NEW YORK (GenomeWeb) – As soon as next year, individuals who have had exome sequencing from a company called Helix but deemed at low risk for cardiovascular disease or cancer will be able to use an app to get information about their genetic risks for these diseases from molecular testing firm Invitae.
Helix, which launched last year with backing from Illumina, Warburg Pincus, and Sutter Hill Ventures, operates a CLIA-certified sequencing lab, and facilitates sample collection and data storage. Meanwhile, Helix partners with other groups — Laboratory Corporation of America, Good Start Genetics, Duke University, Mayo Clinic, and now Invitae — to develop apps that consumers can use to explore their DNA information in different contexts, such as health, nutrition, and genealogy.
Proponents of precision medicine have long envisioned a future where people have their genome sequenced and return to it again and again to learn different things — if they have a higher chance of adverse events with a particular drug, why their face gets red splotches after drinking alcohol, or if they're at risk for a serious condition. Mobile apps could be a virtual tether between people and their genomic data as they go about their lives, allowing them to probe the information as the interest or need arises.
"The idea is to open up a completely new market for bringing genetics into the lower-risk general population," Invitae CEO Randy Scott told GenomeWeb. "But through that we could have a potentially significant impact on preventive health and medicine."
If Invitae, a traditional medical genetic testing company, launches its first health scan apps with Helix in 2017 as planned, it will be one of the early players in the molecular diagnostics space to implement such a business model. The audience Invitae is hoping to reach through these apps is the wide swathe of the population that currently doesn't have access because they're not at high risk for heart disease and cancer according to treatment guidelines, and so insurance doesn't cover testing for them.
Genetic testing for patients at high risk for these diseases can cost $1,000 or more. Invitae's list price for its genetic testing panels for a particular disease category (i.e. oncology, neurology, cardiology) is $1,500, but the firm charges $950 to institutions under contract and $475 to patients who pay out of pocket because their insurance company did not cover testing ordered by their doctor.
Invitae decided on this pricing structure, realizing that as the costs of sequencing continues to drop, it will be more efficient to test large panels of genes and pass on the savings to payors. Moreover, the company is also betting that consumers' interest in their own DNA data will grow at a faster clip than insurers' willingness to pay for that analysis.
The analysis that people will be able to order through Helix won't be as thorough as the testing for high-risk patients, and at around $200 for the initial sequencing and app-enabled interpretation, the pricing will reflect that. Genetic tests for patients at high risk for cancer are designed to detect 99.9 percent of the mutations known to be associated with the disease and probe difficult to assess areas of genes, and this adds to the costs.
"With the Helix platform, because they'll be running a full exome sequence, it'll be a reasonably low pass exome that's designed for general population use," Scott said. "You're not going to get the thresholds for a typical diagnostic."
Invitae will interpret variants in genes that the American College of Medical Genetics and Genomics advises labs report to patients who have gotten whole-genome or exome sequencing. Mutations in several of those 56 genes are implicated in cancer and cardiac conditions. The firm will make people aware that a negative result doesn't mean that they are without risk for cancer and heart disease, Scott said.
With modest-sized panels that include a dozen or so key genes associated with breast and ovarian cancer, up to 14 percent of high-risk patients will learn they have a pathogenic mutation in one of these genes. "As a screen to the low-risk population, probably only 1 percent of the overall population will find a pathogenic mutation that could affect their healthcare," he said, likening the analysis through Helix as a kind of general check-up one gets at the doctor's office.
"But you can get a check-up that might lead [the doctor] to go further," Scott added.
Like all the tests Invitae offers, individuals will still need to get a doctor to sign off before getting their risk information through the app, but Helix will market its services broadly to address a range of interests. "We plan to do direct-to-consumer marketing both independently and in collaboration with our partners," a company spokesperson said, but noted that Helix hasn't yet disclosed any marketing collaborations.
"Helix can be selling into the general population that's interested in things like ancestry or other applications of their genome, but in that process they can get educated and cross over into a medical application," Scott explained. "It allows us to continue to focus on our core market, which is the physician market place … and we get the advantage of both worlds."
Consumer-facing genetic testing firms offering health-related risk assessments are controversial. There are those who caution that there is too much we still don't know about the genetic underpinnings of diseases, and allowing people to find out online that they have variants with unclear penetrance without medical professionals as intermediaries to explain the limits of this information, may increase anxiety or lead to unnecessary follow-up testing and treatment.
Some companies, like 23andMe, which previously tried to sell health-related genetic test reports directly to consumers without a physician's involvement, have faced scrutiny from the US Food and Drug Administration, though the agency hasn't restricted people from having direct access to their raw genomic data. Consumer genomics proponents have pushed back against regulators as paternalistic and pointed to studies that show early adopters of this kind of testing aren't harmed.
Amid this controversy, some companies, such as Color Genomics, Veritas Genetics, and Kailos, have taken a hybrid approach, where consumers can order genetic tests online but then, based on the results, would have to learn about their disease risks through a medical professional. These companies are careful to distinguish themselves from the direct-to-consumer model.
Scott similarly noted that Invitae is not a direct-to-consumer genetic testing company, but has always involved physicians, and will operate the same way in its collaboration with Helix. "The patient can select the app," Scott explained, "but then the patient will have to have either their own doctor, or we can refer them to other medical groups, that can then order the test on their behalf." Helix is analyzing patients' DNA at a CLIA-certified lab.
This type of consumer-initiated testing model, however, can identify patients who aren't considered at high risk for diseases like cancer and heart disease by current treatment guidelines and insurers' policies. "If you think about the broad population …not everyone has family history," Scott said.
A study of 8,000 healthy Ashkenazi men for three cancer-associated BRCA mutations found that half of the men with mutations came from families without a strong history of breast and ovarian cancers. Based on this finding, breast cancer research pioneer Mary-Claire King has been advocating BRCA mutation screening for women starting at age 30, regardless of family history.
The other argument in favor of genetic testing services aimed at the general population is knowledge accrual. A team of researchers from Color Genomics and the University of Washington, including King, last week launched a public database of cancer-linked genetic variants detected in 10,000 elderly women who participated in a long-term research study but never developed cancer. Resources like this are sorely needed for the classification of rare variants with unclear links to disease, which are increasingly being detected as more people get genetic testing.
Invitae is a strong proponent of sharing data on genetic variants and has been submitting to the public repository ClinVar. A service like the one Invitae and Helix is pursuing through the use of apps could also contribute to the field's understanding of genetic variants.
"The more we can drive prices down and make genomics affordable and accessible, not just for the people with the most severe symptoms but also for the general population, the more we're going to learn and the more it's going to help us treat disease," Scott said.
In its core medical testing business, Invitae is expecting to analyze between 50,000 and 70,000 samples this year. But the company has also been building up its capacity to interpret variants at scale. "For us to be able to leverage [the existing interpretation platform] and have the sequencing done at Helix … created a nice synergy," he said.
Given consumers' curiosity in using genetics to explore their family background, with Ancestry.com boasting 2 million customers as of June, Scott expects Helix will attract substantial interest from a general audience. "What none of us knows is what percentage of those will click through and then decide that they actually want to get a test for heart disease or cancer," he reflected. "We'll be learning a lot as we go, but we do think it's a significant opportunity."