The Weight of Waiting

After her second birthday, my daughter began displaying mild symptoms of what I feared was a seizure disorder.  As a genetic counselor, I was acutely aware of what another parent may have deemed trivial. I caught an episode on video and a few days later found myself in the waiting room of the best pediatric neurologist in Manhattan. The children in this room were a stark reminder of the news I could potentially face.  I stared at the fish tank fighting back tears until the nurse called my daughter’s name.

The doctor reassured me everything was “probably fine.” The only way to confirm was to admit her to the hospital and monitor brain activity for 24-48 hours.  We checked in, and my daughter got to choose the color of the EEG wires.  She chose “rainbow,” and as they glued the multiple nodes to her scalp, I distracted her with games.

My daughter shared a hospital room with a nine-year-old girl being similarly monitored.  This girl could not speak, and it was clear that my two-year-old was more advanced in milestones.  In conversation, her mom informed me that her daughter had an undiagnosed rare genetic disease. I listened as she unloaded the story of her child’s history, which included multiple visits to physicians, routine EEG monitoring, occupational therapy, daily medications and special schooling. As I waited to learn more about my own daughter’s situation, I briefly shared another mother’s deep sense of uncertainty.

Shivani and her daughter
Shivani and her daughter

When I read the recent New York Times article about DNA testing, I was similarly struck by the shared parental agony of waiting. Dr. Gibbs captures the extent to which parents search for answers: “[driving] across the whole country looking for that one neurologist who can help, or scrubbing the whole house with Lysol because they think it might be an allergy.” In the case of the Sukin family, the wait finally led to a diagnosis and subsequent plans for lifelong dependent care. The article makes no mention, however, of DNA testing for rare disease in the pre-pregnancy stage, when family planning options are more abundant.  For many prospective parents, the sense of urgency to pursue such tests at an otherwise exciting time is lacking.  Planning for a child with a severe disability is unpleasant to ponder.

The fact is, less than one percent of couples will test “high-risk” for a rare recessive genetic disease.  These couples face a 25% chance of having an affected child; hence, “rare.” But if you’re on the other side of those numbers, statistical rarity is irrelevant. For those who would act on the results to pursue alternate routes of family planning—such as IVF with pre-implantation diagnosis, prenatal testing, gamete donation or adoption— it is worth noting that DNA testing can be performed earlier.  Where parents would rather use the information to better prepare for a child with special needs, advanced knowledge of potential complications or treatment options is critical.

In the end, my daughter was in fact, “just fine.”  I still wonder about her roommate and whether she ever stopped waiting for a diagnosis. Uncertainty in parenthood is a given.  But where there is a test that can minimize some of that uncertainty, waiting is somehow far less appealing.

Shivani was born in raised in the suburbs of New York. Her affinity for genetics began in the 7th grade, when her science teacher gave her the litmus test…literally. She completed an undergraduate degree in Biological Sciences from Rutgers University, and a Master of Science from Mount Sinai School of Medicine of NYU. As a board-certified genetic counselor, Shivani has worked in the fields of reproductive, cancer and pediatric genetics at institutions like Mount Sinai and Weill Cornell.  She joined Counsyl in its infancy and has relished the chance to bring genetics to the mainstream. Shivani’s letter to the editor was recently published in the New York Times.

Our New Box

You know how when you give a two-year-old a present, she usually finds the box to be far more exciting than than the present inside? Well, here at Counsyl, we’ve been acting a little bit like toddlers lately. Yes, that’s right – we’re a cutting-edge genomics company that has gotten as excited about the cardboard box as the product that’s contained inside.

You might be wondering how this happened. You see, we’re committed to making our test as affordable as possible, so it’s accessible to everyone. Usually, we achieve this with developers who find more efficient ways to write code to analyze genetic data, and roboticists (yes, that’s a job here!) who re-engineer robots meant to build cars and use them to run our laboratory instead. But for this project it wasn’t just about making us more efficient internally; it was also important for us to improve the user experience for clinicians and patients.

It all started when we went out and saw how clinicians used our Counsyl Test in their day-to-day workflow. While most things were clearly working well, there was plenty of room for improvement. Here is a brief sampling of our observations:

  • The instruction cards we put in each box were useful when a clinician used our test for the first time, but the cards just got in the way once the clinician became an expert.
  • A patient ships their blood or saliva sample back to us in the exact same box we sent out the empty test tube in. The old design wasn’t particularly sturdy, like most cardboard boxes, and would occasionally require a few attempts to close it back up.
  • Space is at a premium in a doctor’s office, and small items can be stacked on a counter or tucked away in a nearby cabinet. Boxes that are too big are relegated to the closet – out of sight, out of mind.

User experience is a high priority at Counsyl, so we wanted to improve our box to make life easier for nurses and patients. At the same time, we wanted to make our package less expensive  in order to keep our test affordable. So, we did what any reasonable company would do: We asked our box vendor to give us a package design usually reserved for luxury products like wine and cosmetics. How can we reduce our costs using more expensive boxes? I’m glad you asked.

Inside of the new Counsyl box
Printing instructions on the inside of the box makes it easier to assemble for our team, and means that nurses have fewer pieces of paper to keep track of.

In true Counsyl fashion, we made it happen with a simple cost-benefit analysis. It turns out these fancier boxes are self-assembling and use magnets to stay together. (It’s seriously magical, just check out the video!) Not only are these boxes easier for nurses and patients to open and close, they are also easier to work with by our team in California, who hand assemble each box. We also removed the instruction cards from the kit and printed them directly onto the box, reducing the number of kit components and conserving resources.

Together, these clever design changes save everyone time, meaning patients get a happier nurse, our team has an easier time putting kits together, and everyone gets on with their day just a little bit faster. We’ve certainly come along way in our box designs – our current iteration is over 80% smaller than the first testing kit we ever shipped and is working better than ever.

We happen to be pretty proud of our new box. What do you think about it? Leave a comment and let us know.

A Genetic Counselor’s New Perspective

Kaylene Ready, Genetic Counselor at Counsyl

Kaylene Ready is a board certified genetic counselor and employee of Counsyl. This is her first pregnancy, and her experience as a patient has provided her with a fresh perspective on her profession.

When you start thinking about having a family and especially when you become pregnant, you begin to dream about your future child – will she look like me? Will she inherit my intensity or be more laid back like her father?  Be a teacher or an engineer?  So many thoughts and hopes crowd your mind, but rarely, if ever, do we ask ourselves if she will inherit a genetic disease.  This is probably because worrying about disease is not very much fun… besides, these days I need to worry about how I am going to keep my breakfast down and how I am going to stay awake through yet another meeting at work.

But then you visit your doctor and if your doctor is anything like mine, you get a big folder with six thousand pages of information (ok, maybe not six thousand, but it’s a lot) about tests you’ve never heard of that are supposed to help tell if the baby is healthy.  One of those tests is for carrier screening.  And in your spare time you’re supposed to figure out which of these tests, if any, you want to pursue.  So instead of going through everything you tell yourself that you don’t have any family history, so there’s nothing to worry about, right?

The truth is, most of you are right, but what if you’re wrong?  As a genetic counselor I’ve seen many families affected by genetic disease.  Most of them are just like you and me – they don’t have any family history, no reason to suspect this would happen to them.  Nonetheless, these unsuspecting families have been devastated by the loss of a child or must grapple with finding resources for children with intellectual or physical disability.  My job is to encourage patients to think about what they would do with the results of a genetic test before they take it.  Fortunately, for carrier screening, there are lots of options.  But my dirty secret is that when I had carrier screening, I wasn’t sure exactly what I would do if I found out I had a high risk.  And this is what I do for a living.  If it’s confusing for me, I can’t imagine how other women must feel.  What I was definitely sure of is that I wanted those options.  I wanted the opportunity to make a plan and I didn’t want to be surprised.

In the end, I found out that I am a carrier of Niemann-Pick Disease Type C, but since my husband tested negative, our risk to have a child with the condition is much less than 1%.  I like those odds.  Knowing – really knowing and not just assuming – that my risk is low, not only for Niemann Pick Type C, but for over a hundred other genetic diseases is comforting.  So now I can get back to worrying about how I’m going to keep my breakfast down…and more importantly, what I will name my little girl when she enters this amazing world.

The Diseases We Test For

Here at Counsyl, we know the decisions couples face in preparation for and during pregnancy can be confusing, if not downright overwhelming. Each test is a little bit different, but it’s not always obvious how they’re different — from when you should get the test to what the results mean, to what you can actually do about the results once you receive them.

Because we can test for over 100 diseases, many people who take the Counsyl test ask if this is the only test they need before and during pregnancy. When we get this question, it makes us realize that we need to do a better job of explaining what, exactly, carrier screening tests for. No single test can catch every possible disease a baby could have. Why? Because, well, there are many types of diseases with different underlying causes. Carrier screening tests for diseases where a healthy parent unknowingly passes a genetic mutation to their child. These mutations, while rarely a problem for the parent, cause a disease in their child. Diseases like this that you may have heard of include Tay-Sachs, Sickle Cell Disease and Cystic Fibrosis. For most of the diseases on the Counsyl test, both parents must be carriers for the same disease in order for there to be a risk to their children.

Counsyl feels strongly that our test should only screen for mutations that cause diseases serious enough that parents may want to make reproductive decisions based on their carrier status. We’ve put a lot of care into deciding which genes meet this requirement, and wanted to share some of our selection criteria with you, so you can understand the Counsyl test a little bit better:

  1. Most are considered serious. Some of the diseases are life-threatening, like MCAD, which causes SIDS and Factor XI Deficiency, the cause of Hemophilia C. Some cause significant physical disability or significant intellectual disability. And some of the more severe diseases are all of the above, like Smith-Lemli-Opitz Syndrome.
  2. A couple can do something about their carrier status. One option is pre-implantation genetic diagnosis (PGD), which can be done if a couple finds out their carrier status before pregnancy. PGD allows them to screen embryos for the disease before implantation.
  3. Some have treatment that allow affected individuals to live typical or near-typical lives. In many cases, these treatments are only 100% effective if begun at birth.
  4. Knowing allows parents to prepare. While some parents may choose to take no action based on positive results, for many of these diseases it can be helpful both emotionally and practically to have a number of months to prepare for a child who will need special accommodations. For example, couples who find out they are carriers of fragile X, the leading known cause of Autism, may be able to connect with community resources, educate themselves and emotionally prepare before the birth of their child.

On the flip side, here are some criteria we do NOT use to choose which genes to test for:

  1. The disease is common. Many of the genetic mutations on the panel are ones that do occur frequently in a population. Cumulatively, one in four people will test positive for at least one disease on the Counsyl test. However, we do not consider frequency to be the only reason to include a disease on our test. Just think – if your baby were suffering from an ear infection, would it matter to you when she was up all night crying if 1 in 5 babies got ear infections, or if 1 in a million did? Probably not. Because our technology allows us to screen for a nearly endless number of diseases for one low price, we feel it is important to screen for known mutations even when they are rare.
  2. We can catch all carriers. Counsyl is a risk-reducing, not risk-eliminating test. No carrier screen can detect 100% of carriers for all diseases. Some of the diseases we screen for can only catch a fraction of carriers, but we believe that the carriers we can detect will want to know.

At Counsyl, we don’t believe genetic testing should be confusing or expensive. We believe genetic testing should be simple, accessible and affordable. That’s why we have board certified genetic counselors to speak with you about your results and why we’re committed to keeping our prices low. If you have questions about the diseases we test for, please leave a comment below or email us at socialmedia@counsyl.com.

Hello World

Welcome to the Counsyl blog!

This website is a place for you to learn about the latest happenings in the world of genetics. If you have taken the Counsyl test, are considering taking the test, or have even a passing interesting in genomics, then this site is for you. In the coming months, you can expect stories on:

  • Families who have been touched by Counsyl
  • Topics our developers are geeking out about
  • New genomics research
  • And much, much more.

If you have topics you want us to discuss, send an email at socialmedia@counsyl.com. Otherwise, stay tuned for more to come!

 

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