FDA cautions patients to not use data gained from the DTC test to make healthcare decisions on their own
Clinical laboratories continue to be impacted by the growing direct-to-consumer (DTC) testing market, as more walk-in lab customers order at-home tests. Now, the US Food and Drug Administration (FDA) has authorized a DTC test company to provide results of a pharmacogenetic (PGx) test to customers without needing a doctor’s order. This is the first genetic test of its kind to receive such FDA authorization and is in line with the government’s focus on precision medicine.
23andMe gained the authorization through the FDA’s de novo classification process, which the FDA uses to classify new devices that have no existing classification or comparabledevice on the market.
“We’ve continued to innovate through the FDA and pioneer safe, effective pathways for consumers to directly access genetic health information,” said Anne Wojcicki, co-founder and CEO of 23andMe, in a news release. “Pharmacogenetic reports are an important category of information for consumers to get access to, and I believe this authorization opens the door for consumers to work with their health providers to better manage their medications.”
However, some experts caution that informing patients
directly on how they metabolize medications based on genetic testing could
encourage them to bypass physicians and medical laboratories in the decision-making
process.
In a safety communication, the FDA alerted patients and
healthcare providers that “claims for many genetic tests to predict a patient’s
response to specific medications have not been reviewed by the FDA and may not
have the scientific or clinical evidence to support this use for most
medications. Changing drug treatment based on the results from such a genetic
test could lead to inappropriate treatment decisions and potentially serious
health consequences for the patient.”
Tim Stenzel, MD, PhD (above), Director, Office of In Vitro Diagnostics and Radiological Health at the FDA, told FierceBiotech, “This test should be used appropriately because it does not determine whether a medication is appropriate for a patient, does not provide medical advice, and does not diagnose any health conditions. Consumers should not use this test to make treatment decisions on their own.” (Photo copyright: LinkedIn.)
PGx Supports
Precision Medicine
Pharmacogenetics (PGx) is the study of how genetic differences among individuals cause
varied responses to certain drugs. Demand for PGx testing has increased
exponentially as it becomes more valuable to consumers. It could provide a path
to precision medicine treatment plans based on each patient’s genetic traits. And
help determine which drug therapies and dosages may be optimal and which
medicines should be avoided.
“This test is a step forward in
making information about genetic variants available directly to consumers and
better inform their discussions with their healthcare providers,” Stenzel told FierceBiotech. “We know that consumers
are increasingly interested in genetic information to help make decisions about
their healthcare.”
The genes and their variants examined in the 23andMe PGx
test are:
Innovative hospital and health networks also are starting to
make PGx tests available in primary care settings.
Sanford Imagenetics, part of the Sanford Health system, has produced a $49 laboratory-developed test (LDT) for genetic screening known as the Sanford Chip to help physicians select the most advantageous therapies for their patients. It uses a small amount of blood to identify patients’ risk for certain genetic diseases and determine which medications would be best for them.
Sanford Health, headquartered in Sioux Falls, SD, is one of
the largest health systems in the US with 44 hospitals, 1,400 physicians, and
more than 200 senior care locations in 26 states and nine countries.
Geisinger Health, headquartered in Danville, PA, has initiated a pilot project based on PGx testing. The genetic sequencing data from 2,500 patients will be reviewed to determine if they are taking the best medication for their health conditions. Patients in need of changes to their prescriptions will be contacted by Geisinger pharmacists for recommendations.
As consumer demand for PGx testing increases, DTC customers will
likely continue seeking new information about their genome. Clinical
laboratories could play a role in interpreting that data and assisting
pathologists and other healthcare providers determine the best drug therapies
for optimal health outcomes.
New McKinsey report offers three market trends that could help clinical laboratories position themselves as front-runners in the race toward precision medicine With federal Medicare reporting and reimbursement programs now weighted heavily toward precision medicine practices that involve genetic testing to reveal predispositions to certain diseases, the trend is widely recognized as the future of U.S. healthcare. But are clinical laboratories and anatomic pathology groups prepared to take...
Direct-to-consumer testing companies’ privacy policies leave many consumers unaware their genetic information may be shared with third parties Clinical laboratories and anatomic pathologists that perform genetics testing know they are responsible for protecting their patients’ privacy and securing the test results data. However, when it comes to direct-to-consumer (DTC) testing companies, patient privacy is not so clearly defined. This leave some patients vulnerable when their health data gets...
While healthcare consumers seem enamored with the idea of investigating their genomic ancestry in growing numbers, the question of how the data is collected, secured, and distributed when and to whom, is under increased scrutiny by federal lawmakers, bioethicists, and research scientists.
However, should public demand for DTC testing find support in Congress, some lab companies offering direct-to-consumer genetic tests could find their primary source of revenue curtailed.
DTC Sales Skyrocket as FDA Authorizes Genetic Tests for Certain Chronic Diseases
Nevertheless, consumer demand for DTC tests continues to rise. In a press release, Ancestry, a family genetic history and consumer genomics company, reported:
Record sales of AncestryDNA kits during the 2017 four-day Black Friday to Cyber Monday weekend, selling more than 1.5 million kits; and,
The 2017 sales were triple the amount of kits sold during the same period in 2016.
Possibly helping the sale of DTC genetic tests may be the US Food and Drug Administration (FDA) authorization last year of 23andMe’s Personal Genome Service Genetic Health Risk tests for 10 diseases or conditions, including:
Senator Calls for Investigation of DTC Genetic Test Company Use of Patient Data
These are impressive sales. However, medical professionals may wonder how so much genetic data can be kept private by the testing companies. And medical laboratory leaders are not the only ones asking about privacy and the use of genetic test results.
In a November press conference, Senate Minority Leader Chuck Schumer called on the Federal Trade Commission (FTC) to look into genetic testing companies’ privacy and disclosure practices, noted NBC News.
“What those companies can do with all that data—your most sensitive and deepest info, your genetics—is not clear, and in some cases not fair and not right,” stated Schumer.
Congress took action in 2008 by passing the Genetic Information and Nondiscrimination Act (GINA), which bans employers and insurers from making decisions about people based on genetic predispositions to disease.
However, lawmakers also recently introduced House Bill 1313, the Preserving Employee Wellness Programs Act. It reads, in part, “… the collection of information about the manifested disease or disorder of a family member shall not be considered an unlawful acquisition of genetic information with respect to another family as part of a workplace wellness program offered by an employer ….”
“We’re injecting terrible opportunities for discrimination in the workplace,” Robert Green, MD, Professor of Medicine (Genetics) at Harvard Medical School, told Gizmodo.
Robert C. Green, MD, MPH (above), Professor of Medicine, Harvard Medical School; Associate Physician, Brigham and Women’s Hospital; Geneticist, Brigham and Women’s Hospital; and Director, Genomes2People Research Program at Brigham and Women’s Hospital, believes weak genetic privacy laws are inhibiting research and clinical care. “People decline genetic tests because of concerns over privacy and genetic discrimination, especially insurance discrimination,” he told Gizmodo. “This is stymying biomedical research and people’s access to healthcare.” (Photo copyright: Harvard Medical School.)
HIPAA Enables Selling of Anonymized Patient Genetic Data
“The Portability Act was passed when genetic testing was just a distant dream on the horizon of personalized medicine,” Pitts wrote in a Forbes commentary. “But today that loophole has proven to be a cash cow. 23andMe has sold access to its database to at least 13 outside pharmaceutical firms … AncestryDNA recently announced a lucrative data-sharing partnership with the biotech company Calico.”
For its part, in an online privacy statement, 23andMe noted, “We will use your genetic information or self-reported information and share it with third parties for scientific research purposes only if you sign the appropriate consent document.”
Similarly, Ancestry points out in its posted privacy statement, “We share your genetic information with research partners only when you provide us with your express consent to do so through our informed consent to research.
Consumers Speak Out on Privacy; States Study Laws and Genetic Testing by Research Hospitals
How do consumers feel about the privacy of their genetic test data? According to a news release, a survey by 23andMe found the following:
80% of Americans are concerned about DNA testing privacy; however,
88% have no awareness or understanding of what testing companies do to protect information; and,
74% of people are, nonetheless, interested in genetic testing.
Meanwhile, as states promulgate various genetic privacy laws, a paper published at SSRN by researchers at the Massachusetts Institute of Technology (MIT) and the University of Virginia (UV) examined how different state laws affect patients’ decisions about having genetic testing performed at various research hospitals.
The MIT/UV study focused on genetic testing by research hospitals as opposed to the DTC genetic testing by private companies. The paper explained that states have one of three types of laws to protect patients’ privacy in genetic testing:
“Require the provider to notify the individual about potential privacy risks;
“Restrict discriminatory use of genetic data by employers or insurance companies; and,
“Limit redisclosure without consent.”
Findings, netted from more than 81,000 respondents, suggest:
When genetic data are explained in state laws as patient property, more tests are performed;
Conversely, state laws that focus on risk, and ask patients to consent to risk, lead to less people giving the go-ahead for genetic testing.
“We found a positive effect [on the number of tests] was an approach where you gave patients the potential to actually control their own data,” Catherine Tucker, PhD, Distinguished Professor of Management at MIT and one of the study researchers, told MIT News.
Whether the provider of genetic tests is a private testing company or a research hospital’s clinical laboratory, privacy continues to be a concern, not just to physicians but to federal lawmakers as well. Nevertheless, healthcare consumers and patients who receive comprehensible information about how their genetic data may be used seem to be agreeable to it. At least for now, that is.
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.)
A Quick Resolution for Orig3n’s CLIA Woes?
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.
