There are many factors to consider when developing a genetic test or screen. Some common examples include sensitivity, specificity, cost, and turnaround time. Then there’s the one factor that guides everything else, but is more difficult to assess: what is the patient impact?

When it comes to prenatal genetic screening, the potential impact to patients is two-fold because it involves both the patient and the pregnancies they’re carrying. When Myriad Genetics developed its carrier screening, the focus was on delivering an experience and information that would really make a difference for both of these groups.

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According to a survey conducted on behalf of the organization Global Genes, it takes an average of 4.8 years for a patient to be diagnosed with a rare disease from the time of symptom onset. They also found that these patients visited an average of 7.3 physicians before receiving a diagnosis. For the parent and the patient, the waiting time can be difficult – not only because they live in a state of uncertainty by a lack of comprehensive answers to explain their collection of symptoms, but also because optimized treatment may be delayed, which could have a negative impact on the condition.

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Knowing if parents/partners are carriers of a genetic disease can help assess the risk of their pregnancy or future child inheriting the disease. If the results of the carrier screen show a high risk for passing on the condition, options exist such as pursuing IVF with preimplantation testing (among others). Some of these conditions can also be alleviated or even reversed with early treatment. Learning about the risks and options while the pregnancy is still in development can allow for interventions during pregnancy or immediately after delivery, affording opportunities for the best possible outcomes.

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That is the Pantier’s family story. When their first-born showed walking difficulty at 18 months, the mother, Ashley, decided to pursue carrier screening. She found out she was a carrier for spinal muscular atrophy (SMA), a neuromuscular disorder. Her result led her down two paths: screening her husband for the condition and diagnostic testing for her son. As it turned out, her husband was also a carrier of SMA and her son had inherited the condition. With this information, Ashley was able to get treatment for her son and he is now walking with crutches and taking independent steps. When her second baby was born, the baby was tested for SMA soon after birth, given that they already knew both parents were carriers for that condition. Her positive results allowed her to get treatment at 5 weeks of age, and she is now living a typical life with no developmental disabilities. Now, that’s a testament of patient impact!

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As Ashley shared with Myriad, she believes that both the patient and the baby are the provider’s responsibility before and during pregnancy. Dr. Mary Deka, FACOG, also emphasized that genetic screening starts with the provider. Any action taken for a pregnancy this year will impact the next 90+ years of the baby’s life. And certainly, it may shorten the 4.8 years of a diagnostic odyssey, if the baby is affected by a rare disease.

Check out this video to see the full story:

This is just one family’s story, and there are countless others like it for other people who have chosen to undergo prenatal genetic screening. Delivering that kind of benefit to parents and pregnancies is our passion. It’s why at Myriad Genetics we come to work every day.

Learn more about prenatal screening

  1. org/2014/03/06/accurate-diagnosis-of-rare-diseases-remains-difficult-despite-strong-physician-interest/