With new treatments for spinal muscular atrophy (SMA), screening isn't just knowledge. Carrier screening means informed decisions and the opportunity for earlier, more effective, treatment; it means the chance to change the course of a child's life.
The basics of SMA
What is SMA?
Spinal muscular atrophy (SMA) is a genetic condition that causes the motor neurons in the spine to shrink and die. These neurons communicate with the muscles that control walking, movement of the arms, head, and neck, as well as swallowing and breathing. As the neurons die, the muscles progressively weaken and waste away.1
Learn about SMA and the need for screening through Lola's story.
"It went from, 'I'm going to coach her soccer or softball team'... to 'I'm going to coach her how to roll around in a wheelchair, and maybe one day she'll walk.'"
—Brady Camp, father of Lola (born with SMA)
SMA by the numbers—the statistics tell the story
What causes SMA?
SMA is a recessive genetic disorder. To develop SMA, a child needs to inherit two missing or faulty SMN1 genes—one from each parent.
An individual without SMA has at least two healthy copies of the SMN1 gene, generally one on each chromosome; an SMA carrier has only one healthy SMN1 gene and one missing or faulty one. 2
Is there treatment for SMA?
While there is no cure for SMA, two commercially available treatments are showing promising results:
Spinraza was the first FDA-approved drug for SMA. It is given by intrathecal injection and must be taken for the duration of a child’s life.
Zolgensma is a one-time IV gene therapy for children under 2 years old.3
In either case, the earlier treatment is given, the more likely it is to make a significant difference.
Just approved: On August 7, 2020, Genentech announced FDA clearance for Evrysdi; once commercially available, it will be the first and only SMA treatment to be administered at home.
Three reasons to offer carrier screening
#1 Per ACOG, carrier screening is not just a nice-to-have; it’s now best practice
In 2017, the American College of Obstetricians and Gynecologists (ACOG) began recommending SMA screening for all women considering pregnancy (ideally) or already pregnant, regardless of ethnicity or family history.4
A contributing factor: Since ~1 in every 50 Americans is a carrier,2 it’s entirely feasible that two carriers can meet and conceive.
#2 Carrier screening enables more-informed decisions and better preparation
When performed before conceiving, carrier screening arms couples with knowledge, and the opportunity to pursue alternate reproductive options. Carrier screening during pregnancy can also have life-altering benefits: It can help couples decide on diagnostic testing, and if necessary, help them prepare emotionally, medically, and financially for a baby with SMA.5
Hear from experts on how carrier screening can help your patients.
#3 Carrier screening facilitates earlier treatment, leading to better outcomes
With SMA, when treatment is given makes a difference. “The speed to treatment is big,” explains Elizabeth Kichula, MD, PhD, Children’s Hospital of Philadelphia. “Every week, every month ... they lose motor neurons they’re not able to get back.” 6
If diagnosed prenatally, SMA treatment can begin within days after birth. If not tested until birth, milestones lost while waiting for diagnosis and treatment become permanent. Because of this, newborn screening alone is not sufficient. 3
Why choose Horizon carrier screening
Horizon’s leading-edge technology delivers exceptional breadth and depth
Natera’s advanced carrier screening, Horizon, screens for up to 274 genetic conditions. Horizon’s trusted technology includes next-generation sequencing (NGS) and enhanced SNP-based technology, providing comprehensive screening and a high detection rate for carriers of SMA.
Traditional screening misses ~60% of patients Horizon identifies as at risk7
Traditional SMA screens count only the total number of healthy SMN1 copies.8 However, as ACOG notes, some individuals have two healthy SMN1 copies—but on the same chromosome. They are silent carriers. By simply counting healthy copies, traditional SMA screening does not identify these people.9
Learn how Horizon detects more carriers across SMA and other conditions.
Services to support carrier screening, every step of the way
Discover our integrated support resource, NateraCore
With NateraCore, we help Horizon carrier screening fit seamlessly into your workflow. Created to make testing easy for you and your patients, NateraCore provides a selection of tools and services for every point in a patient’s journey—whether remote or in-person.
The following are just a few examples of how Natera supports your practice:
- Interactive results delivery through NEVA, Natera's Educational Virtual Assistant, gives patients easy access to results, genetic education, and guidance on next steps, available 24/7.
- Partner Auto-Enroll provides automatic enrollment for partners of patients with positive Horizon results—all you do is select the panel and sign the order.
Learn how we make it easy to offer screening by supporting your needs.
Easily implement carrier screening into your practice, with Natera Academy
The Natera Academy program outlines the basics of offering carrier screening to patients—from addressing concerns and discussing results with patients, to delivering foundational genetics and testing information.
Watch our webinar on how to offer carrier screening to patients.
In the Prospera early access program, Natera has received tests from 45% of the top 50 and 37% of the top 100 transplant centers by volume
Natera May 4, 2020 Press Release