By: Erin Brodwin
- Genetic testing will be a cornerstone of healthcare in 2019, but there’s a war brewing over how to harness your DNA data without harm.
- There are currently two ways to do the testing: a costly but complete genetic workup through a doctor or a cheaper at-home test like those sold by 23andMe.
- Clinicians and advocates criticize the at-home approach, which they say prioritizes convenience over privacy and long-term health.
- New hybrid approaches are beginning to emerge, starting with one from San Francisco-based genetics information company Invitae.
If the future of healthcare is in your DNA, there’s a war brewing over how to harness the information it contains without causing harm to patients.
Today, there are two main ways to take a peak at your genes: either by getting a costly but complete genetic workup through a doctor, or by opting for a more affordable at-home test like those sold by 23andMe.
Clinicians and advocates criticize the at-home approach, which they say prioritizes convenience over privacy and long-term health. But entrepreneurs counter that the at-home approach lets more people access information.
A true hybrid approach — something that combines the benefits of comprehensive testing with the convenience of at-home tests while still keeping your data safe and private — has yet to have a sizeable impact.
That’s where San Francisco-based genetic information company Invitae hopes to make a splash.
The company will soon let patients order a personal genetic test online through a genetic counselor or physician, Invitae CEO Sean George said last week at the J.P. Morgan Healthcare Conference. The company’s tests are currently only available from a clinician who orders the test on a patient’s behalf.
“We now in 2019 will focus on removing the barriers of access to [genetic] information and providing support for that individual every step of the way,” George said during a presentation last week.
Since its first test launched five years ago, Invitae has sequenced the genes of more than half a million patients. The company focused on diagnostic genetic testing for patients with conditions like cancer, heart disease, and rare disorders, as well as infertility and pregnancy. It catered to physicians and genetic counselors who would order the tests on behalf of their patients.
But as genetic information becomes increasingly important in healthcare, the Invitae team has begun to work on making its tests more accessible to more people.
Patients will be able to order genetic tests online through a clinician by this summer, George said. Nearly any test on Invitae’s clinical menu will be available this way, making Invitae one of the first companies to offer wider access to clinical testing for an array of conditions and inherited health risks.
Unlike at-home genetic tests, Invitae’s tests are clinical grade and will not require patients to follow-up their results with confirmation testing, a company spokesperson told Business Insider.
23andMe, perhaps the most widely-recognized name in genetic testing, sells its $199 ‘Health and Ancestry’ kits in pharmacies or online without any input from a clinician. Because they’re offered without a clinician’s input, however, 23andMe’s tests are not considered clinical grade. As a result, both the company and federal regulators instruct customers to confirm any health findings with a separate clinical-grade test.
‘We aren’t interested in unleashing a whole bunch of information and providing no way to do anything with it’
Importantly, Invitae requires a physician or genetic counselor to be involved in all of its testing. Their role is to help translate complex genetic results into useful health guidance, Invitae CEO Sean George said.
Say you received a result that said you were at a high risk of an arrhythmia, or an irregular heartbeat. The genetic variants for this condition can be very difficult to interpret alone. While one variant could suggest to an expert that you’re in immediate need of a pacemaker, another variant might simply require monthly check-ins with a physician. But only an expert can reliably tell you which variant you have and what to do next.
“It’s important to us that they have somebody that can walk them through the results and immediately get them in touch with a specialist,” George told Business Insider in November.
Several experts recently echoed George’s sentiment, telling Business Insider last week that failing to include a physician or genetic counselor with a genetic test is confusing at best and harmful at worst. That’s something George has been thinking about for a long time.
“One of the questions we ask ourselves at Invitae is how we get this information to patients responsibly,” George said.
In addition to Invitae, several other companies are also beginning to experiment with new hybrid models for genetic testing. Color Genomics, for example, lets you order a genetic test through an independent physician who can help translate the findings remotely.
George said that while he hopes Invitae’s new initiative will help more people get access to their genetic information earlier, he wants to also ensure that people are able to act on the guidance they receive.
“Our mission is to get it in more people’s hands, but we aren’t interested in unleashing a whole bunch of information on folks and providing no way to do anything tangible with it,” he said.
Barbara Jacoby is an award winning blogger that has contributed her writings to multiple online publications that have touched readers worldwide.