Just as 23andMe, once direct-to-consumer (DTC) testing’s darling, faced a huge drop in share value and once hot startup LunaDNA was shuttering, Panacea was promoting its new DTC genetic testing service.
This might seem counter-intuitive, but consumer genetics is far from dead, even the DTC version.
Panacea, for example, says it has some new twists—including exome sequencing at an affordable price—that will make a big difference. And 23andMe isn’t giving up, rather they are forging ahead, with new offerings such as an updated BRCA1/BRCA2 test and a deeper push into drug discovery. CEO Anne Wojcicki, told CNN in February, “We’re making the necessary changes to make the business sustainable, and then it’s going to be about growing it again.”
Traditional genetic testing companies such as Ambry Genetics, Exact Sciences, and Helix are also steadily growing their offerings.
And it’s not genetics firms that are making this push. The wider business community is also seeing the value of genetic testing. Insurer MassMutual, for example, is expanding its groundbreaking partnership with Genomics plc to help more policyowners access genetic at-home risk assessments. The program uses mail-in swab tests to generate polygenic risk scores that gauge personalized risk for eight major diseases—atrial fibrillation, breast or prostate cancer, cardiovascular disease, high blood pressure, high low-density lipoprotein cholesterol, low bone density, and type 2 diabetes.
The two companies collaborated on an initial research project in which, 2023 results show, more than 70% of policyowners who elected to use the risk assessment service reported they intended to take preventative actions based on their risk scores, including plans to see their doctor or seek further screening.
That was enough to make it a win for the insurer, which aims to, “Support policy owners on their path to a healthy life by learning about their risks and making informed health choices,” said Sears Merritt, head of enterprise technology and experience, MassMutual in a press release.
But everyone in this field is trying to better understand consumers’ wants and needs, to increase testing rates.
It’s clear that a certain percent of the population are either eager for, or at least willing to participate, in genetic testing. But even testing for well known “risky” genes, such as BRCA1 and BRCA2, is below expectations, the CDC reports.
“If you ask, “What is your interest level in genetic testing,” you get fairly consistent results,” says “60–70% are very interested, 20% are in the middle, and 15% are at the bottom,” said James Lu, MD, PhD, CEO and co-founder of genetic testing company Helix.
So how can more patients be pulled in? This is more important than ever. “Up until now, genetic testing has been mainly confirmatory,” says Lu. “But in the future it will be that and more often preventative. We will increasingly see genomics at the front line.”
The 23andMe and LunaDNA setbacks definitely put a pall over the field. Early this year 23andMe was low on cash and its stock was worth pennies, business headlines blared. Around the same time LunaDNA, once heralded as “the world’s first member-owned data-sharing platform for health research,” closed at the end of January 2024 (Grinstein, Inside Precision Medicine, Jan. 2024). 23andMe’s value dropped a stunning 96% since its peak share price of $17.65 in February 2021. The funding was drying up and customers weren’t showing up in sufficient numbers.
But whether it’s a DTC approach or just following a traditional doctor’s order, the fact that lots of consumers are still shy of genetic testing is a hurdle the industry is taking head on.
Opening more minds expanding access
“Challenges in engaging consumers include patient concerns and hesitation around getting tested for potential hereditary cancer biomarkers. Some reasons may be more personal like fear or guilt, or general distrust of the medical community and new advances,” said Robert Pilarski, medical affairs director at Ambry Genetics, whose CancerNext and CancerNext-Expanded assays use next-generation sequencing to identify genetic variants associated with hereditary cancer syndromes.
Ambry recently launched the Inter-Organization Cancer Genetics Clinical Evidence Coalition (See INTERACT, sidebar) in April to increase access to genetic testing for people with, or at risk of, hereditary cancers.
Amy Curry Sturm of 23andMe said, “One hurdle is simply that not everyone knows the potential health benefits of genetic testing. There are many conditions for which you can reduce your risk, or prevent entirely, if you have your genetic information.”
She adds that, “Access is also an issue, especially for underrepresented populations, which is why we’ve conducted projects like our Global Genetics Project and African American Genetics.” Sturm is director of genomic health programs and medical affairs.
Finally there is the problem of follow-through with doctors orders. “That is no more or less important in genomics and should not be dealt with differently. If you refer someone for a genomic test, you must follow through and be sure patients get it,” says Lu.
Helix is pushing population health. They recently inked a partnership with Sanford Health, the largest rural health system in the United States. They are launching a new population genomics program that aims to enroll 100,000 participants, providing actionable, early, and preventive medical care insights for Sanford Health patients with Helix’s population genomics platform.
Another deal Helix has is with Cone Health, a not-for-profit healthcare network in the North Carolina Piedmont region, again for a population genomics testing program. The program will provide precision medicine in the Alamance, Forsyth, Guilford, Rockingham, and Randolph counties and beyond. The joint project will enroll 100,000 healthy people over a five-year period.
And, with the Medical University of South Carolina, Helix has launched a program called In Our DNA SC. This program is designed to improve healthcare outcomes by integrating genetic insights into clinical care and research. The statewide initiative will enroll 100,000 patients in genetic testing over the next four years at no cost to patients.Care providers and research teams will distribute a saliva test to patients at community events throughout the state. Participants will also have the option to have a saliva test kit mailed directly to their home.
New angles on the DTC model
Currently, 23andMe offers reports on genetic health risks someone may have, or may pass down to children, along with how your DNA may impact everyday lifestyle factors, such as food preferences, allergies, and much more. But the company also conducts genetic research, sometimes with academic and pharmaceutical collaborators. “The goal of our research is to uncover the genetics of health conditions, including disease, in the hopes there may one day be treatments for serious unmet medical needs,” said Sturm.
She explained, “Our research program is driven by our customers, who have the option to participate. If they choose, to opt-in to our research program, which is overseen by an independent Institutional Review Board, the gold standard of oversight of the research we conduct.”
The results are encouraging, “We find about 80% of our customers choose to participate and drive research forward so that we may find novel genetic insights, and hopefully treatments for disease,” she said.
The company has produced more than 250 publications, including the largest to-date genetic study of Parkinson’s disease (Kim et al. Nature Genetics, 2022), genetic and phenotypic associations for COVID-19 (23andMe Blog, Sept. 9, 2020), along with current studies on sickle cell trait, rare disease, and more.
Panacea, meanwhile, is trying to bring something new to the market.
Panacea is using whole exome sequencing (WES), where other DTC firms use genotyping. WES covers every currently known human gene. Through partnerships with CLIA and CAP-certified genetic laboratories and trained genetic counselors and medical doctors, the company says it is able to offer services under $1,000. Customers are also provided a session with a genetic counselor to discuss results and whether any proactive healthcare decisions should be considered. Further, besides the current reports they receive, customers can request their raw data (for free) to continually analyze their data as the science progresses.
“I had my own exome sequenced with Panacea, even though I was not a candidate for testing based on today’s medical guidelines. I found out my sister and I both had a mutation that increases our risk for ovarian cancer,” said Founder and CEO of Panacea, Dahlia Attia-King.
“I was able to make proactive decisions about my healthcare that may end up saving my life. This further inspired me to make clinical-grade whole exome sequencing more accessible, so everyone can make informed decisions about their future.”
Attia-King said, “A lot of companies in this space have been delivering a square peg to a round hole.” By addressing the accuracy of the technology, and making the process easier to navigate, Panacea hopes to succeed.
Bringing physicians and patients along
Crucial to advancing consumer engagement is educating patients and providers to ensure clinicians know what they should be offering patients, and that patients understand what the testing means to them and their families.
One of the companies at the vanguard of traditional genetic testing is Exact Sciences. Their first product was Cologuard, which is a colon cancer screening test that received FDA approval in 2014. The company’s portfolio has since expanded to include Oncotype DX tests, which provide genetic data about breast cancer tumors that helps guide treatment. Most recently, Exact Science announced (Feb. 2024) Riskguard, which includes gene specific and familial risks for 10 common cancers.
Exact Sciences acquired PreventionGenetics, a genetic testing laboratory in 2022, with the goal of complementing its advanced cancer diagnostics portfolio and supporting its entrance into hereditary cancer testing. As Exact does,
PreventionGenetics requires that a healthcare provider order the test, so they’re generally ordering it for a patient who’s suspected of having a genetic disease or a cancer with a potential marker.
“Our test offerings are broad and comprehensive: Essentially any known genetic condition that someone is suspected of having, we’re able to test for it,” said Robert Steiner, MD, chief medical officer, PreventionGenetics.
One of the challenges is how fast genomics is advancing. The field of genomics is moving at lightning speed, with new knowledge gained every day, so we are constantly reviewing and updating our tests when we learn about new disease-causing variants and genes. We also comb the published medical literature to find new articles reporting gene-disease associations and gene variant disease associations,” he said.
Based on the new information, genes are added to multi-gene or genome-wide tests, or sometimes removed as it becomes clear that a previous gene-disease association is not valid. The information on variants is also incorporated into their expert review of patient test results both in software that assists in test review and databases that we used for reporting test results.
Getting useful genetic information to consumers in wealthy nations is one thing, Genetic Alliance has an even more ambitious goal, to bring genetic testing to patients, whether they can pay or not, around the globe.
“iHope was born at Illumina about 10 years ago,” explains Sharon Terry, CEO of Genetic Alliance. The program has sequenced more than 1,000 people from 24 clinical sites around the world. Genetic Alliance is now expanding the program and renaming it iHope Genetic Health. Participating clinics are in lower-middle-income economies ($1,006 to $3,955 GNI per capita), and they get no cost whole genome screening for kids that are undiagnosed and have a suspected genetic cause for their symptoms.
“This is a clinical program, not a research program. If parents opt to make the data available then it will be available to researchers in the usual repositories,” she said.
Terry points out that genomic testing has been integrated into clinical practice more quickly than almost any innovation in recent history. Still, such testing has been almost entirely restricted to developed nations, leaving hundreds of millions without access to genomic medicine among under-represented communities.
So what’s standing between patients and genetic testing?
As Steiner points out, there are some practical issues. “It can take up to seven years for a person with a rare disease to get diagnosed. Healthcare professionals are not always up to speed on the latest recommendations for genetic testing.”
But he, and many others, still see two major obstacles, first, “Many people who would benefit from genetic and genomic testing simply are not tested due to real or perceived challenges with reimbursement, as nobody wants to be left with medical bills to pay out of pocket,” he said. Insurance companies and government programs— e.g. Medicaid and Medicare—often have restrictive policies that do not support reimbursement for some genetic tests.
And then, there is the big one, he added, “The main obstacle to genetic testing is access to the tests.”
Malorye Branca is a contributing editor at Inside Precision Medicine and a freelance medical science journalist. She has written hundreds of articles, as well as managed and launched health and science magazines, newsletters, and market research report businesses. She has also co-authored two books: “Moneyball Medicine” and “Walmart’s Second Opinion.”
