Clinical laboratory managers should note that this company’s new diagnostic offering involving screening embryos for specific genetic conditions is not without controversy
Is the world ready for whole genome sequencing (WGS) of preimplantation embryos to help couples undergoing in vitro fertilization (IVF) treatments know if their embryos have potential genetic health problems? Orchid Health, a clinical preimplantation genetic testing (PGT) laboratory that conducts genetic screening in San Francisco, believes the answer is yes! But the cost is high, and the process is not without controversy.
According to an article in Science, Orchid’s service—a sequencings of the whole human genome of preimplantation embryos at $2,500 per embryo tested—“will look not just for single-gene mutations that cause disorders such as cystic fibrosis, but also more extensively for medleys of common and rare gene variants known to predispose people to neurodevelopmental disorders, severe obesity, and certain psychiatric conditions such as schizophrenia.”
However, Science also noted that some genomics researchers “claim the company inappropriately uses their data to generate some of its risk estimates,” adding that the “Psychiatric Genomics Consortium (PGC), an international group of more than 800 researchers working to decode the genetic and molecular underpinnings of mental health conditions, says Orchid’s new test relies on data [PGC] produced over the past decade, and that the company has violated restrictions against the data’s use for embryo screening.”
There are some who assert that a whole genome sequence of an embryo—given today’s state of genetic technology and knowledge—could generate information that cannot be interpreted accurately in ways that help parents and doctors make informed prenatal testing decisions. At the same time, criticisms expressed by the PGC raise reasonable points.
Perhaps this is a sign of the times. Orchid Health is the latest genetic testing company that is looking to get ahead of genetic testing competitors with its diagnostics offerings. Meanwhile, knowledgeable and credible experts question the appropriateness of this testing, given the genetic knowledge that exists today.
“This is a major advance in the amount of information parents can have,” Orchid’s founder and CEO Noor Siddiqui (above) told CNBC. “The way that you can use that information is really up to you, but it gives a lot more control and confidence into a process that, for all of history, has just been totally left to chance.” Should Orchid Health’s analysis prove useful, pediatricians could order further clinical laboratory prenatal testing to confirm and diagnose potential genetic diseases for parents. (Photo copyright: General Assembly.)
Orchid Receives World-class Support
Regardless of the pushback from some genetic researchers, Orchid has attracted several world-class geneticists and genetics investors to its board of advisors. They include:
Jacques Cohen, PhD, embryologist, co-founder and former director for genetics laboratory Reprogenetics LLC (now CooperGenomics).
Anne Wojcicki, co-founder and CEO of direct-to-consumer genetic testing company 23andMe.
and others.
The WGS test, according to Orchid, detects genetic errors in embryos that are linked to severe illnesses before a pregnancy even begins. And by sequencing 99% of an embryo’s DNA, the test can spot potential health risks that could affect a future baby.
According to its website, the PGT lab company uses the WGS data to identify both monogenic (single-gene) and polygenic (multiple-gene) diseases, including:
Orchid is not without its critics. Knowledgeable, credible experts have questioned the appropriateness of this type of genetic testing. They fear it could become a modern-day form of eugenics.
Andrew McQuillin, PhD, Professor of Molecular Psychiatry at University College London, has concerns about Orchid’s preimplantation genetic testing. He maintains that it is difficult to control how such data is used, and that even the most accurate sequencing techniques do not predict disease risk very well.
“[Polygenic risk scores are] useful in the research context, but at the individual level, they’re not actually terribly useful to predict who’s going to develop schizophrenia or not,” McQuillin told Science. “We can come up with guidance on how these things should be used. The difficulty is that official guidance like that doesn’t feature anywhere in the marketing from these companies.”
McQuillin also stated that researchers must have an extensive discussion regarding the implications of this type of embryo screening.
“We need to take a look at whether this is really something we should be doing. It’s the type of thing that, if it becomes widespread, in 40 years’ time, we will ask, ‘What on Earth have we done?’” McQuillin emphasized.
Redefining Reproduction
It takes about three weeks for couples to receive their report back from Orchid after completing the whole genome sequence of a preimplantation embryo. A board-certified genetic counselor then consults with the parents to help them understand the results.
Founder and CEO Noor Siddiqui hopes Orchid will be able to scale up its operations and introduce more automation to the testing process to the cost per embryo.
“We want to make this something that’s accessible to everyone,” she told CNBC.
“I think this has the potential to totally redefine reproduction,” she added. “I just think that’s really exciting to be able to make people more confident about one of the most important decisions of their life, and to give them a little bit more control.”
Clinical laboratories have long been involved in prenatal screening to gain insight into risk levels associated with certain genetic disorders. Even some of that testing comes with controversy and ambiguous findings. Whether Orchid Health’s PGT process delivers accurate, reliable diagnostic insights regarding preimplantation embryos remains to be seen.
Clinical laboratories may soon find opportunities to assist retail pharmacists who are doing genetic test counseling, as employers’ support of genetic testing advances
In another market example of acceptance of genetic tests by major employers, a new pilot program is underway by Kroger Prescription Plans that offers GeneSight by Myriad Genetics as a benefit. GeneSight is an LDT, a laboratory-developed pharmacogenomic test, used to treat psychiatric disorders, such as depression.
As part of the agreement with Myriad Genetics, Inc. (NASDAQ:MYGN), pharmacists at more than 2,300 Kroger stores will offer counseling about GeneSight to eligible employees and coordinate the testing with referring healthcare providers, according to a news release.
Clinical laboratory leaders and clinical pathologists will want to observe these early steps by Kroger to offer genetic tests and genetic test counseling in a retail pharmacy setting. If the GeneSight benefit option and in-store pharmacy interventions prove popular, Kroger Prescription Plans may soon offer other genetic tests, as well.
“Depression is a leading cause of disability and lost productivity in the United States, and only 40% of people reach remission after their first antidepressant medication,” Colleen Lindholz (above), President of Kroger Health, told the Cincinnati Business Courier. “We are committed to helping people combat this debilitating disease, and we’re proud to launch this pilot program. This test can help patients escape the frustrating process of trying multiple medications in the hopes of finding one that works.” (Photo copyright: EatingWell.)
Kroger Not the Only Pharmacy to Offer Genetic Tests and
Counseling
Headquartered in Cincinnati, Ohio, Kroger (NYSE:KR) is the largest supermarket chain in the US and the country’s fourth-largest employer. Kroger Prescription Plans—a pharmacy benefit manager (PBM)—provides pharmacy management services and clinical programs to employers, including Kroger, in 32 states. But it’s not the only pharmacy company to offer genetic tests and genetic counseling.
Last year Albertsons Companies and Genomind, a personalized medicine platform, launched Genecept Assay (now known as Professional PGx)—a genetic test designed to help doctors make informed treatment decisions for their mental health patients—as well as pharmacy-based genetic counseling at select Albertsons and its subsidiaries, according to Supermarket News.
Participating locations include:
21 Sav-On pharmacies at Albertsons in Boise,
Idaho;
Five Jewel-Osco pharmacies in the Chicago area;
and
Two Sav-On pharmacies at Acme supermarkets in
the Philadelphia area.
The Albertsons-Genomind partnership is aimed at patients who
may be struggling with a medication for depression, anxiety,
obsessive-compulsive disorder, or other mental illnesses. Patients can receive
counseling from “specially trained pharmacists” who work with referring
clinicians to offer [Professional PGx], noted Supermarket News.
Pharmacists as Genetic Test Counselors?
Pathologists and medical laboratory leaders may be intrigued
by the concept of putting pharmacists into the role of a genetic test
counselor. However, pharmacists may need to increase their knowledge of
pharmacogenomics, reported Drug
Topics.
“The science advances in the field are just making it more
critical that pharmacists have a really strong understanding of how to blend [pharmacogenomics]
into their training,” Kathleen Jaeger,
National Association of Chain Drug Stores
(NACDS) Senior Vice President of Pharmacy Care and Patient Advocacy, told Drug
Topics.
However, some see pharmacists as the natural experts in the space. “In my opinions, [pharmacists] should be the people who own pharmacogenetics. It’s a relatively new field, and who better than pharmacists to optimize drug therapy?” Daniel Dowd, PharmD, Vice President of Medical Affairs at Genomind, told Drug Topics.
Pharmacists will need to be proactive in working with companies that provide genetic testing, according to a Managed Health Care Connect Pharmacy Learning Network analysis, which also indicated billing for pharmacists’ informational services would need to be addressed.
“These opinions about this type of role for pharmacists will not be what pathologists want to hear,” stated Robert L. Michel, Editor-In-Chief of The Dark Report, Dark Daily’s sister publication. “Pathologists have had the role of the ‘doctor’s doctor’ for decades. Pathologists are trained in how to recognize disease, how to determine which medical laboratory tests are appropriate for the symptoms displayed by a patient, and how to interpret the results to select the best therapies.
“Additionally, pathologists are trained to understand the
technical performance of clinical laboratory tests, such as whether the sample
was of acceptable quality to produce a reliable result, whether the analyzer
that produced a result was performing within specifications, and what factors
should be considered in tandem with the lab test results when making a
diagnosis,” he explained. “It is easy to see why the pathology profession would
argue that pharmacists lack this depth of knowledge and experience when
ordering and interpreting medical laboratory tests. How the pathology
profession will respond to these developments involving pharmacists,
interpretation of genetic test results, and counseling patients is not yet
clear.”
Opportunities for Clinical Laboratories to Assist
Pharmacies
Additionally, we suggested, clinical laboratory leaders and
pathologists could find opportunities helping others understand the results of
the genetic tests.
The recent partnerships between genetic test companies and
corporate retail pharmacies suggest that clinical laboratories could benefit
from reaching out to pharmacists who are now at a point-of-care and who may be
looking to improve their knowledge of pharmacogenomics.
While proposals might change before the final CMS draft, lobbyists see potential for improving Medicare payment totals and structures in the upcoming 2018 outpatient rule and physician fee schedule
At this time, efforts by medical laboratories to lobby and educate Medicare officials and members of Congress about the flaws in the Medicare program’s market study of what private health insurers pay for clinical laboratory tests have failed to trigger positive action on this matter. But despite the bad news concerning that issue, there is a positive development with a proposed rule that would change which lab tests should be included in bundles paid under the Hospital Outpatient Prospective Payment System (OPPS).
The details of how the clinical laboratory industry worked to educate the right decision-makers within the federal Centers for Medicare and Medicaid Services (CMS) was part of a story published by Axios. The story described how several different healthcare specialties conducted educational and lobbying campaigns and succeeded in getting favorable decisions on the matters of concern.
Changing the Medicare 14-day Medical Lab Test Billing Schedule Regulation
Though the complete Axios article covers several categories of healthcare lobbying, “The Win for Clinical Labs” section lists lobbying activities in 2017 on behalf of the medical laboratory industry. It covers:
· “Who met with the feds: Lobbyists with lab testing companies Myriad Genetics and Veracyte, pharmaceutical company Boehringer Ingelheim, and lobbying firm Todd Strategy, federal meeting records show.
· “What they wanted: An open comment period on the ‘14-day’ regulation, likely with the goal of adjusting or eliminating it, according to a lobbying presentation.
· “The 14-day regulation stipulates that if lab tests are ordered within 14 days of a patient’s discharge from a hospital, the hospital must bill Medicare for the tests. The lab then seeks payment from the hospital. Anything after 14 days, the lab can bill Medicare directly.
· “The companies argued in the presentation that the rule limits access to lab tests because hospitals may be reluctant to bill Medicare for labs after patients leave.
· “What they got: An open comment period, and a modification to the policy that would allow labs to bill Medicare directly for some tests.”
One success slated to enter the OPPS relates to the 14-day rule/Date of Service (DOS) determinations, which set strict billing requirements for diagnostic tests based on when the tests are ordered. Medical laboratories, pharmaceutical companies, and lobbying strategists teamed up to streamline the current regulations and improve how billing works for a range of Advanced Diagnostic Laboratory Tests (ADLTs).
Lobbying participants included:
· Biodesix of Boulder, Colo.;
· Boehringer-Ingelheim of Ridgefield, Conn.;
· Guardant Health Inc. of Redwood City, Cali.;
· LUNGevity Foundation of Chicago;
· Myriad Genetics of Salt Lake City, Utah;
· Veracyte of South San Francisco.
The graphic above was taken from a May 2017 presentation to policymakers at HHS and CMS, which focused on delays created by the 14-day rule. It described existing determinations as “developed for the old world of hospital and reference laboratories.”
Presentation speakers also cited concerns that current payment requirements might limit access to testing and delay diagnosis. As precision medicine often involves major illnesses—such as cancer—swift testing, diagnosis, and treatment are essential parts of improving patient outcomes.
Results of the Lobbying Effort Could Bring Relief for Hospitals and Clinical Laboratories
CMS posted their proposed OPPS rules for 2018 in July and created an open comment period, which closed in September.
In analysis of the current proposed rules at Health Law and Policy Matters noted, “The proliferation of molecular pathology testing technology, coupled with the implementation of the packaging policy a few years ago, has strained relationships between many hospitals and laboratories.”
The analysis outlined three currently proposed approaches from CMS:
· The first crates exceptions to current DOS rules for molecular pathology tests and ADLTs under certain conditions.
· The second only applies exemptions to ADLTs citing a lack of “access to care” concerns for molecular pathology tests.
· The third adds an exception for molecular pathology tests and ADLTs excluded from OPPS packaging, but applicable to “under arrangements” rules.
Other Lobbying ‘Wins’
Axios noted two other potential wins related to this year’s lobbying efforts.
1. Fresenius Medical Care, owner of National Cardiovascular Partners, opened public debate regarding pay rates for heart procedures in outpatient heart labs and ambulatory surgery centers.
2. CMS and HHS awarded Photocure, manufacturer of Cysview (FDA-approved technology for the detection of bladder cancer), a proposal for add-on billing codes to increase pay for bladder cancer procedures using their drug solutions.
However, these are just proposals. There is no guarantee they will reach the final draft for 2018—if at all.
Lobbying Expensive but Gets Results
While lobbying is an important way to shape the regulatory landscape surrounding healthcare, it is time- and money-intensive. In the presentation from Todd Strategy, LLC, regarding the 14-day rule, the speakers established a timeline spanning two years of administration and congressional outreach. They also pointed out that similar requests were made in 2016 for the calendar year 2017 OPPS rules that were never implemented.
As healthcare continues to shift toward personalized approaches, and diagnostic testing becomes an increasingly important aspect of diagnosing and treating disease, laboratories and healthcare groups must continue to identify opportunities to both increase revenue and streamline operations to continue growing.
With innovative medical laboratory tests and new diagnostic technologies emerging at a rapid pace, the opportunity to use lobbying to educate lawmakers and government regulators continues to be a viable tool for clinical laboratories interested in speeding change and protecting the ability of clinical laboratories to serve physicians and their practices—particularly because the system is known for its complex requirements and slow-moving bureaucracy.
Report states IVD companies are focusing on core lab, seeking China FDA approval, and targeting urgent care
Several of the same powerful trends reshaping healthcare and clinical laboratory services are having equally significant influence on in vitro diagnostics (IVD) manufacturers. In particular, the consolidation of hospitals and physicians, as well as the emergence of new sites of service—such as urgent care centers and retail clinics—are motivating IVD companies to tailor new diagnostic systems to the unique needs of these entities.
Kalorama, a division of MarketResearch.com, has released its list of Top-Trends that will affect IVD developers in 2017. IVDs are at the heart of the medical laboratory industry. Thus, these reports are critical to keeping clinical laboratory managers and pathology groups informed on anything that could affect the production, voracity, and availability of diagnostic testing. (more…)
UnitedHealthcare to cover Foundation Medicine’s comprehensive genomic profiling assay for solid tumors, but Medicare still reluctant to reimburse for genetic tests
Studies showing success of targeted therapies in cancer care may be having an influence on the decisions by certain health insurers to reimburse clinical laboratories to reimburse for certain genetic tests.
One example that press reports cite is how last December UnitedHealthcare began reimbursing for a certain genetic test for patients with a particular lung cancer, according to a statement from Foundation Medicine (NASDAQ:FMI). Based in Cambridge, Massachusetts, Foundation Medicine describes itself as “a molecular information company dedicated to a transformation in cancer care in which treatment is informed by a deep understanding of the genomic changes that contribute to each patient’s unique cancer.” (more…)
