exacerbated the financial erosion from lower prices. Many smaller pathology groups found themselves excluded from these networks, causing them to lose access to the large numbers of private-pay patients served by these networks.
“It is important for every surgical pathologist and every pathology practice administrator to recognize that they have the ability to negotiate much more favorable terms and increased network access with health insurers, but only if they come to the negotiating table with the right information and techniques,” observed Robert L. Michel, Editor-in-Chief of Dark Daily and The Dark Report. “Pathology groups showing strong financial performance today know these techniques and strategies. When negotiating managed care contracts, they achieve higher reimbursements, more favorable terms, and in-network status.”
Proven Ways to Help Pathology Groups Protect and Increase Revenue
Pathologists who would like to protect their groups’ revenue and bolster their partners’ income have the opportunity to learn and master the most effective managed care contracting techniques and strategies. Three nationally prominent experts in pathology business and operations are participating in a special webinar, titled “How Payers Are Repricing Anatomic Pathology: Your Financial Present and Your Pathology Group’s Future,” which takes place on Thursday, September 28, 2017 at 2:00 p.m. EDT.
Pictured above left to right are Mick Raich, President and CEO, Vachette Pathology; Jeffrey Pearson, MD, System Medical Director, Bronson Hospital Laboratories; and, Christopher Jahnle, co-founder and Managing Director, Haverford Healthcare Advisors. The three distinguished speakers will share expertise and experiences you can use to protect your pathology group’s revenue while preserving partner income. (Photo copyright: Dark Daily.)
First to speak on this webinar is Mick Raich, founder and CEO of Vachette Pathology, of Blissfield, Mich. He will discuss how Medicare and private insurers are using new pathology and lab repricing models to slash reimbursement and control utilization of expense pathology testing services. Raich will explain why payers are engaging such third-party companies as AIM Specialty Health of Chicago, Avalon Healthcare Solutions of Tampa, Fla., BeaconLBS of Montvale, N.J., and InformedDNA of St. Petersburg, Fla., to develop coverage guidelines, issue preauthorization, and manage the network of labs and pathology groups allowed to provide services.
Raich will further explain what pathologists must know about the Medicare Access and CHIP Reauthorization Act (MACRA) physician payment program, with its MIPS—Merit-based Incentive Payment System—that is designed to pay bonuses or assess penalties each year, depending on how individual physicians perform against their own operational and clinical benchmarks.
Insidious Methods Payers Use to ‘Take Back’ by Underpaying Certain Pathology Claims
Another topic that Raich will address can mean significantly greater collected revenue for your pathology group. He will explain the new phenomenon of how private payers are auditing error rates on claims, then taking back those overpayments by underpaying the labs or pathology groups on claims for specific CPT codes (current procedural terminology codes). Raich will show how your billing/collection team can detect these claims and recover full payment from the payers.
How One Pathology Group Practice Doubled in Size
The second important financial topic of the webinar involves the merger, acquisition, and consolidation of private pathology group practices. You’ll learn why many group practices are losing their independence due to declining revenue or because their parent hospital was acquired by a health system. Pathologist Jeffrey Pearson, MD, is the System Medical Director at Bronson Hospital Laboratories in Kalamazoo, Mich. He is also a partner and President of Pathology Services of Kalamazoo, PC.
During his tenure at Bronson, Pearson helped facilitate the acquisition and assimilation of two hospital laboratories and one for-profit laboratory. His pathology practice has doubled in size and developed a high degree of subspecialization. Each time, the pathology group associated with the acquired entity had to be integrated with his health system’s existing pathology group practice. Experiences will be shared regarding:
· How to assimilate acquired laboratories;
· Practice utilization management; and
· Leveraging success to grow the practice and obtain favorable part A contracts.
Understanding How to Increase the Value of Your Anatomic Pathology Group
To round out the financial techniques and strategies you and your pathology practice administrator can use to protect your group’s revenue and boost partner income, the webinar’s third expert will discuss the latest developments in pathology practice mergers, acquisitions, and consolidations.
Christopher Jahnle is co-founder and Managing Director of Haverford Healthcare Advisors in Paoli, Penn., a suburb of Philadelphia. Over the past decade, his firm has represented Aurora Diagnostics of Palm Beach Gardens, Fla., as a purchaser of private pathology group practices.
Jahnle will describe the specific characteristics of a private pathology practice that have the highest value to buyers in today’s marketplace. You’ll understand how your pathology group’s unique mix of managed care contracts, hospital/health system relationships, and sub-specialist expertise will be valued by a potential acquirer or merger partner.
Jahnle will share case study examples to help you identify useful things your pathology group can do to make it more profitable and increase its value. This is essential knowledge if your group’s pathologists are considering such strategies as:
· “Should we merge with a bigger pathology group?”
· “Should we sell our pathology group?” and
· “Should we add subspecialists and pursue more hospital contracts?”
All three expert speakers have practical knowledge that you can use to protect your pathology group’s revenue while preserving partner income. It is why this webinar is timely and a “must attend” for you, your pathology practice administrator, and your pathology group’s legal and financial consultants.
Full details about this important webinar are at this link (or copy and paste this URL into your browser: http://pathologywebinars.com/how-payers-are-repricing-anatomic-pathology-your-financial-present-and-your-pathology-groups-future/).
—Michael McBride, Managing Editor
Related Information:
How Payers Are Repricing Anatomic Pathology: Your Financial Present and Your Pathology Group’s Future
In Fixing Physician Medicare Pay, Congress Enacts Yet Another Cut in Clinical Laboratory Test Fee Schedule
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
Aug 7, 2017 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory News, Laboratory Operations, Laboratory Pathology
Phenotypic data combined with artificial intelligence provides a new biomarker for genetic laboratories to use when diagnosing disease
Researchers are demonstrating that facial analysis and facial recognition technology can play a useful role in helping pathology and medical laboratory scientists diagnose disease. This is just the latest example of how advances in different technologies can add new sources of biomarkers for clinical laboratories.
Biomarkers used by clinical laboratories and anatomic pathologists are usually biological substances or states that can be measured during testing either in vivo or in vitro. However, clinical laboratories may soon be working with biomarkers based on measurable aspects of external human anatomy. One such biomarker employs facial analysis and facial recognition technology to produced phenotypic data that could help pathologists diagnose rare genetic disorders. A human phenotype is data comprised of a person’s “observable characteristics or traits.”
Phenotypic Data from Photographs
Three genomics companies: FDNA, GeneDx, and Blueprint Genetics, are collaborating on a unique project, dubbed Face2Gene Labs. They are using a facial recognition application called Face2Gene developed by FDNA. The application uses artificial intelligence (AI) and phenotyping technology to extract data from facial photographs of patients. The data is then examined and compared to a database of hundreds of thousands of patterns that were generated from photos of patients with known rare genetic disorders. The algorithm then compiles a list of possible diagnoses. The goal is to produce phenotypic data that clinicians can transmit in real-time directly to medical laboratories for analysis.
“Trying to diagnose patients with genetic sequencing is like searching for a pin in a 22,000-needle haystack,” stated Dekel Gelbman, CEO, FDNA, in a news release. “By providing accurate phenotypic and clinical data to the lab directly at the point of genetic interpretation, we are truly realizing the promise of precision medicine. And, with the power of artificial intelligence behind it, clinicians will be pointed toward potential diagnoses that they may have never otherwise considered.”
The Face2Gene application developed by FDNA uses artificial intelligence to compare digital photographs of patients’ faces against hundreds of thousands of stored patterns to help clinicians identify genetic disorders in children. (Photo copyright: FDNA.)
Solomon goes on to praise GeneDx and Blueprint Genetics as examples of innovative and renowned labs adopting technology that will lead the way in pinpointing rare disease and promote further medical advancements.
“This is an important collaboration for several reasons,” states Ben Solomon, MD, a Clinical Geneticist and Managing Director of GeneDx, in the news release. “It’s a great way to leverage clinical and genetic information and machine learning approaches to find answers for the clinicians, patients, and families GeneDx serves. Aside from providing answers, this integration will make the diagnostic testing process easier, smoother, and more enjoyable for clinicians.”
85% Increase in Diagnostic Yield with Addition of Phenotypic Data
A recent multi-center study called PEDIA (short for Prioritization of Exome Data by Image Analysis) looked into the accuracy of genetic testing when using FDNA’s Face2Gene tool. The study, conducted by researchers at the Berlin Institute of Health and Charité University of Medicine in Berlin, showed promising results of the collaboration.
“We estimate that the addition of phenotypic features [encoded in HPO terms] increases the diagnostic yield to about 60% [from 25% without],” stated Peter Krawitz, MD, PhD, and Principal Investigator for PEDIA. “When adding facial analysis, FDNA’s technology, to that process, the diagnostic yield increases to more than 85%,” he explained in the FDNA news release.
The Rarity Paradox and Diagnosing Genetic Disorders in Children
According to Global Genes, a rare disease patient advocacy non-profit organization, one in 10 Americans (approximately 30 million people) suffer from a rare genetic disorder. These disorders also affect the same percentage of people worldwide, or about 350 million people. There are more than 7,000 distinct rare diseases known to exist and approximately 80% of those illnesses are caused by faulty genes. In addition, about half of the people affected by rare genetic illnesses are children.
“We call it the rarity paradox,” stated Gelbman in an article published in Wired. “Each rare disease in itself affects very few people, but on aggregate the effect is pretty staggering.”
The three companies hope their collaboration will help clinicians determine faster, more accurate diagnoses, while diminishing anxiety among patients and their families regarding the unknowns of rare genetic disorders.
“Since 2012, Blueprint Genetics has been developing technological innovations in sequencing and clinical interpretation to improve the quality and performance of rare disease diagnostics,” noted Tero-Pekka Alastalo, MD, PhD, President, Chief Medical Officer of Blueprint Genetics, in the FDNA news release. “It’s great to see how these innovations are now helping the genetics community and patients suffering from inherited disorders. Combining these technological innovations with our transparent approach to diagnostics and next generation phenotyping tools like Face2Gene represents the next steps forward in molecular genetic diagnostics.”
Pathology groups and clinical laboratories are advised to monitor this exciting development in genomic research. It illustrates how unrelated technologies, such as facial analysis software, could soon be used for diagnostic purposes to detect the presence of genetic disorders, and to determine the best therapies for patients. Labs will want to be prepared to engage with clinicians who adopt this technology and to answer patients’ questions about it.
—JP Schlingman
Related Information:
FDNA Announces Collaboration with GeneDx and Blueprint Genetics in the Launch of Face2Gene LABS
FDNA Expands Facial Analysis Reach to 2,000 Syndromes
Groups Explore Facial Analysis Software for Inherited Disease Diagnosis, Research
Your Face Could Reveal if You Have a Rare Disease
Face2Gene: Take a Headshot – Get a Diagnosis
