When Ashley Pantier and her husband decided to start a family, they were young, healthy, and filled with a sense of joyful optimism. After she became pregnant at 26, she says, she “didn’t see a need to get [genetic] testing done. I was young and healthy; the baby was healthy.”

But when her son Christopher was not walking by 18 months, her “mom alarms” were going off. “We started asking questions because he still wasn’t walking. We went through the pediatrician, the physical therapist, and none of those people brought up carrier screening. It was something that I found on my own.”

A carrier screen is a genetic test that looks at a couple’s DNA to see if they are carrying any genetic mutations that could be inherited by their baby. If both members of the couple have a mutation in the same gene, there is a 25% chance they could pass the associated condition on to their children.

Once Ashley and her husband were screened with Myriad’s Foresight® Carrier Screen, they were shocked to learn that they were both carriers for spinal muscular atrophy (SMA) and had passed it on to their son Christopher. In fact, most babies with genetic conditions are born to parents with no known family history of that disease.1 “When the screening came back, it really helped us to develop a plan of action to get Christopher what he needed.”

Ashley’s journey to a diagnosis for Christopher probably felt like forever to their family. But in the world of rare genetic diseases, it was relatively short. From symptom onset until diagnosis, searching families visit an average of more than seven specialists and spend 4.8 years getting answers.

The great news is: That long journey can be cut down to the couple of weeks it takes for a couple planning a family—or already pregnant—to get their Foresight Carrier Screen results back from the Myriad lab. In fact, in 2017 the American College of Obstetricians and Gynecologists recommended that every pregnant person be offered information on carrier screening and that all patients who are either considering pregnancy or are already pregnant should specifically be offered screenings for SMA and cystic fibrosis.3 In 2021, the American College of Medical Genetics and Genomics issued guidelines recommending that expanded carrier screening, including 113 conditions, be offered to all patients planning a family.4 Most of these conditions are included in the Foresight Carrier Screen.

Once Christopher’s diagnosis was confirmed, the Pantiers swung into action with medical interventions as well as physical therapy. Thanks to this work, Christopher is a fully mobile and active little boy on his crutches.

Further, their knowledge that they were both carriers helped the Pantiers get things in place for the birth of their second child, Emily. “Because we’d had the carrier screen, we could make a plan: [Emily] was tested at three days old, diagnosed at five days old, and treated at 5.5 weeks old, and is living a typical life. The story could have been very different.”

 “There are multiple families going through the same situation where there could have been early intervention,” says Dr. Mary Deka, OBGYN.  “It is so important for us to offer carrier screening because the outcome, especially with conditions like SMA, can affect [families] for the rest of their lives.”

  1. Morris JK, Law MR, Wald NJ. Is cascade testing a sensible method of screening a population for autosomal recessive disorders?. Am J Med Genet A. 2004;128A(3):271-275. doi:10.1002/ajmg.a.30024.
  2. Engel, P. A., Gabal, S., Broback, M. & Boice, N. Physician and patient perceptions regarding physician training in rare diseases: the need for stronger educational initiatives for physicians. J. Rare Dis. 1, 1–15 (2013).
  3. Carrier screening in the age of genomic medicine. Committee Opinion No. 690. American College of Obstetricians and Gynecologists. Obstet Gynecol 2017;129:e35–40.
  4. Gregg AR, Aarabi M, Klugman S, et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) [published correction appears in Genet Med. 2021 Aug 27;:]. Genet Med. 2021;23(10):1793-1806. doi:10.1038/s41436-021-01203-z