Carrier testing in real life

Curious about the impact an expanded carrier testing approach would have in practice? We have answers.

Many people do not know their exact ethnicity or may be a mix of multiple ethnicities. Therefore, there is limited utility in targeting testing by ethnicity alone. Scientific and technological advances have improved our knowledge of genetics and health, including the continued understanding of genes and their relationship to health.

We looked at >700 carrier couples and >500 females to find out what happens when providers expand traditional parameters for testing.

What did we find?

  • 6% of >700 couples were both carriers for the same autosomal recessive disease.1
  • About 6% of >500 females were carriers for a X-linked condition.2
  • Over 60% of the diseases identified in couples were ones that are only tested on larger panels.1
  • Almost 30% of at-risk couples reported a mixed/other ethnicity or did not report ethnicity at all.1

Clinical Experience-Expanded Carrier Testing

Poster

Data on females referred from a single provider for carrier testing were presented at the 2018 American College of Obstetricians and Gynecologists (ACOG) Annual Meeting.2

Download the poster

Carrier Testing Poster

Poster

Data on reproductive couples referred from multiple providers for carrier testing were also presented at the 2018 American College of Obstetricians and Gynecologists (ACOG) Annual Meeting.1

Download the poster

Matt Tschirgi Progenity MSL

Have questions?

Dive deeper on how this research uniquely impacts your practice by contacting us. We’ll give you direct access to our researchers.

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References

  1. Swope et al. What are you missing? Routine carrier testing identifies at-risk couples. Poster presented at ACOG 2018. Austin, Texas.
  2. Tschirgi et al. Clinical experience of expanded carrier testing for routine preconception and prenatal care. Poster presented at ACOG 2018. Austin, Texas.

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