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Welcome to the Empowered Patient Podcast with Karen Jagoda.  This show is a window into the latest innovations in digital health and the changing dynamic between doctors and patients.

Topics on the show include

  • the emergence of precision medicine and breakthroughs in genomics
  • advances in biopharmaceuticals
  • age-related diseases and aging in place
  • using big data from wearables and sensors
  • transparency in the medical marketplace
  • challenges for connected health entrepreneurs

The audience includes researchers, medical professionals, patient advocates, entrepreneurs, patients, caregivers, solution providers, students, journalists, and investors.

Mar 20, 2022

Sheetal Parmar is the Head of Clinical Services at Natera, a clinical genetic testing company. She draws on her experience as a prenatal genetic counselor to address the need for more accurate and available non-invasive prenatal genetic testing.  This kind of information can guide women and their care teams and can also help emotionally prepare families. Sheetal looks forward to seeing more genetic markers being used to identify other types of pregnancy health.

Sheetal explains, "People want to know, what are all the different options of testing? You can want to know as little information as possible or no information, all the way to "I want all the testing that could possibly be available for me or for the pregnancy." I think those are the type of questions that come up. Or "I have this in my family history. Will this test help me with that?" We want to make sure the right test is ordered based on the information that's needed for that patient based on their values and their beliefs, and what they want to know."

"There has been a significant drop in the number of invasive tests that are done. I recall when I was first starting in practice, I worked with an OB geneticist, and we would do like seven of these a day. Now it might be seven a week, maybe less than that in his practice. It's pretty rare because of the screening tests that are available now, non-invasive prenatal testing is such an accurate screening test compared to what was previously available that there are much fewer false positives and false negatives. Much fewer women are pulled out as a high risk that would then need to be offered to be tested."

#Natera #NIPT #NonInvasivePrenatalTesting #GeneticCounselor #GeneticTesting #GeneticScreening #PrenatalCare

Listen to the podcast here