The Pros and Cons of Expanded Carrier Screening with Mary Norton, UCSF

Mary Norton, Perinatologist and Clinical Geneticist, UCSF

Bio and Contact Info


0:00 The wild west of carrier screening — it would seem that more is better

5:16 The pros

9:36 The cons

16:07 The high expectations of today’s patients

25:54 Recommendations

Mary Norton is a perinatologist and clinical geneticist at UCSF who says that in the age when we are diagnosing ever more rare diseases, adding to the carrier screening panel can be a good thing, but it’s complicated.

But it can be a good thing.

But it’s complicated.

Traditionally carrier screening was limited to ethnic groups, Mary tells us at the beginning of today’s interview, but has now been expanded to what’s called universal screening. The question for OB/Gyns like her is calling the limits on the panel. And it’s not just docs, labs or scientists who are savvy as to the latest conditions studied. Today’s patients expect the full treatment. Explaining that more is not always better can be a tough sell.

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