World Technology Summit Awards Counsyl for Innovation in Health & Medicine

25 Nov

What do 3-D printing of soft tissues, space travel to Pluto and population screening for rare diseases have in common? One word: innovation. Last week in New York City, some of the brightest minds across the globe gathered for the World Technology Summit, an inspiring two-day event featuring short talks from scientists, engineers and entrepreneurs aspiring to better the world. Speakers included Craig Venter, one of the first scientists to sequence the human genome, Jennifer Doudna, pioneer of CRISPR technology, and our very own, Shivani Nazareth, talking about what Counsyl is doing and why it matters.


Three main themes dominated the stage environmental sustainability, genomic health, and the future. One panel was aptly titled, “The World in 2025, 2035, and 2045.” What does that look like? It’s world where carbon emissions are reused to create drinkable water, plastic is highly degradable, farms are vertical and sustained in warehouses. On the genetics front, it’s a world where everyone has access to important information about their DNA, and genes can be used to predict more than just health susceptibilities. And finally, it’s a world that expands beyond the earth, perhaps a time when our grandchildren will look at our planet from afar and say, “that’s where my parents’ parents were born.”

Gabe_Shivani_WTN.jpgAt the end of the summit, a black tie gala included awards for innovation in various categories, including “health and medicine” for which Counsyl won. A perfect end to an exhilarating evening, and an award that could not have been earned without the hard work and commitment of each person who makes Counsyl thrive. Well done, team!


A long search leads to a diagnosis and the birth of a foundation

13 Nov
Melissa and her daughter Ginny.

Melissa and her daughter Ginny.

When my daughter Ginny was born seven years ago I immediately knew something wasn’t right. Call it mother’s intuition. She failed her newborn hearing test and, as she grew older, we learned she had poor muscle tone, trouble feeding, and struggled to meet basic milestones.  She developed very slowly, but steadily made small amounts of progress.

It would take two years before we knew what was wrong.

Before her first birthday, we had started what I have come to call our diagnostic odyssey. We saw an otolaryngologist, neurologist, geneticist, neurosurgeon – and the list went on and on.   

We did an MRI of her brain and it was abnormal. The neurologist thought she’d had a stroke in utero and wasn’t all that concerned. But I pushed for more physical therapy, more occupational therapy, and more speech therapy. I knew something wasn’t right.

Our local geneticist put Ginny through another round of testing. By this time we knew she had vision as well as hearing loss so Ginny was tested for Leigh Syndrome  and Usher Syndrome. We kept working and evaluating her, and I kept learning more about various genetic diseases.

We finally got a diagnosis in May 2010, just before Ginny turned two. She had Peroxisome Biogenesis Disorder – Zellweger Spectrum Disorder (PBD-ZSD), a genetic, terminal, neurodegenerative condition that affects all major systems in the body. Sensorineural hearing loss, vision loss, retinitis pigmentosa, kidney and liver issues, osteoporosis and adrenal insufficiency can all be symptoms of PBD-ZSD.

I told our doctor, “I really need to talk to another parent.”

It was a terrifying and daunting diagnosis to receive as a parent. We dropped everything and drove to Baltimore to meet with a physician who had experience with PBD-ZSD at Kennedy Krieger Institute at Johns Hopkins University.

He evaluated Ginny and answered all our questions, which included “How long will she live? Will she lose all her hearing and vision? Can we have other children?”  At the end of our three-hour visit with him, I asked whether he could give me the name of another family going through this. I told him, I really need to talk to another parent. He gave me the name of another mom. That night I connected with her and shortly afterwards we launched The Global Foundation for Peroxisomal Disorders.  

The mission of the GFPD is to foster research on PBD-ZSD and provide support to families facing this devastating disease. The GFPD just celebrated its fifth birthday and we have accomplished much in a short period of time.  We’ve hosted several Family and Scientific Conferences and granted $140,000 to researchers looking for viable treatments for PBD-ZSD.

Five of my relatives have been tested by Counsyl and I believe there will be several more.

Ginny passed away in April so it has been a challenging year. Her death has motivated my extended family to get the Counsyl test and find out whether they, too, are carriers for this disease. I recommend Counsyl because the PEX 1 genes can be detected along with a myriad of other genetic diseases. Five of my relatives have already reached out to Counsyl and I believe there will be several more. I come from a big family, many of whom are in the process of getting married and thinking about having children.

I was never screened when I was pregnant with Ginny. I asked my doctor about prenatal genetic screening because my husband’s mother died of ALS. I was told “You’re healthy and have no family history of genetic disease. It’s not something you need to do.” Here’s what I now tell anyone who will listen: “The best thing we can do to combat genetic disease is to make sure babies aren’t born with one.”

-Melissa Bryce Gamble

Grateful for the DNA test she almost didn’t take

28 Oct
Lia is thriving on her special diet.

Lia is thriving on a low-copper diet.

Shortly after our daughter, Lia, was born I found myself sharing stuff with my hairdresser I hadn’t even told our closest friends. She’d just had a baby, too, and we talked about Lia’s delivery, which was so rough she ended up spending five days in the neonatal intensive care unit.

-1I also told her that in my first trimester my husband, Brian, and I took Counsyl’s Family Prep Screen and learned we’re both carriers of Wilson’s Disease. If left untreated, Wilson’s causes a poisonous build-up of copper in your liver, brain, and eyes. We were uncomfortable talking about it until we knew for sure whether Lia had inherited it.

When my hairdresser heard we’d done DNA testing she told me she never would. She said she thought you’d have to be okay with the idea of terminating a pregnancy to take a genetics test. I said I felt the same way.

“So why’d you do it?” she asked.

“It’s just extra bloodwork,” I told her. “And I wanted to know all I could for a healthy pregnancy. Plus we thought no way would my husband be a carrier since it’s such a rare disorder (our chances were 1 in 40,000). But – jackpot! – he is and we should have gone to Vegas.”

“Oh my god – so by doing genetic testing you really possibly helped the baby in case she has it?”

Then I told her why I was glad we’d done it. Without a DNA test we’d have had no idea Lia might have Wilson’s Disease because there is zero sign of it in our families. And it can take precious years to diagnose since it shares symptoms with lots of other diseases, including depression, hepatitis, and Parkinson’s – years when the damage caused by Wilson’s is building. Much of it is irreversible, which is why an early diagnosis is so important.

“Oh my god,” she said. “So basically by doing genetic testing you really possibly helped the baby in case she has it? Okay, I really should get tested before we have another baby.”

“Within four days I’d heard back from 30 experts”

About a year later we used Counsyl to get Lia tested. She has inherited Brian’s and my “bad” genes and cannot excrete copper. She risks liver failure, seizures, movement disorders, psychiatric problems, and many other things. Within a week after finding out I’d put together a spreadsheet of 25 physicians and researchers who know something about Wilson’s Disease and emailed all of them for advice.

Within four days I’d heard back from 30 experts – yes, five more than I’d contacted. Apparently it’s unusual to use DNA testing to diagnose Wilson’s disease. Since this is uncharted territory we’ve been overwhelmed by experts who want to help.

“I thought very seriously about stripping out our copper piping”

Lia, who’s 18 months old, is now on a low-copper diet (she needs some copper for growth) and takes liquid zinc twice a day to block copper. I thought very seriously about stripping out our copper piping but the town already sends water through pipes so it seemed like overkill. Brian and I did end up buying some land nearby and we’ll probably build a house on it with (PEX) plastic piping.

We’ll continue to use bottled water just to be safe. (Fortunately copper can’t be absorbed through skin or Lia would be taking some very expensive baths!) We’re told that because we had genetic testing done early, before any damage was done, Lia will probably never have any symptoms of Wilson’s Disease and live a healthy, normal life.

That conversation with my hairdresser was a turning point for me. I’ve become such a cheerleader for genetic testing and for Counsyl, which has continued to guide us on this journey. It’s scary to think I almost didn’t do it. Think what that could have meant for Lia. I tell friends there’s huge value in finding out early whether your child is at risk of inheriting a disease. Having that information might just mean you can get help to your baby that could save her.

-Lauren, age 38


500,000 patients screened, and growing

9 Oct
Rishi Kacker, Ramji Srinivasan, and Eric Evans in Counsyl's state-of-the-art laboratory.

Co-founders Rishi Kacker, Ramji Srinivasan, and Eric Evans in Counsyl’s state-of-the-art laboratory.

“We’ve only scratched the surface of what we can become.”

Counsyl just hit a major milestone. The number of people who’ve used one of our DNA screens has passed a half million. “This is an incredible moment,” says co-founder and CEO Ramji Srinivasan. Hitting this number is an even bigger deal when you consider that expanded carrier screening didn’t exist when the Family Prep Screen, our flagship product, was introduced in 2010. At the time, physicians were ordering carrier screens one disease gene at a time. Since then expanded carrier screening has gotten enough traction that five medical societies came together earlier this year to issue a joint statement to help clarify for physicians how to use it and who can benefit from it.

“First we created the model for expanded carrier screening,” says co-founder Eric Evans, Chief Science Officer. “We’ve been building a case for how it can help families ever since.”

“First we created the model for expanded carrier screening. We’ve been building a case for how it can help families ever since.”

How Counsyl met this milestone is also the story of how a software startup became a healthcare technology company that makes it easier for doctors to deliver high quality care. That transition can be charted in part by recognizing a few of the company’s other notable achievements.

Counsyl VP of Engineering, Rishi Kacker, Counsyl CEO, Ramji Srinivasan and Counsyl Chief Science Officer, Eric Evans.Since its start, the Counsyl team has provided more than 10,000 hours of genetic counseling; built our own lab; introduced state-of-the-art automation for processing samples; published peer-reviewed research papers in several medical journals and presented findings at dozens of conferences world wide; ushered in next-generation-sequencing; won industry recognition for our tracking and results delivery systems; set up partnerships with almost every major insurer; introduced the Informed Pregnancy Screen to identify chromosome risk very early in pregnancy and, just this year, an expanded hereditary cancer panel, the Inherited Cancer Screen.

“It’s a solid start,” says Ramji, who took a break recently to reflect on how the company has grown since its 2007 launch, “but we’ve only just scratched the surface of what we can become.”

“The opportunity is massive and we were naïve enough to think it could be us who figures it out.”

In 2006, chips that read sections of the human genome were newly developed and Eric Evans, a molecular biologist fresh out of Stanford, couldn’t stop thinking about the science’s potential for transforming the way medicine is delivered. He shared his vision with Balaji Srinivasan, another Stanford graduate, who looped in his brother Ramji, who was working on Wall Street and eager to return to California to do something more important than, as he puts it, “pushing around pieces of paper.”

“The thinking was that the genome is going to become important because of its potential to impact health,” says Eric. “That gap, which was how to make the genome useful, was also the opportunity. Someone had to translate that promise into reality and we decided we were going to be the ones to do it.”

Rishi Kacker, now VP of Product, left Voltage, a data security company, to sign on as another co-founder. “The opportunity is massive and we were naïve enough to think it could be us who figures it out,” he says. “Why not?”

“We figured out the importance of asking people what they actually want.”

In the beginning they thought more like engineers than entrepreneurs. “We were starting with the solution and looking for the problem,” says Ramji. Their strategy for making the genome useful was to write software applications on top of genomic code. “That was before we figured out the importance of asking people what they actually want,” says Ramji.

Ramji and Eric in the early days of Counsyl.

Ramji and Eric in the early days of Counsyl.

What he, along with the rest of the Counsyl team, quickly discovered is that our target audience isn’t all that interested in genomics for its own sake. Counsyl introduced the idea that 100 genes could be screened for the price of one – and promptly ran into resistance. Physicians told us they were concerned they wouldn’t be able to handle the additional load of positive responses. “So we tried to explain our point of view,” says Ramji, “and learned pretty quickly that it’s not a good idea to argue with your customer!”

The team regrouped. Rishi, whose father, a doctor, had advised his son against going into medicine, says the early years amounted to a crash course on the complexities of the American healthcare system.  “We started thinking, can we give time back to physicians so they can spend more time with patients?” he says. Physicians may not be excited about genomics, reasoned the team, but they do care about helping at-risk couples. So why not make it easier for doctors to do the right thing?

That approach has guided the company’s development ever since. “We moved from technology for its own sake to enabling better clinical decisions,” says Ramji. “And that’s been the narrative arc for all our products.”

“It takes an insane intersection of product, technology, and science to build this.”

The startup conceived as a solution to tapping the genome’s potential set its sights on tackling modern medicine’s delivery problems. Counsyl made it painless for physicians to coordinate screening for patients, introduced an easy-to-understand tracking and results delivery system, and added on-demand genetic counseling to help explain results to patients. We built our own lab to better manage costs and quality, adopted price transparency as a goal, and began to think more aggressively about our potential impact on healthcare overall.

“It has taken an insane intersection of product, technology, and science to build this,” says Rishi. “But the benefit is substantial. Lab testing influences 80 percent of spending on healthcare. If you can improve there, it has a disproportionate impact on healthcare spending.”

“We want to be a leader in creating the kind of experience that patients like us expect from medical care.”

When Ramji anticipates the next milestone it’s no surprise he wants Counsyl to be the name people think of when it comes time to be screened. Toward that end the company encourages a culture of listening to patients and physicians to find out what they want from us. The team also relies on data for inspiration and guidance.  “We’ve built a powerful engine that generates huge amounts of data and has given us powerful insights,” says Ramji.

The founders agree that a big driver for the company over the next five years is to make screening a routine part of preventive care. “We want DNA testing to be a part of every health conversation around pregnancy, oncology, and health care,” says Rishi. A means to that end is making the Counsyl experience gratifying for the physicians and patients who use it. That thinking has been incorporated into the way every new Counsyl product and service is now developed.

“We want to be a leader in creating the kind of experience that patients like us expect from medical care,” says Rishi. For the team that has asked “why not” from the start, that might just be the next milestone to celebrate.

Catching up with Counsyl’s Jonathan Wan after DreamForce

6 Oct

Jonathan Wan, Product Deployment Director

Easiest way to explain what he does: I lead up a team of product managers, platform engineers, and project managers to focus on best ways to deliver Counsyl’s DNA screens to the marketplace.

Jonathan Wan attended DreamForce along with about 150,000 others.

Jonathan Wan attended DreamForce along with about 150,000 others.

Life before Counsyl: I got my masters in civil and environmental engineering at Stanford. I’d always loved the idea of teaching and research. But in 2010, right out of school, I took a job at Counsyl, mostly because I really liked the people I met there. Plus I like living in California and worried that, after making my way through the grind of getting my teaching degree, I’d end up working in Kansas because it’s so hard to find teaching jobs.  

Why he presented at the DreamForce conferenceSalesforce has a new focus on healthcare and likes that we got our platform up and running on our own with lots of unique customizations. For instance, we developed a custom application on the Salesforce platform that sends a follow-up survey to healthcare providers after patients have received their test results. We’re able to broadly and efficiently gather information about how patients are using our test information to take action as a result of that information.

What he told the people who showed up to listen: We’re patient-centered but our client services agents don’t interact with patients face-to-face. They depend upon technology to provide an individualized patient experience. We thought that if we can make the support tools simple and easy for our client services agents to use, they can focus less on searching for keywords and more on supporting patients.

Why he got applause: Our case load per agent has increased by 25 percent but we’ve also reduced our first response time by 30 percent. We’re now able to offer live support for all our patients and clinical staff through essentially any communication platform you can think of. With the new platform, we’re able to experiment with programs that allow us to be more proactive in the patient support process. This is a big deal because we know we’re dealing with patients who are likely going through an anxious time in their lives.

Bonus feedback: Someone from an HMO, who is already working with us, came up afterwards to say he loved what we were doing with our proactive approach to patient engagement. He told me, “We’d like to explore working with you on a program to share patient engagement data.” He wants to help his health plan improve patient satisfaction and retention.

Coolest moment: I was on the Expo floor talking to a sales manager when his face turned ghostly white. I turned around to see what he was looking at and it was Marc Benioff, Salesforce’s CEO, who towers over everyone at 6’5”. He was only five or 10 feet behind me. Having seen Counsyl grow from its humble roots to what it is today, I can only imagine what it must have felt like walking around at his own huge conference.  Definitely inspiring to see the company culture he’s been able to maintain at such a large scale.

Shoutout goes to: The client services and commercial operations platform development teams. Thanks for the support and allowing me to share your story!

Counsyl makes DNA testing for inherited cancers an option for thousands more women every year

23 Sep

To understand the difference Counsyl’s Inherited Cancer Screen (ICS) could make in the way cancer is managed, consider the story of Joanne*, a mother of two who lives in a small town in west Texas. A few years ago, after her 51-year-old sister was diagnosed with breast cancer, Joanne made an appointment with Kaylene Ready for genetic counseling. Kaylene, now

Representing Counsyl! (left to right) Emily Leung, Kathleen Berentsen, Kaylene Ready, and Shivani Nazareth with a guest at BrightPink FitFest.

Representing Counsyl! At the BrightPink FitFest (l. to r.): Emily Leung, Kathleen Berentsen, Kaylene Ready, and Shivani Nazareth, with a guest.

Counsyl’s Director, Cancer Screening, took her history and learned that Joanne’s grandmother had died of unknown causes but her mother, an only child, was in her mid-70s and still healthy.

Her mother’s good health meant Joanne, age 46, did not meet the insurance company’s “high risk” criteria. If she wanted to take a genetic test to find out her own inherited cancer risk she’d have to pay out of pocket for it. Until recently that meant a bill of several thousand dollars so Kaylene was reluctant to push it. Instead she suggested that Joanne ask her sister to get tested for any cancer-related mutations because her insurance was more likely to cover it.

One year later Joanne was back in Kaylene’s office. This time she had a diagnosis of early stage breast cancer and this time her insurance covered the cost of a screening. As soon as Kaylene got Joanne’s results she called her. “Telling her that she had inherited a BRCA2 mutation was one of the worst phone calls I’ve ever had to make,” says Kaylene.

It allows more women to get tested and helps doctors, too

Counsyl has expanded its Inherited Cancer Screen to include 22 genes associated with breast, ovarian and gynecological cancers, as well as other types of cancer, including gastrointestinal and neuroendocrine. But what makes it a standout in the field of cancer screening is that it allows more women, like Joanne, to get tested and it simplifies the process of administering screenings for doctors.

Kaylene, Kathleen, and Shivani answer questions at the BrightPink FitFest.

Kaylene, Kathleen, and Shivani answer questions at the BrightPink FitFest.

Improvements in automating lab work, among other innovations, has allowed Counsyl to dramatically lower the cost of screening. It also has partnerships with several major insurers. If Joanne showed up in Kaylene’s office for the first time today, she could get screened for only a few hundred dollars instead of a few thousand.

“The high cost of screening has prevented many women from getting tested early enough to take advantage of a preventive cancer program,” says Dr. Andrea Stebel of Newport Breast Care. “The Inherited Cancer Screen is a step in the right direction. It makes screening more affordable, even for women who don’t qualify for insurance coverage.”

This is big. Counsyl estimates that 25 people are diagnosed with BRCA or Lynch Syndrome cancer every day who only learn of their carrier status then. And while it’s hard to know how many women diagnosed with cancer should have been identified as “high risk,” a look at just one population, Ashkenazi Jewish women, suggests that number is high. One out of 40 Ashkenazi Jewish women aged 20 and older, or 50,000, are carriers of a BRCA mutation and a majority, 60 percent, are missed by current screening guidelines. This means that among the Ashkenazi Jewish female population alone, more than 30,000 carriers aren’t eligible for insurance coverage and could benefit from the Inherited Cancer Screen.

“There’s no doubt the ICS could make a difference”  

The ICS also makes it easier for doctors to do additional testing. It eases the administrative burden by offering streamlined tracking and online results. A team of genetic specialists offers on-demand counseling to help explain what those results mean. And since each test is coordinated through physicians, it’s easy for medical professionals to oversee screening and manage patient follow up.

Top attraction: the Counsyl photo booth

Top attraction: the Counsyl photo booth

Kaylene and her team at Counsyl have already hit the road to roll out the new expanded screen. She just returned from the BrightPink FitFest, in Chicago, where Counsyl sponsored a booth encouraging attendees to “get ahead of cancer.” Other events include a limited free cancer screening program in partnership with BrightPink and UCSF in San Francisco and the Race for the Cure on September 27th along the Embarcadero (“Join a Team” and choose “Counsyl” in the dropdown menu). Kaylene also plans to speak at several cancer-related conferences.

Her message is simple. “Anyone can add a new gene to their panel,” says Kaylene, “but not everyone can provide on-demand genetic counseling and get pricing to a point where it’s affordable. There’s no doubt that Counsyl’s Inherited Cancer Screen could make a difference for many thousands of people every year.”

*Not her real name

A scientist studies how fragile X syndrome affects one family – her own

27 Aug
Alex and her fiance, Donny.

Alex and her fiance, Donny.

We didn’t know fragile X syndrome runs in our family until my nephew was born. My sister, Desiree, had her son two and a half years ago and almost from the start he didn’t seem like most other babies. He was born with large protruding ears and had low muscle tone. He also wasn’t feeding correctly, which eventually led to a diagnosis of failure to thrive. And he screamed. A lot. Much more than your typical fussy baby.

My sister was concerned and had him tested for a number of different problems. Everything came back negative. Then my mom remembered something my dad’s cousin had told her once, maybe 26 years ago. He’d said something like, ‘We had children with fragile X and you might want to think about that when it comes time for you to have kids.’

That was the clue we needed. What came next has made a big difference to my family. It even changed the way I’m thinking about my career.

“My sister was matter of fact about the results. She’s science-y like me.” 

Desiree had Roan tested for fragile X syndrome, a genetic condition linked to intellectual disabilities, which can be profound in some cases. We learned that the gene responsible for fragile X syndrome is called FMR1, which is on the X chromosome. The FMR1 gene shows up in four forms and is characterized by the number of repeats of a pattern of DNA called CGG repeats. The greater the number of CGG repeats, the more severe the condition.

Roan has more than 200 CGG repeats. Above 200 the FMR1 gene shuts down, or methylates, which means it can’t produce a specific protein. The lack of this protein is what causes fragile X syndrome. Roan has a full-blown case of it.

My sister was matter-of-fact about the results. She’s science-y like me, with a masters that involved tracking salamanders in North Carolina. I’m getting a masters in cancer research. The news gives her a chance to find ways to support Roan. He’s doing okay but still too young for us to know for sure how severe his case will be.

“Usually people are horrified. I just find the whole thing really interesting.”

After finding out about Roan my sister and I became students of fragile X syndrome. We’ve learned that we – along with my Dad – are all premutation carriers, which means we have 55 to 200 CGG repeats. I have 101 repeats, slightly higher than my sister who has 85. Premutation carriers have an unstable mutation of the gene and symptoms can develop over time. My Dad, for instance, is now experiencing some memory loss and tremors. Other symptoms include being especially susceptible to anxiety and depression, especially if you’re a woman. And early menopause.

Usually people are horrified on getting news like this. But, like my sister, I did not freak out. If anything I just find the whole thing really interesting. I’m also relieved. I pretty much knew I was a carrier and had been frustrated by not being able to get my repeat number. Finding out that it’s higher than 100 means I have a 50 percent chance of having affected sons.

This will definitely change how I have a family. I have the option of going through IVF with sorting to make sure the embryo is healthy. But IVF is expensive. Whether I can afford to do that kind of depends on how my career plays out. I might just go ahead and get pregnant and see how it goes. If we do have biological kids we’ll probably just have one.

“The Counsyl experience was so great I’m thinking about switching careers.” 

We may also decide to adopt. I’m engaged to Donny who’s awesome. He’s half Native-American and we’ve talked about adopting a Native-American baby, which I think would be cool. Finding out that I’m a carrier hasn’t changed the way Donny feels about me. He’s a calm person and doesn’t let things bother him. We have a nice life together. He manages a bar. We have a couple of cats. We’ll have kids however we’ll have kids. Since I’m only 25 we have time to think about it.

Taking the test with Counsyl was such a positive experience. From the moment I ordered the test to the time I got the results things went smoothly. What really stood out for me was my meeting with the genetic counselor.

It was so great I’m thinking about switching from a career in cancer research to genetic counseling. Right now I’m a lab rat and do bench work. I don’t mind it. But I don’t like not interacting with people. I like what genetic counselors get to do – sit with people and explain the science of genetics and how it affects them. I think I’d be good at that.

-Alex Moffitt


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