Testing for Rare Disease with a DIY Kit at Home

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If you attended Hey Startups! last month in Seoul, you would remember 3billion. Although the startup didn’t take home the trophy, the pitch by Co-Founder DH Park provided fresh insight into the innovations of a field in healthcare that deserves more attention today: genetic testing for rare diseases.

3billion (Co-Founders: Changwon Keum, Sehwan Kim, DH Park) is the first in the world to provide direct-to-consumer genetic testing for 4,000+ rare diseases. The service is for people to discover the genetic origin of their rare disease.

Here is how it works.

Once signed up on the 3billion website, customers receive a saliva collection kit with which they collect their saliva sample and return it to 3billion using a prepaid shipping box. In 8 weeks, 3billion identifies the specific rare disease causing mutation in the genome and provides the disease status for each found variant. 3billion also provides all the published information regarding the affected diseases so customers can get a comprehensive understanding of their health. Results are available on the user-friendly 3billions website.

How 3billion Works

Everything is web-based, allowing individuals to stay home to take what would otherwise be an extremely costly and timely testing procedure.

Selected as one of the twelve companies for K-Global DB Stars Program in 2017, an acceleration program funded by the Korean government, 3billion is in full speed to revolutionize the way patients with undiagnosed rare diseases approach their health. The company began its closed beta service earlier this year with 150 pre-selected patients in the United States.  

While based in South Korea, 3billion targets the U.S. market, where one out of every ten people suffers from a rare disease. According to Co-Founder DH Park, the “most difficult part about being a patient with a rare disease is that you can’t get an exact diagnosis, as doctors don’t have the time or the expertise to screen for thousands of diseases.” Furthermore, “80% of rare diseases is genetic, and the currently available genetic testing services are highly costly with no insurance coverages.”

Genetic testing has been around for a while. The science is ready, but it is not easily accessible to patients. 3billion’s mission is to bridge this gap: to provide comprehensive genetic testing at an affordable price, directly to the patients at home.

The Team @ 3billion

3billion’s target consumers are unique in that the community of rare disease patients are extremely active online compared to other patient advocacy groups. Through online forums and platforms, patients constantly communicate with each other to seek and offer help. The uncertainties associated with their symptoms seem to drive a stronger sense of connectedness amongst each other and it is precisely this aspect of the rare disease population that helps 3billion reach its audience effectively.  

While South Korea bans consumer genetic testing, the U.S. offers opportunities for 3billion. The FDA has strict guidelines on genetic testing, and the clear regulations, albeit challenging, actually allow 3billion to clearly identify its next steps as the company prepares to launch its open beta service.

What next?

Being an end-consumer facing business means pricing is crucial. Existing genetic tests are not offered directly to patients, and as the first and only company to provide genetic testing in the rare disease space, 3billion’s biggest challenge is its pricing strategy. Currently, 3billion offers its screening service at $1,000 per patient. A comparable service available in clinics is $5,000 in the U.S. While 3billion’s current price is already 80% lower than the clinics’, Park anticipates the price of 3billion’s service to fall in the future as the price of genome sequencing continues to drop.

3billion received its seed fund from Macrogen, which it spun off of in 2016. The startup plans to raise its Series A funding by the end of this year. As the first company to apply an existing technology of genome testing to the rare disease space, 3billion is on a fast track to help the millions of patients who are eagerly waiting for an opportunity to receive affordable diagnoses and accurate results.

 

Based in San Francisco, Lisa enjoys exploring the intersection of technology and social impact. Having lived in over 9 cities throughout her life, she is in constant pursuit of immersing herself in culturally & intellectually diverse environments.

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