Sema4 Elements™

Patient Perspectives

How Sema4 Elements™ Expanded Carrier Screening and Pregnancy Journey Resource Helped a New Mom-to-be Find Comfort

Posted by Natasha Herdegen

Carrier Screening can help determine if someone is a carrier of a genetic condition that can be passed on to their future child. Because of the impact this information may have on a baby’s health, professional guidelines recommend genetic carrier screening for women who plan on becoming or are currently pregnant.

Sema4 is committed to helping these women understand, through carrier screening, their risk for passing on a genetic disease and, by using our Pregnancy Journey resource, the changes they and their developing baby may go through during pregnancy.

Kim S.* recently discussed her pregnancy experience to enable others to understand the importance of carrier screening and how Sema4 provides a supportive experience.

Leveraging Sema4 Elements Expanded Carrier Screening and Genetic Counseling

Having faced some challenges becoming pregnant, Kim and her husband were very happy to learn that they were finally going to have a child. As part of Kim’s prenatal care, her doctor recommended a Sema4 Elements Expanded Carrier Screening panel based on her age of 35+, her chronic hypertension, and the fact this was her first pregnancy. Kim had a simple blood draw and within approximately two weeks she received an alert that her results were ready in the Sema4 Patient Portal.

Kim met with a Sema4 Genetic Counselor (GC) to review her results. Given that English is not her native language and many U.S. medical terms are unfamiliar to her, Kim had a lot of questions around carrier screening in general, in addition to specific questions around her results. She was concerned that her questions were too basic, but the GC she met with made her feel very comfortable. “The GC was very kind in explaining everything to me and happily addressed every question I had,” Kim said.

During her counseling session, Kim learned she had tested positive for Zellweger Syndrome. This genetic condition can impact brain, liver, and kidney function and affect a child’s ability to eat or move. It is a condition for which there is no treatment or cure. At the recommendation of her care team, Kim’s husband underwent expanded carrier screening to see if he was also a carrier for Zellweger Syndrome. If he was, the chance of them having an affected child would markedly increase. Fortunately, he tested negative. As first-time parents-to-be, receiving their carrier screening results helped relieve their anxiety.

Benefiting from Sema4 Pregnancy Journey resource

In addition to undergoing expanded carrier screening, Kim also relied on Pregnancy Journey, Sema4’s interactive educational pregnancy resource that helps guide patients through having a happy and healthy pregnancy. In addition, the tool gives users the option to integrate their health data to track vitals over the course of pregnancy.

“I liked that Pregnancy Journey told me how big my baby is on a weekly basis and what symptoms I might be experiencing. The symptoms section was my favorite part because it could be scary if you have a headache or edema while pregnant, so knowing it’s typical for certain stages of pregnancy was comforting.” In addition, Kim found the pictures and content clear and easy to understand, making it her preferred pregnancy tool. “The biggest advantage as a foreigner is that it helped me know how to explain to my doctor what symptoms I was experiencing at my check-ins.”

For more information on Sema4 Elements Expanded Carrier Screen solution, please visit sema4.com/carrierscreen. For more information on the Pregnancy Journey resource, please visit sema4.com/womens-health/pregnancy-journey.

*Per Kim’s request, we have changed her name to protect her identity.

How Sema4 Expanded Carrier Screening Brought a Family Relief – and Reliable Results

Posted by Natasha Herdegen

For two years, Elizabeth and Michael* lived with their daughter’s diagnosis of Gaucher disease, a genetic disorder that impacts many of the body’s organs and tissues. They anxiously watched Sophie’s development through infancy into toddlerhood for early signs and symptoms. They engaged with disease advocacy organizations and patient communities, found specialists they trusted, and prepared as best they could for the financial crush of biweekly intravenous infusions that Sophie would eventually need to cope with her illness.

However, Sophie never had Gaucher disease. Her diagnosis was the result of a false positive on a lab test, caused by a nonfunctional piece of DNA called a pseudogene.

Uncovering the unexpected

When Elizabeth was pregnant with Sophie, she found out through a targeted carrier screen for people of Ashkenazi Jewish descent that she was a carrier of a relatively mild version of Gaucher disease. Carriers themselves are unaffected; it’s only when someone inherits the disease-causing variant from both parents that he or she will develop the disease. Gaucher disease affects the spleen, liver, and bone marrow and is a variable onset disease, which means symptoms may appear anytime during childhood or even early adulthood. While treatable, treatment for most people means intravenous infusions every two weeks for life. On top of the emotional and physical stress of this disease, treatment is very expensive, running into hundreds of thousands of dollars per year for a single patient – a heavy financial burden that many people cannot afford.

As Gaucher disease is most commonly associated with Jewish ancestry and Michael is not Jewish, they were advised that the chance of him also being a carrier was extremely low and he did not need to be screened.

It was not until after Sophie was born that it was suggested, by her pediatrician, that Michael should also get tested. He did and his results stated that he was a carrier of a far more severe type of Gaucher disease.

“We were shocked and scared,” Elizabeth remembers. Based on those results, their daughter suddenly had a 25% chance of developing this disease. They immediately had Sophie tested, and while enzyme function tests were in the low-normal range, which is indicative of carrier status, genetic testing indicated that Sophie had apparently inherited Gaucher disease-causing mutations from both her parents.

“We had this perfectly healthy baby girl, but this feeling of impending doom that she was going to become sick,” Michael says. They worked with specialists and established regular visits for screening tests to spot signs that the disease was manifesting.

A new lease on life

Eventually, Elizabeth and Michael decided they wanted to grow their family and have another baby. After exploring their options, they decided that pursuing in vitro fertilization (IVF) with pre-implantation genetic diagnosis would be the safest way to make sure their next child wouldn’t have the same disease. As part of that process, the couple opted to do an expanded carrier screen, this time using Sema4 to generate results for both parents.

Unexpectedly, the Sema4 results showed that while Elizabeth was a carrier, Michael was not. The couple worked closely with Lama Elkhoury, Director of Genetic Counseling Services at Sema4, to get to the bottom of these discrepant results. Extensive follow-up testing in the Sema4 labs, this time for all three family members, determined that the variant shared by Michael and Sophie was not located in the gene responsible for Gaucher disease.

Instead, it was in a hybrid copy of a pseudogene, a non-functioning gene that has remarkably similar DNA; when lab tests are less precise, it’s all too easy for them to mistake pseudogenes for closely-related disease-causing genes. Sema4 deploys multiple advanced technologies to ensure the most accurate and reliable results for all of its genetic tests. Third-party testing at another lab ultimately confirmed Sema4’s findings.

As a full-service laboratory with deep roots in academia, Sema4 was also able to repeat Sophie’s enzyme analysis in-house. Once again, her levels were in the range expected for a carrier – and this time the genetic testing results matched up. Sema4 had demonstrated that Michael was never a carrier, and that Sophie herself only had the variant from Elizabeth. Like her mother, she will live out her life as a carrier unaffected by the disease.

Following the results of their expanded carrier screen, the couple decided to forego IVF and conceive their child naturally. Soon after, Elizabeth gave birth to a healthy baby boy.

“We wanted to share our story in the hope that it might help other families who may be living with false positive results from older, less accurate genetic tests. We are so grateful to Sema4,” Elizabeth added.

 

*Per the family’s request, we have changed their names to protect their identity.

For more information on Sema4’s Expanded Carrier Screen solution, learn more here.

 

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