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Expanded carrier screening: A review of growing consensus

27 Feb


Expanded carrier screening screenshot

5 questions with the lead author

Shivani Nazareth, Director of Women’s Health at Counsyl, sits down with lead author and VP of Clinical Specialists at Counsyl, Gabriel Lazarin, to discuss his recent publication in Seminars of Perinatology: Expanded carrier screening: A review of early implementation and literature”¹


Shivani: What do you think led to ACOG, NSGC and other key medical societies to put forth a joint statement on expanded carrier screening?

Gabriel: The realization that expanded carrier screening is here to stay, and that the medical community is in need of guidance from experts in the field. When we first introduced expanded carrier screening in 2010, we were met with a ton of resistance from genetic counselors and physicians.

Now five years later, the authors of the joint statement acknowledge the limitations of relying on ethnicity/ancestry to determine what diseases we offer to patients. Counsyl has played a big part in helping our colleagues offer expanded carrier screening in a clinically responsible way.

I think the joint statement is a testimony to the hard work that many people put into making expanded carrier screening a part of routine care.

Shivani: In your recent publication, you review the broad implementation of expanded carrier screening over the past few years. What did you find most interesting?

Gabriel: Widespread implementation has allowed the clinical community to more objectively estimate carrier frequencies and associated risks. Personally, I found those numbers to be intriguing.

As an example, data from a large multi-ethnic population revealed that the collective incidence of the “rare diseases” exceeded that of open neural tube defects or trisomy 21 in a 20-y old woman. This is a concept that geneticists have long inferred, but now concrete data allows for a more productive discussion of why we offer screening to patients.

Shivani: Can you talk about how we as genetic counselors can start to address pre-test counseling for so many conditions?

Gabriel: Sure, and the review article provides guidance on this as well.

As we screen patients for more conditions, whether it’s carrier screening for recessive diseases or hereditary cancer screening for a large number of genes, it’s fair to say that our current model of pre-test counseling is not sustainable.

Elias and Annas² described the elements of generic informed consent in their New England Journal piece, and we adapted their model for expanded carrier screening. In my paper, I review the ideal elements for pre-test consent, including an overview of disease categories, risk estimates, screening limitations, and next steps for high-risk couples.

Clinicians already do this for ultrasounds and other routine prenatal tests. We’re obviously not going over every possible birth defect that can be picked up on an ultrasound, but we give patients an overview of what to expect.

Shivani: In your paper, you note that there is widespread acceptance of expanded carrier screening, but only 15% of ACOG Fellows are routinely offering it to all of their patients. Why do think this is the case?

Gabriel: From my conversations with genetic counselors and doctors across the country, I suspect there is still some discomfort around how to counsel for a broad array of conditions. I’m hopeful that uptake of expanded carrier screening will grow as we start to agree upon best practices.

Shivani: What would constitute “success” in your eyes, when it comes to implementation?

Gabriel: That’s easy: everyone is offered expanded carrier screening before conception.

We still hear too many stories of couples who have lost children to rare diseases and had no idea screening was available. I think we have an obligation to these parents to change the way screening is practiced, and I will continue to beat this drum until we get there.




Learn more about the Counsyl Family Prep Screen here.


¹Lazarin GA, Haque IS. Expanded carrier screening: A review of early implementation and literature. Semin Perinatol. 2015
²Elias S, Annas GJ. Generic consent for genetic screening. N Engl J Med 1994;330:1611-1613

How design is driving change in healthcare

11 Jan


Designing for healthcare can force you to rethink everything you thought you knew about how people behave. The industry’s dense thicket of lawyers, privacy regulations, and outdated technology is easily the most frustrating part of a designer’s job – but it also creates opportunities. And the chance to improve on the way healthcare is delivered is hugely motivating. Exhilarating, even.

These are a few of the conclusions drawn by the designers who recently spoke about what their jobs in healthcare mean to them. Hosted in San Francisco by Opower, Design for Good panelists included:

  • Moderator David Webster, who led IDEO’s global Health & Wellness practice
  • Jesse Silver, VP of Product for Omada Health, which focuses on promoting healthy behavioral changes
  • Susan Dybbs, Head of Design at Collective Health, which works to improve employer-sponsored health insurance
  • Laura Martini, Director of Product Design for Counsyl

The group weighed in a number of topics, including how to create a user-centered experience in a world where the fax machine can still call the shots, and how design can benefit in a mission-driven company culture.

If attendance is any indication, design in healthcare is a hot topic. Nearly 150 people packed the event. “It’s refreshing hearing from other designers facing the same kinds of challenges we are,” says Martini. “Many of the ‘best practices’ in design – like short onboarding flows or clever website animations – don’t make sense in medicine. Working in this space gives you a chance to reinvent what good design looks like.”

Below are a few clips from the event.

What challenges are specific to designing for healthcare?


No designer can work effectively to improve health care without first becoming familiar with the regulatory environment. Developing an understanding of everything from HIPAA, to FDA requirements, to insurance coding is simply part of the job. The result can be a pace that’s “a little bit slow-moving at times,” says Jesse Silver.

But challenges can also turn out to be opportunities. Martini talked about Counsyl’s decision to improve healthcare delivery by taking on the industry’s price transparency problem.

Says Martini, “It shouldn’t take Silicon Valley engineers and a lot of time and resources and years of effort to be able to give patients a simple answer to the question, ‘How much will this cost me?’”

What can users teach us about designing for healthcare?


In a world where technology is helping businesses everywhere achieve frictionless transactions, it can be a struggle for designers to keep in mind that’s not what always works in healthcare. Sometimes patients reject slicker and faster in favor of deeper relationships with a company, as Jesse Silver’s team discovered in the course of working with diabetics to make healthy lifestyle changes.

“We have people calling up to tell us they want the onboarding process to be longer because they want us to understand them,” says Silver.

And in many clinics the fax machine is still a critical part of clinical workflow, says Martini, which means “you have to design fax-first.” In healthcare, it’s about facilitating human-to-human interaction and not just coming up with solutions to enabling technology.

How can the desire to make the world a better place fuel good design?


Each designer on the panel noted the advantages that come from working for a mission-driven company. They credited the “desire to make the world a better place,” in Martini’s words, for not only inspiring designers but for creating a corporate culture that supports good design.

“Designers, I think, by nature are passionate and usually driven by some mission,” says Jesse Silver. “And so, if they’re aligned with your mission, then design flows more smoothly throughout the entire organization.”

Design for Good: Rethinking Healthcare

If you’ve got time, grab some popcorn and check out the entire event.



MDs get a “shared language” for discussions on carrier screening

18 Mar

When an oncologist assigns Stage One status to a tumor he’s letting his patient know they’re catching the problem early. It’s the kind of shorthand that’s missing in most clinical conversations about expanded carrier screening. Basically, there’s been no easy way for a doctor to indicate how serious a particular genetic disease is. Gabriel Lazarin, who works closely with physicians in his job as Director of Genetic Counselors on Counsyl’s clinical sales team, decided to see if he could change that.

Gabriel Lazarin at Counsyl headquarters.

Gabriel Lazarin at Counsyl headquarters.

“I wanted to give physicians and patients a shared language,” says Lazarin, who joined Counsyl five years ago as its first genetic counselor. “A way to talk about the impact of a disease in a way that’s more objective than saying “it’s not that bad,” or “it is bad.” Two years ago he helped organize a study to establish a scale for rating genetic diseases and in December the Severity Index was published in Plos One Journal.

The result is that a physician can now easily guide patients interested in carrier screening to a customized outcome. There are patients who find it alarming that they’re carriers for early hearing loss, for instance, while others don’t really mind. Patients can choose to be tested for every disease on the panel, including GJB2-related hearing loss, rated 2, or moderate. Or maybe they only want to be evaluated for conditions that have been rated 4, or profound, such as Canavan disease and Smith-Lemli-Opitz Syndrome. The beauty of the Severity Index is that it’s up to patients to decide on their level of tolerance. Says Lazarin, “I hope this starts us down a path of making it easier for physicians to discuss screening with their patients.”

Internship with a genetic counselor sparks a career

Lazarin has always loved science and as an undergrad at Stanford was naturally drawn to genetics. News about the genome was exploding in the early 2000s and when an advisor noticed his interest he suggested Lazarin consider genetic counseling. Intrigued, he shadowed a genetic counselor and discovered he loved it. He spent a couple of years after graduation working in the Stanford admissions office but couldn’t shake the connection he’d felt so he applied to the masters program at the University of Texas Health Science Center at Houston.

IMG_2205Lazarin arrived at Counsyl after a stint working in a high-risk pregnancy clinic in Phoenix doing prenatal genetic counseling. His chance to be a Counsyl client came a couple of years ago when he and his wife, a family physician who lives with him in New York City, decided to have a baby. “I knew to not expect anything bad but I also know from clinical experience that the unexpected happens,” he says. So it was a relief, he says, to find their children weren’t at significant risk. In December, he and his wife welcomed a healthy baby girl.

Lazarin, who recently explained his study approach in a guest post on the DNA Exchange, says he’d love to do more research. “I think we’re helping advance the field of genetic counseling by taking something complicated and turning it into something predictable,” he says. “I’m happy to be working with an organization that’s so willing to share information that benefits everyone.”


Sequencing vs. Genotyping

4 Jun

Our scientists have been hard at work on a new test we’re calling the Counsyl Test 2.0. What’s different? Well, everything and nothing. You see, we’re still looking for mutations that cause the same 100+ diseases. Where before our technology looked at 400 of the most common mutations for these diseases, our new technology can test for more than 10,000 mutations. Yes, you read that correctly: greater than ten thousand.

How do we do this? We use a technology called Next Generation Sequencing (NGS.) With Counsyl Test 1.0, we look at very specific places on your genome to see if there is a mutation  in your DNA in a specific spot.


With our new technology, we can look at entire sections of DNA at one time, allowing us to find many more mutations.

It might help to think of an analogy: imagine your DNA is like the ocean, and it takes special technology to investigate what lies beneath the surface.

Imagine that Counsyl Test 1.0 is like a snorkeler. With just a face mask and a snorkel, a person can see many types of fish and coral. In fact, much of what’s interesting is up near the surface. However, this snorkel technology is limited and can only go so deep.


Counsyl Test 2.0 is like taking our intrepid explorer and giving her SCUBA gear. She can jump into the water in the exact same location. She can swim near the surface and see the exact same fish and coral as snorkelers. She can also go deeper, and see creatures that only live far beneath the surface. This equipment is more expensive, but it allows her to see more deeply than before.

So, there you have it— a quick dive into the difference between genotyping and sequencing. We are proud to now offer both options. As always, the decision about which test is right for you should be made by you and your doctor.

Learn more at

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