PIRC at ACMG 2017

MA ACMG2017We had a great time at the 2017 meetings of the American College of Medical Genetics and Genomics (ACMG), in Phoenix, Arizona. ACMG is a great meeting to learn about new and ongoing issues in medical genetics, including the many new developments in prenatal genetics that are important to our research group.

MM ACMG2017We’re happy to report that the issues that concern us also concern other folks at ACMG. PIRC members Megan Allyse and Marsha Michie were invited to give presentations on ethical and social issues in prenatal cfDNA screening to the OB/GYN Special Interest Group this year, and received many great questions and comments from clinicians who want to see this technology responsibly implemented. PIRC members also were represented in at least 2 poster presentations.

Megan Allyse, Stephanie Kraft, and Marsha Michie presented a poster titled “The Effects of Allyse-Kraft-Michie ACMG 2017 thumbnailDelivery Context on Women’s Experiences of Prenatal cfDNA Screening: A Tale of Two Studies,” which showcased data from our ERRORS and KEAPS studies. These data highlight the importance of pre- and post-test counseling and informed decision-making for prenatal cfDNA screening. Click on the thumbnail at left if you’d like to view the full PDF (5.8 MB).

Allyse-Jaramillo-Egginton-Phelan ACMG 2017 thumbnailMegan Allyse and colleagues from the Mayo Clinic also presented a poster on the experiences of families after receiving a diagnosis of sex chromosome aneuploidy. Families are increasing receiving this information prenatally through prenatal cfDNA screening. Since many of these conditions are poorly understood, more research is needed to understand the phenotypes of sex chromosome conditions and the effects of receiving this diagnosis. This poster is an early product of the OXYGen study. Click on the thumbnail at right if you’d like to view the full PDF (3.3 MB).

All in all, PIRC was well-represented at ACMG this year, and we look forward to next year’s conference in Charlotte!

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