Sema4 is committed to providing science-driven insights and solutions to address the most pressing medical needs. In collaboration with clinicians from the Mount Sinai Health System, we recently published two studies demonstrating the utility of machine learning to predict clinical outcomes for postpartum hemorrhage (PPH), the world’s leading cause of maternal death.
PPH is a preventable medical emergency resulting in excessive blood loss during or after delivery, with or without clinical symptoms. With one to 10 percent of deliveries at risk, PPH is among the top five causes of maternal death globally. It accounts for around a third of maternal deaths and often occurs in patients with no known risk factors for hemorrhage. While PPH is preventable, inconsistent diagnostic guidelines and risk assessment tools make the condition difficult to recognize, diagnose, and adequately address promptly to prevent maternal mortality.
Happy Genetic Counseling Awareness Day! In our second Q&A to mark the occasion, we chat with Mabel Thomas, a Certified Genetic Counselor at Sema4, who delves into her genetic counseling journey, the most rewarding part of her job, as well as career tips and guidance for up-and-coming genetic counselor enthusiasts. Also click here if you want to read our other Genetic Counselor Awareness Day Q&A.
What is your role at Sema4?
I provide remote post-test genetic counseling and guidance to various types of patients and their families in the reproductive setting. I assist patients who are trying to achieve a pregnancy, ones who are currently pregnant, gamete recipients, as well as ovum and sperm donors. I counsel patients on several genetic tests, including Sema4’s Expanded Carrier Screening, which allows me to discuss the risks a patient may have to carry certain genetic conditions and reproductive genetic risks to their potential child. I also assist and guide patients by counseling them on Sema4’s Noninvasive Prenatal Screening and its benefits, through screening and detection of possible risks for potential chromosome abnormalities in their current pregnancy. I focus on informing, guiding, and supporting patients throughout their planning and pregnancy journey, which helps them make informed decisions based on their test results.
It is Genetic Counselor Awareness Day on November 4th. To mark the occasion, we are featuring some of our genetic counselors at Sema4. In our first Q&A, Leslie Aptekar, a Certified Genetic Counselor with over 25 years of experience, discusses how rewarding it is to watch the growth and changes in the field over time, the barriers she’s had to overcome in her career, and what Genetic Counselor Awareness Day means to her.
What is your role at Sema4?
As a manager of the core Women’s Health genetic counseling team at Sema4, I am thrilled to oversee a team of eight genetic counselors, dedicated to providing the utmost support to our patients and providers. I focus on communications for providers and patients, ensuring ordered tests proceed successfully, and helping providers understand the testing process and results.
National Hispanic Heritage Month, an annual celebration that takes place from September 15th – October 15th, pays tribute to generations of Hispanic Americans who have positively influenced and enriched our nation and society. To mark the occasion, we spoke to Dalia Herrera, Business Development Manager at Sema4, about the importance of her roots and her advice on pursuing your dreams. You can also read our previous National Hispanic Heritage Month Q&A by clicking here.
What is your role at Sema4?
As a Business Development Manager at Sema4, I am responsible for many different projects that are directly involved in building new partnerships and channels for the company. Not only do we create partnership opportunities, but we also open up opportunities with multiple healthcare systems to further develop Sema4’s data-centric goals and operational needs.
The American College of Medical Genetics and Genomics (ACMG) recently updated its guidelines on preconception and prenatal carrier screening. In this blog post, we explore these updates and hear from Dr. Marra Francis, Head of Medical Affairs for Women’s Health at Sema4, on what they mean for patients and providers.
Carrier screening is a type of genetic testing that can help individuals understand their risk of passing on a genetic condition to their child. The test analyzes a patient’s DNA to see if they are a carrier of a genetic variant (or change) that could cause an inherited disease in their children. You can learn more about carrier screening here. Medical societies, such as the American College of Obstetricians and Gynecologists (ACOG), recommend that carrier screening be offered to all women who are pregnant or planning for pregnancy. Similarly, ACMG’s position statement, first published in 2013, linked the utility of carrier screening to reproductive decision-making.
ACMG’s 2021 practice resource replaces their 2013 statement and uses more recent evidence to answer emerging questions clinicians and patients should consider during carrier screening. The updated guidance covers optimal panel size, the conditions that should be included, the use of pan-ethnic versus ethnicity-specific panels, the importance of pre- and post-test genetic counseling, and the need for a consistent and equitable approach to offering carrier screening to patients.
National Hispanic Heritage Month, an annual celebration that takes place from September 15th – October 15th, pays tribute to generations of Hispanic Americans who have positively influenced and enriched our nation and society. To mark the occasion, we spoke to Cecilia Scorza, Lab Technologist III and member of the Sema4 Diversity & Inclusion Council, about the importance of her heritage and her passion for STEM.
What is your role at Sema4?
I work in Next-Generation Sequencing as a lab technologist. I work with our Expanded Carrier Screen (ECS) solution, as well as our Hereditary Cancer test. I’ve been able to work closely with the launch of our newly expanded ECS, which covers up to 502 clinically-relevant genetic conditions and personalized residual risks. I really enjoy what I do in the lab and the team I work with.
September is Pediatric Cancer Awareness Month. Sema4 is proud to partner with Beat Childhood Cancer Foundation (BCC), a nonprofit organization, as part of our goal to enable personalized treatment to transform pediatric cancer care.
BCC’s mission is to use precision medicine to bring forward new therapies for children with cancer with the goal of finding a cure for these patients.
In this interview with Beat Childhood Cancer Foundation Founder Patrick Lacey, we cover cancer care, the future of genomics, and what needs to change in the field of pediatric oncology.
Q: What was the impetus for creating the BCC research consortium and the foundation?
Patrick: When I was a first-time father with a six-month-old, my son was diagnosed with cancer and, in the next 18 months, we did everything possible to help cure him. We then were told we had exhausted all options, to take him home and give him quality days. My son had just turned two years old and that was not the answer we wanted to hear. As we looked at other options available, it was a bleak landscape. We wanted to create an organization with a goal of creating treatment options for families.
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.
In the latest blog post from our Product Engineering team, Natalie Perpepaj, a Software Engineer at Sema4, talks about her experience in the health intelligence sector. Click here to read our previous product engineering blog post.
You might be familiar with the phrase “move fast and break things”. It is so widely used now that it has even become a book title. If you are unfamiliar with this popular Facebook motto coined by Mark Zuckerberg, it is the idea that to be innovative, one must move quickly and competitively. In other words, “unless you are breaking stuff, you are not moving fast enough.” This idea stems from the notion that mistakes are outweighed by the discoveries and advances made. A motto like this has worked incredibly well for companies like Amazon, Google, and many others but when we are talking about science and healthcare, should this same mentality apply?
In short, this phrase breaks down in the healthcare industry. If a clinician used that same motto, we would think twice before visiting their office. It could even be said that healthcare standards serve as the antithesis of Zuckerberg’s words. That is not to say that healthcare is approached slowly and with fear, but that greater time, care, and compassion typically need to be folded into each decision and choice, and the same can be said for the engineers in this space. At Sema4, we have a strong commitment to these values by putting innovation, quality, and dependability at the forefront of our decision making and as part of our mission to develop patient-centered health intelligence that advances healthcare.
Preeclampsia is a serious condition that affects some women during pregnancy or in the postpartum period. It is diagnosed by persistent high blood pressure, often accompanied by high protein levels in the urine. The syndrome may lead to severe complications for the mother, including stroke and organ failure, and her child may experience low birth weight and even stillbirth.
Around 1 in 25 pregnancies in the United States are affected by preeclampsia, which is the second leading cause of maternal mortality worldwide. According to the Preeclampsia Foundation, there has been a 25% increase in incidence in the last two decades. A major unanswered question is how to identify which women are at risk.
Dr. Li Li, Sema4’s Vice President of Clinical Informatics, believes that the answer to that question is data – and lots of it. We interviewed Dr. Li about her research, in collaboration with a team at the Mount Sinai Health System, on using predictive models to help identify risk factors for preeclampsia. Read on to learn about how she builds these models and her findings so far.