Happy Genetic Counselor Awareness Day! In the second part of our feature to mark the day, we chat with Mitchell Dillon, a Certified Genetic Counselor and Sema4’s Co-Director of Laboratory Genetic Counseling. Read on to find out what motivates Mitchell, what Genetic Counselor Awareness Day means to him, and more. Also click here if you want to read our other Genetic Counselor Awareness Day Q&A.
1. What is your role at Sema4?
As co-director of the genetic counseling services at Sema4, I oversee daily operations for a growing team of 40+ genetic counselors (GCs), genetic counseling assistants (GCAs), and genetic counseling interns. I also provide decision-making workflow and counseling guidance for our expanded carrier screening (ECS), non-invasive prenatal screening (NIPS), and oncology offerings.
2. What motivates you to work at Sema4?
The field of genetics is constantly evolving; Sema4 is evolving alongside and advancing the field. It’s so great to be part of a cutting-edge company that puts patients first.
It is Genetic Counselor Awareness Day on November 12th. To mark the occasion, we are featuring a couple of our genetic counselors at Sema4. In our first Q&A, Jessica DiGiovanna, a Certified Genetic Counselor, discusses how she helps patients navigate their hereditary cancer genetic test results, what she finds most rewarding about being a genetic counselor, and more.
1. What is your role at Sema4?
As a tele-genetic counselor, I help patients understand their Sema4 Signal Hereditary Cancer test results and if they may have a genetic predisposition to certain types of cancers. If the patient has an increased risk for particular cancers, I provide them with medical management recommendations to help prevent these cancers or detect them at an earlier, more treatable stage. For patients who have an active cancer diagnosis, I help them understand if their genetic test results may influence their cancer treatment options. I also help patients understand the implications their genetic test results may have for their family members.
After entering into a strategic alliance earlier this year with Sema4, we have reached another milestone to accelerate precision oncology care. Our collaboration with Sema4 recently resulted in the launch of one of the most integrated artificial intelligence (AI)-enabled clinical decision support platforms, easing the adoption of appropriate next generation tumor sequencing ordering and targeted treatment in community oncology settings, where the majority of cancer patients are treated in the United States.
Sema4’s next generation sequencing (NGS) cancer test has now been directly integrated into the VieCure platform to streamline ordering and resulting for oncologists. The platform includes our guidance of treatment, prognosis, and clinical trial options regarding the patient’s unique tumor profile, and the discrete data that enables the VieCure AI engine to provide a personalized treatment plan and management considerations for community oncologists.
In honor of Breast Cancer Awareness Month, we were pleased to have the opportunity to interview Jennifer Reynolds, Founder and President of Pink Warrior Advocates, an organization dedicated to providing direct financial and emotional support to women undergoing treatment for a breast cancer diagnosis.
As a breast cancer survivor who later discovered she had a predisposed pathogenic variant, Jennifer discussed why genomic testing for hereditary cancer risk factors is critical to so many people’s health journey.
Why do you think that genomic testing for hereditary cancer matters?
Knowing that you have these hereditary cancer risk factors is powerful information. It allows you, as a patient, to move forward and take control of your health versus your health controlling you.Continue reading “Knowing that You Have Hereditary Cancer Risk Factors is Powerful Information”
COVID-19 testing has been a hot topic since the outbreak of the viral pandemic. Phrases such as “nasal swabs” and “viral genetic material” have moved from clinical vocabulary into the mainstream consciousness, and new tests arrive on the market seemingly weekly. But what do you need to consider if your doctor, employer, or school asks you to get a COVID-19 test? How do you know whether it’s the right type of test? Or, if you can trust the result?
Lab-based PCR Tests
The most common type of COVID-19 test, and the one described as the “gold standard” for its ability to detect even tiny amounts of virus accurately, is called a PCR (or polymerase chain reaction) test. With this test, a swab is taken from the nasal passage or throat by a medical professional. Some versions of the test are approved for use in asymptomatic individuals, while others are intended only for those displaying symptoms.Continue reading “COVID-19 Testing 101: Which COVID-19 Test is Right for You?”
As schools start to reopen across the country, parents have some new concerns to contend with, alongside the usual anxieties about new teachers, classmates, and choosing the right backpack. Could their child catch COVID-19 at school and fall ill? Might they bring the infection home and pass it to vulnerable family members? Will further outbreaks lead to school shutdowns and more missed learning opportunities?
The most recent research indicates that while children can contract COVID-19, their symptoms are, fortunately, usually mild. However, even mildly affected children can spread SARS-CoV-2, the virus that causes COVID-19. A study published in JAMA Pediatrics found that infected children shed (release from their body) at least as much SARS-CoV-2 virus as adults. Children also shed SARS-CoV-2 for a prolonged period, according to research published in the Journal of Pediatrics, and can simultaneously have the virus and antibodies against it (often seen as an indicator of immunity) in their system. Furthermore, an in-depth contact tracing study in South Korea concluded that school-aged children were slightly more likely to transmit the virus to family members in the home than adults.
Since fever is a common symptom of COVID-19, many workplaces and other communal spaces have attempted to minimize the spread of infection by measuring the temperatures of everyone entering their premises. Could this approach help keep COVID-19 out of our schools? Unfortunately, this kind of screening could miss many infected students since not all children with COVID-19 experience fever and infected individuals can spread the virus for days before they feel ill.
The best way to detect COVID-19 is through viral testing, as it does not rely on the identification of symptoms. However, schools currently face two significant obstacles to implementing such a strategy: speed and detection.Continue reading “How Safe is it to Go Back to School?”
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.Continue reading “How Sema4 Expanded Carrier Screening Brought A Family Relief — and Reliable Results”
Today, Sema4 scientists released results from an analysis of patients tested for SARS-CoV-2 at five hospitals in the Mount Sinai Health System. Spanning more than 28,000 patients, this is one of the largest and most racially diverse COVID-19 studies performed in the U.S. to date. The study findings were posted as a preprint on medRxiv.
Our team analyzed de-identified electronic medical records from 28,336 patients tested for SARS-CoV-2 at Mount Sinai Health System hospitals in Manhattan, Brooklyn, and Queens between February 24 and April 15. Of those patients, 6,158 tested positive for the coronavirus and 3,273 were admitted to the hospital.
Consistent with other reports, this study confirmed that COVID-19 prevalence in African Americans and Hispanics is disproportionately high in New York City. However, for patients admitted to the hospital, our analysis found no differences in mortality rates based on ethnicity, indicating that in-patient care helps to address this healthcare disparity.Continue reading “Outcomes Data Published from Large, Diverse COVID-19 Patient Study in NYC”