For Jonathan Rothberg, science is personal.
"It all starts with the love of somebody that I care about," Rothberg said.
The engineer and entrepreneur is best known for the innovation of putting DNA sequencing on a microchip — for which he earned the 2013 National Medal of Technology and Innovation. This technology has personalized medicine for millions of patients.
Now his team has developed a hand-held ultrasound device, the Butterfly IQ, with hopes that it will be just as groundbreaking. It's about the size of a TV remote, connects to smartphones, and may help provide access to medical imaging around the world.
While Rothberg hopes the device will eventually be in the hands of every medical professional and possibly even patients themselves — he was driven by the health of his children to develop the innovations that made Butterfly IQ possible. His son's health spurred the commercialization of DNA sequencing through microchips.
"When my son was born, he was having difficulty breathing, and I wanted to understand why," Rothberg said. "I wanted to sequence [his DNA]."
"I realized that if you put DNA sequencing on a chip, you could democratize it and make it cheaper," Rothberg added. "Instead of sequencing for millions of dollars like the first projects, you could sequence an individual and have personal and precision medicine."
Rothberg saw the potential of open access to valuable DNA sequencing, which is now used widely in medicine and even in direct-to-consumer products.
"One of the ways you democratize things is by putting them on chips," Rothberg said. "When we put computing on a chip, we enabled the space program, and we enabled personal computers — and now the phone in your pocket, when you put a camera on a chip, everybody is carrying around a camera now. When we put DNA sequencing on a chip, we made it ubiquitous. Now, anybody that has cancer has their DNA sequenced on a chip."
With Butterfly IQ, his daughter's health drove the innovation of the hand-held ultrasound device.
"My daughter had growths in her kidney," Rothberg said. "They wheel out a $100,000 cart, and an expert who knows how to use that $100,000 ultrasound. I figured ultrasound has been the same for 50 years. It's been these old piezoelectric crystals and these big carts and experts using them. Why don't we put an ultrasound on a chip?"
Rothberg again saw the potential to make an ultrasound low-cost using microchips — and the now possibility of connecting it to a smartphone, incorporating apps and artificial intelligence. This would allow more people to have access to ultrasound technology, not just experts or technicians.
"Normally, if you go have an ultrasound they take a different probe for each part of your body because each one is a crystal set to resonate at a frequency that either works shallow, like on your carotid artery, or deep, like your beating heart," Rothberg said.
The Butterfly IQ replaces the resonating crystals with microtechnology that can be used at any depth within the body.
"We literally put 10,000 little transducers, each the size of the end of a human hair, they are basically little mechanical speakers that send out sound waves," Rothberg said. "Then those same speakers listen to those sound waves. We take those 10,000 signals, and we combine them into an image."
By replacing many specialized probes with a single universal microchip-based probe, Rothberg's team is reducing the size and cost of ultrasound imaging machines.
"It worked so well, we actually had the broadest clearance ever by the FDA for an ultrasound device," Rothberg said. “Now instead of $100,000, we sell it for $2,000. One of the great things about it is [the ability] to hook it to your phone …It is so easy to use that as of [right now] it is being used in over 11 low-resource countries."
By making ultrasound imaging portable, affordable, and easy to use via apps, artificial intelligence, and augmented reality, Rothberg hopes to overcome major challenges in medicine — facing both the developing and developed world.
"Two-thirds of the world has had no access to medical imaging. Now, every day, they can have that access not only because it is $2,000 but because it's now easy to use and it works with their phone — and it's totally portable," Rothberg said. "You keep it in your pocket."
Eventually, the impact of the technology could be global.
"When you look at the history of medicine, antibiotics and vaccines are really the only two things that have spanned across the globe. This device really has the potential of being that third one," said John Martin, chief medical officer of Butterfly Network, the company behind the Butterfly IQ device.
For developing countries, the device could fill this medical imaging gap and tackle two known killers: childhood pneumonia and childbirth. The Gates Foundation developed two apps to be used with the device to diagnose an infection in the lungs and tell how far along a woman is in her pregnancy.
"In low-resource settings, we can now keep people from childhood pneumonia, which kills 2,400 people a day and can help with the horrible statistic than every 90 seconds a woman dies in childbirth," Rothberg said.
In developing countries, Rothberg said a woman often doesn't know when her child is coming, and she may not be in a safe place or supportive environment to give birth.
"Something … so common to all of us: when a family is pregnant and is about to deliver a baby, the family is so excited. We think, 'Is it going to be a boy or a girl? What are we going to name it?' That's the excitement in the developed world," Martin said. "In the developing world, it is 'Am I going to survive? Am I going to live to see my baby grow up?'"
"The fact that this ultrasound device has the potential for changing that dynamic is incredibly powerful," Martin said.
"It will be used differently in different parts of the world to meet the greatest needs in each of them," Rothberg said. "Ours might be early detection — if we can have earlier detection we can cut health care costs."
When it comes to early detection, Martin has personal experience with the lifesaving benefits of an accessible ultrasound.
"I'm patient No. 001," Martin said.
Martin, who is a physician, had been working on getting FDA approval for the device when he started feeling sick but brushed it off as a cold.
"At that point felt a little swelling under the corner of my mandible, just kind of thought it was a lymph node. It wasn't a big deal," Martin said. "I was content to completely ignore it and then realized I had in my hand an entire ultrasound system, so why not put it to good use."
"So, I ultimately took this image. I sent it to my doctor. He advised me to get home. We did a biopsy, and the biopsy came back positive. They did a further evaluation and found out I had throat cancer, and this was metastasis to my neck," Martin said.
The cancer was Stage 3, but because most of the lump was not visible, it could have developed much further before Martin realized the severity of the issue.
"I ultimately underwent 5.5 hours of surgery and extensive radiation — but the value of early diagnosis is that I did avoid chemotherapy, which is typically done for more advanced patients," Martin said.
Currently, only medical professionals like Martin can purchase the device, but there is potential for patients eventually being able to use the device at home to monitor chronic conditions or even catch similar conditions before they become life-threatening.
"We're doing research studies right now with patients doing an ultrasound at home where it could be helpful," Martin said. An example is congestive heart failure. Patients actually build up fluid. The only real way we know how to monitor at this point is to get on a scale, and that is an incredibly insensitive way to do it."
"We are teaching people how to ultrasound themselves, and you can look at a lung scan, and that's actually a very sensitive way to tell what your volume status is," he added. "So, they can monitor if they start to get short of breath, is the shortness of breath a problem with their heart failure, or could it be a lung problem? This device could be an effective way to differentiate between the two, that's the future of where we are going."
Rothberg noted if the device saves one visit to a U.S. hospital for a heart patient that's a savings of $11,000 to the health care system.
"Doctors can prescribe the Butterfly IQ, to be used with a patient to monitor their heart but our ultimate goal — just like over the counter medicine, just like direct-to-consumer genetics — the longer-term goal over the next two years is to get the regulatory bodies comfortable," Rothberg said.
"People don't realize that thermometers started off just in doctor's offices," he added. "Blood pressure cuffs started off that way. [An insulin test], the sophisticated measurement of blood glucose started off at the doctor's office. And all of those, once people were comfortable, were allowed to be moved to the home."