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.
As demand for DTC at-home genetic testing increases among consumers and healthcare professionals, clinical laboratories that offer similar assays may want to offer their own DTC testing program
Things are happening in the direct-to-consumer (DTC) medical laboratory testing market. Prior to the pandemic, the number of consumers interested in ordering their own diagnostic tests grew at a rapid rate. The SARS-CoV-2 outbreak, however, and the need for consumers to access COVID-19 tests, caused DTC test sales to skyrocket.
One company benefiting from the DTC trend is New York City-based LetsGetChecked. In March, it announced its acquisition of Veritas Genetics which included that company’s Veritas Intercontinental business division. No purchase price was disclosed.
LetsGetChecked describes itself as a “virtual care company that allows customers to manage their health from home, providing direct access to telehealth services, pharmacy, and [clinical] laboratory tests with at-home sample collection kits for a wide range of health conditions,” according to the company’s LinkedIn page.
“Through these acquisitions, LetsGetChecked will leverage the power of whole genome sequencing to launch a full lifecycle of personalized healthcare, delivering the most comprehensive health testing and care solution on the market,” said Peter Foley, Founder and CEO of LetsGetChecked in a press release.
“By integrating Veritas Genetics’ and Veritas Intercontinental’s capabilities with LetsGetChecked’s scalable diagnostic and virtual care infrastructure, we are able to turn comprehensive genetic insights into practical recommendations and lifestyle changes, guided by clinical experts,” he added.
“Our mission to deliver the benefits of whole genome sequencing to millions of individuals continues as part of the LetsGetChecked family. I am particularly excited about the opportunity to combine genetic testing with the broad spectrum of virtual and at-home care models offered by LetsGetChecked. I expect these acquisitions will change the future of personalized healthcare as we know it,” said geneticist George Church, PhD, co-founder of Veritas Genetics, and Professor of Health Sciences and Technology at Harvard and MIT, in a press release. (Photo copyright: Wyss Institute at Harvard University.)
Leveraging the Power of Whole Genome Sequencing
To date, LetsGetChecked claims it has delivered nearly three million at-home direct-to-consumer tests and served more than 300 corporate customers with testing services and biometric screening solutions since its founding in 2015.
The company focuses on manufacturing, logistics, and lab analysis in its CAP-accredited, CLIA-certified laboratory in Monrovia, Calif., as well as physician support, and prescription fulfillment. The DTC company’s products include at-home tests for women’s health, men’s health, basic wellness, sexual health, and SARS-CoV-2 testing.
Veritas Genetics also was a DTC testing company co-founded by internationally-known geneticist George Church, PhD. In 2016, the company announced it would deliver a whole human genome sequence (WGS) for just $999—breaking the $1,000 cost barrier for whole genome sequencing.
“There is no more comprehensive genetic test than your whole genome,” Rodrigo Martinez, former Veritas Chief Marketing and Design Officer, told CNBC. “So, this is a clear signal that the whole genome is basically going to replace all other genetic tests. And this [price drop] gets it closer and closer and closer.”
That market strategy did not succeed. By the end of 2019, the company announced it would cease operations in the United States but continue operations in Europe and Latin America. It has sought a buyer for the company since that time. Now, almost three years later, LetsGetChecked will become the new owner of Veritas Genetics.
Veritas’ primary product, myGenome was launched in 2018 as a whole genome sequencing and interpretation service to help consumers improve their health and increase longevity. The myGenome test screens for and provides insight on many hereditary diseases such as cancer, cardiovascular disease, and neurological disorders. It also provides observations on more than 50 personal traits and ancestry information.
In addition to bringing whole genome sequencing abilities to its test offerings for consumers, LetsGetChecked hopes the acquisitions will create new testing capabilities such as pharmacogenomics, cancer and viral screenings, and maternal fetal screenings.
“By integrating Veritas Genetics’ and Veritas Intercontinental’s genetics offering with our scalable virtual care infrastructure, we are able to leverage the power of whole genome sequencing to launch a full lifecycle of personalized healthcare, which has always been our goal,” Foley told MobiHealthNews.
Veritas Genetics and Veritas Intercontinental will continue to operate under the LetsGetChecked family of companies.
BioIQ also Acquired by LetsGetChecked
In early May, LetsGetChecked also acquired diagnostic testing and health improvement technology company BioIQ, which will continue to operate as a wholly-owned subsidiary.
BioIQ offers at-home tests, health screenings, and vaccinations to consumers. The company’s products include:
Heart health panel,
Lipid panel,
Respiratory panel,
Prevention panel, and
Wellness panel.
Individual tests offered by BioIQ include:
A1C,
COVID-19,
Hepatitis C test and
Sexually transmitted diseases.
BioIQ also offer e-vouchers for health screenings and vaccinations at participating retail pharmacies, clinical laboratories, and physician’s offices.
“The future of healthcare is in providing high-quality at-home diagnostics and care that comprehensively serve an individual’s health needs throughout their whole life,” said Foley in a press release about the BioIQ acquisition. “With this acquisition, LetsGetChecked gains a trusted partner with an extensive knowledge base and a breadth of experience in serving health plans and employer markets to deliver healthcare solutions at scale.”
These acquisitions by LetsGetChecked demonstrate how genetic testing companies are pivoting to new strategies. Clinical laboratories that perform genetic testing will want to monitor how these partnerships unfold in the future as healthcare consumers and providers continue to embrace at-home genetic testing.
Low prices to encourage consumers to order its WGS service is one way Veritas co-founder and genetics pioneer George Church hopes to sequence 150,000 genomes by 2021
By announcing an annotated whole-genome sequencing (WGS) service to consumers for just $599, Veritas Genetics is establishing a new price benchmark for medical laboratories and gene testing companies. Prior to this announcement in July, Veritas priced its standard myGenome service at $999.
“There is no more comprehensive genetic test than your whole genome,” Rodrigo Martinez, Veritas’ Chief Marketing and Design Officer, told CNBC. “So, this is a clear signal that the whole genome is basically going to replace all other genetic tests. And this [price drop] gets it closer and closer and closer.”
Pathologists and clinical laboratory managers will want to watch to see if Veritas’ low-priced, $599 whole-genome sequencing becomes a pricing standard for the genetic testing industry. Meanwhile, the new price includes not only the sequencing, but also an expert analysis of test results that includes information on more than 200 conditions, Veritas says.
“The focus in our industry is shifting from the cost of sequencing genomes to interpretation capabilities and that’s where our secret sauce is,” said Veritas CEO Mirza Cifric in a news release. “We’ve built and deployed a world class platform to deliver clinically-actionable insights at scale.” The company also says it “achieved this milestone primarily by deploying internally-developed machine learning and AI [artificial intelligence] tools as well as external tools—including Google’s DeepVariant—and by improving its in-house lab operations.”
The myGenome service offers 30x WGS, which Veritas touts in company documentation as the “gold standard” for sequencing, compared to the less-precise 0.4x WGS.
The myGenome service is available only in the United States.
Will Whole-Genome Sequencing Replace Other Genetic Tests?
Veritas was co-founded by George Church, PhD, a pioneer of personal genomics through his involvement with the Harvard Personal Genome Project at Harvard Medical School. In a press release announcing the launch of myGenome in 2016, Veritas described its system as “the world’s first whole genome for less than $1,000, including interpretation and genetic counseling.”
Church predicts that WGS will someday replace other genetic tests, such as the genotyping used by personal genomics and biotechnology company 23andMe.
“Companies like 23andMe that are based on genotyping technology basically opened the market over the last decade,” Martinez explained in an interview with WTF Health. “They’ve done an incredible job of getting awareness in the general population.”
However, he goes on to say, “In genotyping technology, you
are looking at very specific points of the genome, less than half of one
percent, a very small amount.”
Martinez says Veritas is sequencing all 6.4 billion letters
of the genome. And, with the new price point, “we’re closer to realizing that
seismic shift,” he said in the news release.
“This is the inflection point,” Martinez told CNBC.
“This is the point where the curve turns upward. You reach a critical mass when
you are able to provide a product that gives value at a specific price point.
This is the beginning of that. That’s why it’s seismic.”
Rodrigo Martinez (above), Veritas’ Chief Marketing and Design Officer, told CNBC, “The only way we’re going to be able to truly extract the value of the genome for a healthier society is going to be analyzing millions of genomes that have been sequenced. And the only way we can get there is by reducing the price so that more consumers can sequence their genome.” Photo copyright: Twitter.)
Payment Models Not Yet Established by Government, Private
Payers
However, tying WGS into personalized medicine that leads to actionable diagnoses may not be easy. Robin Bennett, PhD (hon.), a board certified senior genetic counselor and Professor of Medicine and Medical Genetics at UW School of Medicine, told CNBC, “[Healthcare] may be moving in that direction, but the payment for testing and for services, it hasn’t moved in the preventive direction. So, unless the healthcare system changes, these tests may not be as useful because … the healthcare system hasn’t caught up to say, ‘Yes, we support payment for this.’”
“Insurers are looking for things where, if you get the
information, there’s something you can do with it and that both the provider
and the patient are willing and able to use that information to do things that
improve their health,” Phillips told CNBC. “Insurers are very interested
in using genetic testing for prevention, but we need to . . . demonstrate that
the information will be used and that it’s a good trade-off between the
benefits and the costs.”
Sequencing for Free If You Share Your Data
Church may have an answer for that as well—get biopharmaceutical companies to foot the bill. Though Veritas’ new price for their myGenome service is significantly lower than before, it’s not free. That’s what Nebula Genomics, a start-up genetics company in Massachusetts co-founded by Church, offers people willing to share the data derived from their sequencing. To help biomedical researchers gather data for their studies, Nebula provides free or partially-paid-for whole-genome sequencing to qualified candidates.
“Nebula will enable individuals to get sequenced at much
lower cost through sequencing subsidies paid by the biopharma industry,” Church
told BioSpace.
“We need to bring the costs of personal genome sequencing close to zero to
achieve mass adoption.”
So, will lower-priced whole-genome sequencing catch on?
Perhaps. It’s certainly popular with everyday people who want to learn their
ancestry or predisposition to certain diseases. How it will ultimately affect
clinical laboratories and pathologists remains to be seen, but one thing is
certain—WGS is here to stay.
