Ambry Seeks to Expand Access to SMA Prenatal Screening
Diagnostic testing company Ambry Genetics has launched a reproductive health program to increase access to carrier and prenatal screening for genetic disorders such as spinal muscular atrophy (SMA).
The Comprehensive Assessment Risk and Education (CARE) program seeks to enhance the availability of carrier screening and non-invasive prenatal testing (NIPT) to help families make informed reproductive decisions.
Specifically, the program’s digital platform supports genetic education, testing, reporting, and counseling, and streamlines the provider experience.
“We want to eliminate barriers to genetic screening so patients have the best information to inform their reproductive journey,” said Tom Schoenherr, CEO of Ambry Genetics, in a press release. “With digital technology, we help busy physicians standardize and optimize processes so they can provide more equitable care through this reproductive health screening program.”
Importance of carrier screening highlighted
In its announcement, Ambry cites the position of the American College of Obstetricians and Gynecologists that all pregnant women be screened for common chromosomal disorders — preferably through NIPT, due to its specificity and sensitivity — and that carrier screening be universally offered, ideally before pregnancy. The company also referred to the American College of Medical Genetics and Genomics, which has underscored the importance of carrier screening and NIPT in family planning as well.
Carrier screening can let couples know if they are at risk of having a child with specific genetic disorders. Those found to be at risk should receive genetic counseling as well as information about family planning options, Ambry stated.
Genetic testing is the most accurate method for diagnosing SMA, which is characterized by progressive muscle disease and atrophy. It is also highly effective in identifying carriers, who have a single mutated copy of an SMA-causing gene and generally experience no ill effects from their carrier status. However, they can pass the disease to their children.
Identifying SMA carriers can inform family planning decisions by assessing the chances their children will be affected by SMA. It could also help to determine whether other relatives may have inherited the disorder.
However, there are barriers to carrier and NIPT screening, according to Ambry. For physicians, these include time constraints and limited resources, which ultimately affect patient education, testing coordination, and the provision of genetic counseling.
Many people don’t understand the purpose of genetic testing — “many women who do undergo testing later report being unaware of what the test was for or what the results meant,” according to a 2016 study of 210 patients and 45 healthcare providers. That study sought to assess how obstetric healthcare providers counsel patients about prenatal genetic screening, and how such discussions influence patients’ decisions about screening.
Moreover, a recent study found that participants who lived in zip codes with greater proportions of African American and Hispanic/Latino residents were significantly less likely to receive non-invasive prenatal testing.
The CARE program includes a patient portal that educates, guides, and supports patients through family planning and prenatal testing. It covers reproductive and carrier screening, the meaning of test results, and access to post-test counseling, resources that can help physicians guide patients in their family planning and pregnancy care.
The program also includes a provider portal that illustrates where each patient is in their reproductive health journey.
In addition to SMA, the CARE program includes screening for cystic fibrosis, fragile X syndrome, and other conditions. Along with pre-natal testing, the platform identifies those who may be at risk for hereditary cancer.
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