Citizens claiming racial diversity increased by 276% in the 2020 census, leading experts to wonder if racial diversity is increasing or if people are simply electing to identify as such and how this trend will affect healthcare
Once again, we see another unexpected consequence to expanded DNA testing done by consumers for their own interests and needs. As NPR recently reported in “The Census Has Revealed a More Multiracial US. One Reason? Cheaper DNA Tests,” the growing trend of ordering low-cost direct-to-consumer (DTC) genetic testing to identify cultural heritage (where a family came from) and genealogy (to connect with extant family members) has educated healthcare consumers more about their cultural roots.
Such knowledge, NPR speculates, is allowing people to complete their census survey with more accurate “heritage” classifications.
The last US census showed an interesting change compared to previous census surveys. More Americans identified themselves as racially diverse than in previous censuses. Scientists in multiple specialty areas—including demographics, sociology, genetics, and more—are asking why.
According to federal Census Bureau data, in the most recent census, people who identify as more than one race rose by 276%! Scientists are only just beginning to hypothesize the reasons for this increase, but three potential factors, NPR reported, have emerged:
More children are being born to parents who identify with racial groups that are different from one another.
People are reconsidering what they want the government to know about their identities, according to Duke University Press.
The increased incidence of DNA testing for cultural heritage may be an additional factor in the different ways people identified themselves during the census, driving its popularity, NPR noted. More people are purchasing at-home DNA tests to learn where their ancestors lived and came from, and their family’s genealogy.
“Exactly how big of an effect these tests had on census results is difficult to pin down,” NPR reported. “But many researchers agree that as the cost of at-home kits fell in recent years, they have helped shape an increasing share of the country’s ever-changing ideas about the social construct that is race.”
How the Census Alters Government Policy
Pew Research noted that, although only about 16% of Americans have taken an ancestry DNA test, the marketing efforts of “companies such as 23andMe and Ancestry.com, which operates the AncestryDNA service, should not be underestimated,” NPR reported. They have a wide reach, and those efforts could be impacting how people think about race and ethnic identity.
For most of human history, social experience and contemporary family history have been the drivers of how people identified themselves. However, low-cost DTC genetic testing may be changing that.
“The public has kind of taken in the notion that you can find out ‘who you are’ with a test that’s supposed to analyze your genes,” Jenifer Bratter, PhD (above), a Professor of Sociology at Rice University who studies multiracial identity, told NPR. “What that does for anyone who does work in racial identity and racial demography is cause us to think through how genetic ideas of race are in public circulation.” Desire by healthcare consumers to know their risk for chronic disease has already driven a marked increase in demand for low-cost DNA testing, which has also affected the types of test orders clinical laboratory are receiving from doctors. (Photo copyright: Rice University.)
One concern that sociologists and demographers have about this trend is that the US census is an important tool in policy, civil rights protections, and even how researchers measure things like healthcare access disparities.
“You’re going to have a lot more people who are not part of marginalized groups in terms of their social experiences claiming to be part of marginalized groups. When it comes to understanding discrimination or inequality, we’re going have very inaccurate estimates,” says Wendy Roth, PhD, Associate Professor of Sociology, University of Pennsylvania, told NPR.
They developed the “genetic options” theory, “to account for how genetic ancestry tests influence consumers’ ethnic and racial identities.” They wrote, “The rapid growth of genetic ancestry testing has brought concerns that these tests will transform consumers’ racial and ethnic identities, producing “geneticized” identities determined by genetic knowledge.”
However, a more healthcare-related motivation for taking a DTC DNA test is to learn about one’s potential risks for familial chronic health conditions, such as cancer, heart disease, and diabetes, etc.
“Whether that occurs through your primary care doctor, your large integrated health network, or your payor, I think there will be profound changes in society’s tolerance for using genetics for prevention,” he told GenomeWeb.
Regardless, as Dark Daily reported in 2020, sales of genetic tests from Ancestry and 23andMe show the market is cooling. Thus, with less than 20% of the population having taken DNA tests, and with sales slowing, genetics testing may not affect responses on the next US census, which is scheduled for April 1, 2030.
In the meantime, clinical laboratory managers should recognize how and why more consumers are interested in ordering their own medical laboratory tests and incorporate this trend into their lab’s strategic planning.
Faulkner was surpassed on Forbes’ list only by roofing material magnate Diane Hendricks, co-founder of ABC Supply Co., whose net worth of $11 billion puts her squarely in the top spot.
Richest Self-Made Women in Healthcare
Becker’s Hospital Review highlighted the seven richest “self-made” women who ran healthcare-related companies. They include:
Judith Faulkner, founder and CEO of Epic, ranked 2nd, net worth $6.5 billion.
Alice Schwartz, co-founder of Bio-Rad Laboratories, ranked 10th, net worth $2.9 billion.
Heather Hasson and Trina Spear, co-founders and co-CEOs of FIGS (direct-to-consumer healthcare apparel and scrubs), ranked 50th and 52nd, net worth $625 million and $600 million respectively.
Also listed by Forbes was Anne Wojcicki, CEO and founder of 23andMe, a personal genomics and biotechnology company. Wojcicki’s net worth of $1.1 billion puts her in the 25th position, according to Forbes.
In “Genetic Test Company 23andMe Completes Merger with Richard Branson’s VG Acquisition Corp., Stock Now Trades on NASDAQ,” Dark Daily noted that since the Sunnyvale, Calif. direct-to-consumer (DTC) genetic testing company will now be filing quarterly earnings reports, pathologists and clinical laboratory managers will have the opportunity to learn more about how 23andMe serves the consumer market for genetic types and how it is generating revenue from its huge database containing the genetic sequences from millions of people.
Judith Faulkner (left), founder and CEO of Epic Systems Corp., and Alice Schwartz (right), co-founder of Bio-Rad Laboratories, ranked 2nd and 10th respectively in Forbes’ list of the top 100 richest self-made women. In healthcare, Faulkner ranks 1st and Schwartz 2nd. Clinical laboratory personnel will likely be familiar with Epic Beaker, which, according to Healthcare IT Leaders, “is Epic’s laboratory information system (LIS) for hospitals, clinics, patient service centers, and reference labs. The software supports common workflows for clinical pathology (CP) labs as well as anatomic pathology (AP) labs.” (Photo copyrights: HIT Consultant/Science History Institute.)
“I always liked making things out of clay. And the computer was clay of the mind. Instead of physical, it was mental,” Faulkner, who is 77, told Forbes.
Company milestones noted by Forbes include:
Inking a deal in 2004 with Kaiser Permanente for a three-year, $400-million project.
Moving in 2005 to a corporate campus in southern Wisconsin—an “adult Disney World” with the largest underground auditoriums and more “fantastical” buildings.
More recently, AdventHealth of Altamonte Springs, Fla., contracted with Epic for a $650 million remote build and installation.
“Epic’s system has tentacles that go out through amazing networks. You can actually help a person get the care they need wherever they need to get it,” AdventHealth’s CEO Terry Shaw told Forbes.
“I think that what will happen is that a few of them will do very well. And the majority of them won’t. “It’s not us as much as the health systems who have to respond to the patient saying, ‘Send my data here,’ or ‘Send my data there,’” Faulkner told Forbes.
Bio-Rad’s Alice Schwartz an IVD ‘Pioneer’
As Faulkner rose to prominence in healthcare IT, Alice Schwartz of Bio-Rad Laboratories found massive success in the in vitro diagnostics industry.
She and her late husband, David, started Bio-Rad with $720 in 1952 in Berkeley, Calif. They were intent on offering life science products and services aimed at identifying, separating, purifying, and analyzing chemical and biological materials, notes the company’s website.
“They were at the right place and at the right time as they became pioneers in the industry,” International Business Times (IBT) stated.
Bio-Rad Laboratories (NYSE:BIO and BIOb) of Hercules, Calif., offers life science research and clinical diagnostic products. The company’s second quarter (Q2) 2021 net sales were $715.9 million, an increase of about 33% compared to $536.9 million in Q2 2020, according to a news release. Its Clinical Diagnostics segment Q2 sales were $380 million, an increase of 34% compared to 2020.
Norman Schwartz, the founders’ son, is Bio-Rad’s Chairman of the Board,
President, and CEO. However, at age 94, Alice Schwartz, the oldest person on Forbes’ richest self-made women list, “has no sign of stopping soon,” IBT reported.
Lists are fun. Medical laboratory and diagnostics professionals may admire such foresight and perseverance. Judith Faulkner and Alice Schwartz are extraordinary examples of innovative thinkers in healthcare. There are others—many in clinical laboratories and pathology groups.
23andMe executives say they plan to leverage their database of millions of customer genotypes ‘tohelp accelerate personalized healthcare at scale,’ a key goal of precision medicine
In what some financial analysts believe may be an indication that popularity of direct-to-consumer (DTC) genetic testing among customers who seek info on their ethnic background and genetic predisposition to disease is waning, personal genomics/biotechnology company 23andMe announced it has completed its merger with Richard Branson’s VG Acquisition Corp. (NYSE:VGAC) and is now publicly traded on NASDAQ.
According to a 23andMe news release, “The combined company is called 23andMe Holding Co. and will be traded on The Nasdaq Global Select Market (“NASDAQ”) beginning on June 17, 2021, under the new ticker symbol ‘ME’ for its Class A Common shares and ‘MEUSW’ for its public warrants.”
Now that it will file quarterly earnings reports, pathologists and clinical laboratory managers will have the opportunity to learn more about how 23andMe serves the consumer market for genetic types and how it is generating revenue from its huge database containing the genetic sequences from millions of people.
After raising $600 million and being valued at $3.5 billion, CNBC reported that 23andMe’s shares rose by 21% during its first day of trading.
“23andMe is more than just a genetics company. We are an activist brand that is approaching healthcare and drug discovery with the individual at the center, as our partner,” said Anne Wojcicki (above), 23andMe’s co-founder and Chief Executive Officer, during remarks she gave after ringing the opening bell on the company’s first day of public trading, a 23andMe blog post noted. “We are going to continue pioneering a consumer-centered personalized healthcare world. We are going to show that drug discovery can be more efficient when you start with a human genetic insight,” she continued. (Photo copyright: TechCrunch.)
Might the quick rise in its stock price be a sign that 23andMe—with its database of millions of human genotypes—has found a lucrative path forward in drug discovery?
23andMe says that 80% of its 10.7 million genotyped customers have consented to sharing their data for research, MedCity News reported, adding that, “The long-term focus for 23andMe still remains using all of its accumulated DNA data to strike partnerships with pharmaceutical companies.”
Time for a New Direction at 23andMe
While 23andMe’s merger is a recent development, it is not a surprising direction for the Sunnyvale, Calif.-based company, which launched in 2006, to go.
Even prior to the COVID-19 pandemic, both 23andMe and its direct competitor Ancestry had experienced a decline in direct-to-consumer testing sales of at-home DNA and genealogy test kit orders. This decline only accelerated during the pandemic.
Meanwhile, 23andMe Therapeutics, a division focused on research and drug development, has been on the rise, Bloomberg News reported. On its website, 23andMe said it has ongoing studies in oncology, respiratory, and cardiovascular diseases.
“It’s kind of an ideal time for us,” Wojcicki told Bloomberg News.
“There are huge growth opportunities ahead,” said Richard Branson, founder of the Virgin Group, which sponsors the special-purpose acquisition company (SPAC) VG Acquisition Corp., in the 23andMe news release.
In a VG Acquisition Corp. news release, Branson said, “Of the hundreds of companies we reviewed for our SPAC, 23andMe stands head and shoulders above the rest.”
“As an early investor, I have seen 23andMe develop into a company with enormous growth potential. Driven by Anne’s vision to empower consumers, and with our support, I’m excited to see 23andMe make a positive difference to many more people’s lives,” he added.
Report Bullish on Consumer Genetic Testing
Despite the apparent saturation of the direct-to-consumer (DTC) genetic testing market, and consumers’ concerns about privacy, Infiniti Research reported that worldwide sales of DTC tests “are poised to grow by $1.39 bn during 2021-2025, progressing at a CAGR [compound annual growth rate] of over 16% during the forecast period.”
“This study identifies the advances in next-generation genetic sequencing as one of the prime reasons driving the direct-to-consumer genetic testing market growth during the next few years. Also, reduction in the cost of services and growing adoption of online service platforms will lead to sizable demand in the market,” the report states.
Clinical laboratory leaders will want to stay abreast of 23andMe rise as a publicly-traded company. It will be interesting to see if Wojcicki’s vision about moving therapies into clinics in five years comes to fruition.
The merger is expected to boost investment in 23andMe’s consumer health and therapeutics businesses
After years of spectacular growth, the popularity of direct-to-consumer (DTC) genetic testing is beginning to wane. Nevertheless, opportunities still exist in the DTC genetic testing market for visionaries with funds to invest.
One such visionary is billionaire Richard Branson, founder of the multinational venture capital conglomerate Virgin Group (VG). Branson’s VG Acquisition Corp. (NYSE:VGAC), a special purpose acquisition company (SPAC), announced it is merging with 23andMe of Sunnyvale, Calif., to create a publicly-traded company with the New York Stock Exchange ticker symbol ME.
In a VG press release, Branson states his reason for the merger. “Of the hundreds of companies we reviewed for our SPAC, 23andMe stands head and shoulders above the rest,” he said. “As an early investor, I have seen 23andMe develop into a company with enormous growth potential. Driven by [CEO Anne Wojcicki’s] vision to empower consumers, and with our support, I’m excited to see 23andMe make a positive difference to many more people’s lives.”
According to a 23andMe press release, the deal values the company at approximately $3.5 billion and will net the consumer genetics and research company as much as $759 million in additional cash. Wojcicki and Branson each invested $25 million themselves as part of the $250 million fund to take the company public.
“As a fellow industry disruptor as well as an early investor in 23andMe, we are thrilled to partner with Sir Richard Branson and VG Acquisition Corp. as we approach the next phase of our business, which will create new opportunities to revolutionize personalized healthcare and medicine,” 23andMe co-founder and CEO Anne Wojcicki (above) said in the press release. “We have always believed that healthcare needs to be driven by the consumer, and we have a huge opportunity to help personalize the entire experience at scale, allowing individuals to be more proactive about their health and wellness. Through a genetics-based approach, we fundamentally believe we can transform the continuum of healthcare.” (Photo copyright: Inc. magazine.)
Participation in Research Key to Future of DTC Genetics Testing
Though DTC genetic testing kit sales have slowed in recent years for both 23andMe and rival Ancestry, Wojcicki believes the company’s database of 10 million customers—with 80% of customers agreeing to participate in research—is the key to its future.
“We have always seen health as a much bigger opportunity” than genealogy, Wojcicki told The Wall Street Journal (WSJ).
According to the WSJ, 23andMe customers fill out more than 30,000 surveys each day on health and related issues. With that information, the company has determined its database includes 1.7 million people with high cholesterol, nearly 1.6 million with depression and 539,000 with Type 2 diabetes, information that is highly valued by medical researchers and those running clinical trials.
Personalizing Healthcare through DTC Genetic Testing
Wojcicki expects the merger will propel the consumer DNA-testing company into personalized medicine and therapeutics. “We have always believed that healthcare needs to be driven by the consumer, and we have a huge opportunity to help personalize the entire experience at scale, allowing individuals to be more proactive about their health and wellness,” Wojcicki said in a statement. “Through a genetics-based approach, we fundamentally believe we can transform the continuum of healthcare.”
In August 2020, the US Food and Drug Administration “granted 23andMe a 510(k) clearance for a pharmacogenetics report on two medications—Clopidogrel, prescribed for certain heart conditions, and Citalopram, which is prescribed for depression,” 23andMe announced in a blog post.
“This impactful pharmacogenetics information can now be delivered without the need for confirmatory testing, a testament to the clinical validity of 23andMe results,” said Kathy Hibbs, 23andMe Chief Legal and Regulatory Officer, in the blog post. “23andMe remains the only company with direct-to-consumer pharmacogenetic reports cleared by the FDA.”
23andMe’s trove of genetic data already has netted it a partnership with GlaxoSmithKline (GSK). According to a GSK press release, in 2018, the two companies signed a four-year research and development agreement. The collaboration targets novel medicines and potential cures using human genetics as the basis for discovery.
COVID-19 Boosts 23andMe’s Sales
During a joint interview with Branson in Bloomberg News about the merger, Wojcicki said, “COVID-19 has really opened up doors.” Now more than ever, she said, people are interested in preventative healthcare. “I’ve had this dream since 2003 that genetics would revolutionize healthcare and that’s really the era I see we can now usher in,” she added.
As 23andMe pushes further into personalized therapeutics, clinical laboratories and pathology groups would be wise to watch and see if this new entrant accelerates healthcare’s shift to the precision medicine model of personalized care.
Results of the UK study confirm for clinical laboratory professionals the importance of fully understanding the design and function of SNP chips they may be using in their labs
Here is another example of a long-established clinical laboratory test that—upon new evidence—turns out to be not as accurate as once thought. According to research conducted at the University of Exeter in Devon, UK, Single-nucleotide polymorphism (SNP) chips (aka, SNP microarrays)—technology commonly used in commercial genetic testing—is inadequate at detecting rare gene variants that can increase breast cancer risk.
A news release announcing the results of the large-scale study states, “A technology that is widely used by commercial genetic testing companies is ‘extremely unreliable’ in detecting very rare variants, meaning results suggesting individuals carry rare disease-causing genetic variants are usually wrong.”
Why is this a significant finding for clinical laboratories? Because medical laboratories performing genetic tests that use SNP chips should be aware that rare genetic variants—which are clinically relevant to a patient’s case—may not be detected and/or reported by the tests they are running.
UK Researchers Find ‘Shockingly High False Positives’
The conclusion reached by the Exeter researchers, the BMJ study states, is that “SNP chips are extremely unreliable for genotyping very rare pathogenic variants and should not be used to guide health decisions without validation.”
Leigh Jackson, PhD, Lecturer in Genomic Medicine at University of Exeter and co-author of the BMJ study, said in the news release, “The number of false positives on rare genetic variants produced by SNP chips was shockingly high. To be clear: a very rare, disease-causing variant detected using [an] SNP chip is more likely to be wrong than right.”
In the news release, Caroline Wright, PhD (above), Professor in Genomic Medicine at the University of Exeter Medical School and senior author of the BMJ study, said, “SNP chips are fantastic at detecting common genetic variants, yet we have to recognize that tests that perform well in one scenario are not necessarily applicable to others.” She added, “We’ve confirmed that SNP chips are extremely poor at detecting very rare disease-causing genetic variants, often giving false positive results that can have profound clinical impact. These false results had been used to schedule invasive medical procedures that were both unnecessary and unwarranted.” (Photo copyright: University of Exeter.)
Large-Scale Study Taps UK Biobank Data
The Exeter researchers were concerned about cases of unnecessary invasive medical procedures being scheduled by women after learning of rare genetic variations in BRCA1 (breast cancer type 1) and BRCA2 (breast cancer 2) tests.
“The inherent technical limitation of SNP chips for correctly detecting rare genetic variants is further exacerbated when the variants themselves are linked to very rare diseases. As with any diagnostic test, the positive predictive value for low prevalence conditions will necessarily be low in most individuals. For pathogenic BRCA variants in the UK Biobank, the SNP chips had an extremely low positive predictive value (1-17%) when compared with sequencing. Were these results to be fed back to individuals, the clinical implications would be profound. Women with a positive BRCA result face a lifetime of additional screening and potentially prophylactic surgery that is unwarranted in the case of a false positive result,” they wrote.
Using UK Biobank data from 49,908 participants (55% were female), the researchers compared next-generation sequencing (NGS) to SNP chip genotyping. They found that SNP chips—which test genetic variation at hundreds-of-thousands of specific locations across the genome—performed well when compared to NGS for common variants, such as those related to type 2 diabetes and ancestry assessment, the study noted.
“Because SNP chips are such a widely used and high-performing assay for common genetic variants, we were also surprised that the differing performance of SNP chips for detecting rare variants was not well appreciated in the wider research or medical communities. Luckily, we had recently received both SNP chip and genome-wide DNA sequencing data on 50,000 individuals through the UK Biobank—a population cohort of adult volunteers from across the UK. This large dataset allowed us to systematically investigate the performance of SNP chips across millions of genetic variants with a wide range of frequencies, down to those present in fewer than 1 in 50,000 individuals,” wrote Wright and Associate Professor of Bioinformatics and Human Genetics at Exeter, Michael Weedon, PhD, in a BMJ blog post.
The Exeter researchers also analyzed data from a small group of people in the Personal Genome Project who had both SNP genotyping and sequencing information available. They focused their analysis on rare pathogenic variants in BRCA1 and BRCA2 genes.
The researchers found:
The rarer the variant, the less reliable the test result. For example, for “very rare variants” in less than one in 100,000 people, 84% found by SNP chips were false positives.
Low positive predictive values of about 16% for very rare variants in the UK Biobank.
Nearly all (20 of 21) customers of commercial genetic testing had at least one false positive rare disease-causing variant incorrectly genotyped.
SNP chips detect common genetic variants “extremely well.”
Advantages and Capabilities of SNP Chips
Compared to next-gen genetic sequencing, SNP chips are less costly. The chips use “grids of hundreds of thousands of beads that react to specific gene variants by glowing in different colors,” New Scientist explained.
Common variants of BRCA1 and BRCA2 can be found using SNP chips with 99% accuracy, New Scientist reported based on study data.
However, when the task is to find thousands of rare variants in BRCA1 and BRCA2 genes, SNP chips do not fare so well.
“It is just not the right technology for the job when it comes to rare variants. They’re excellent for the common variants that are present in lots of people. But the rarer the variant is, the less likely they are to be able to correctly detect it,” Wright told CNN.
SNP chips can’t detect all variants because they struggle to cluster needed data, the Exeter researchers explained.
“SNP chips perform poorly for genotyping rare genetic variants owing to their reliance on data clustering. Clustering data from multiple individuals with similar genotypes works very well when variants are common,” the researchers wrote. “Clustering becomes more difficult as the number of people with a particular genotype decreases.”
Clinical laboratories Using SNP Chips
The researchers at Exeter unveiled important information that pathologists and medical laboratory professionals will want to understand and monitor. Cancer patients with rare genetic variants may not be diagnosed accurately because SNP chips were not designed to identify specific genetic variants. Those patients may need additional testing to validate diagnoses and prevent harm.
