Six people in a group

The Intersection of Genetics and the Disability Rights Movement

HDI’s Medical Outreach Director, Stephanie Meredith, and colleagues, Dr. Kara Ayers Associate Director of the University of Cincinnati UCEDD; Dr. John Constantino, Director of the Washington University in St. Louis Intellectual and Developmental Disabilities Research Center, Dr. Igna Van den Veyver a leading Maternal Fetal Medicine Specialist from Baylor College of Medicine; Katie Stoll, Executive Director of the Genetic Support Foundation; and Dr. Marsha Michie, an anthropologist from Case Western Reserve University presented on the intersection of disability and genetics at the annual American Society of Human Genetics meeting in Houston, TX on Friday, October 18. This presentation was made possible by ASHG, in collaboration with the Association of University Centers and NICHD.
Approximately 300 medical professionals attended this session that discussed the value of technology, the need to remember the patients at the other end of tests, and the prioritization of our collective humanity. “Nothing About Us Without Us!”, was a core message of this presentation that identified tools and strategies to provide a forum for the voices of people with disabilities and their families, in conversations about genetics and medical practice. The meaningful dialogue focused on how to intentionally include the perspectives of people with genetic conditions (and their families) when creating guidelines and public policy–and to make that happen by acknowledging the painful history of stigmatization and abuse endured by people with disabilities throughout history and then building relationships with the medical community and putting humanity first. Continue reading

Parents with baby with Down syndrome

Fall Research Brief 2019

Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations in providing patient education resources
Research Brief by Stephanie Meredith & Mark Leach

Cell-free DNA prenatal screens (also known as NIPS or NIPT) were released in the US by commercial labs eight years ago as screening tests for conditions such as Down syndrome, Trisomy 18, and Trisomy 13. When these screens were originally released in 2011, they were largely covered in the media as non-invasive prenatal diagnostic tests that could detect conditions with a simple blood draw. However, even though cell-free DNA noninvasive prenatal screens are more sensitive than traditional screening tests, there are still chances for false positives and, less often, false negatives. Therefore, they are considered screening tests and are not actually diagnostic (Mozersky, 2012). The introduction of this new technology and some of the confusion surrounding it prompted national medical and genetics societies to issue guidelines about the administration of these screens. Continue reading

Updated “Understanding a Down Syndrome Diagnosis” book Available Now

The nationally recommended book for new and expectant parents learning about Down syndrome, Understanding a Down Syndrome Diagnosis, from the Lettercase National Center for Prenatal and Postnatal Resources at the University of Kentucky’s Human Development Institute, has been recently updated with unprecedented collaboration from leading experts across the nation to improve the diagnosis experience for families.  Continue reading

Andy Meredith with camera.

HDI Fund for Excellence Awarded for Expanded Photo Library to Improve Representation of Diversity, Employment, and the Lifespan

HDI’s Stephanie Meredith and Harold Kleinert recently received the HDI Fund for Excellence award to expand our photo library of people with disabilities from diverse backgrounds for the entire Institute and also the National Center for Prenatal and Postnatal Resources. These photos play a critical role in portraying diverse people with disabilities across the lifespan as active participants in an inclusive world. Continue reading

HDI Shares Importance of Giving Updated Information With Genetic Diagnoses

When parents first hear the news that their child has a genetic condition, they want support and accurate and up-to-date information right away. They fundamentally want to know what life is like for people living with those conditions. However, sometimes they may receive outdated information or resources that leave them frustrated and confused. Parents may also receive a list of medical conditions associated with a condition without information about life outcomes and social supports. Continue reading