Join the movement: Genetic Testing Action Day—July 25, 2025

Genetic Testing Action Day on July 25 encourages families to talk with their child’s doctor about genetic testing if their child is experiencing symptoms that could be due to a genetic disorder

We’re proud to join CureSHANK and fellow rare disease organizations in supporting the first-ever Genetic Testing Action Day on July 25—a national awareness day from the Start Genetic initiative focused on empowering families to talk with their child’s doctor about genetic testing.

At the ASXL Rare Research Endowment (ARRE) Foundation, we know how important a genetic diagnosis can be. For individuals with ASXL-related disorders—Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2), and Bainbridge-Ropers Syndrome (ASXL3)—a diagnosis can be life-changing. It provides clarity, opens the door to research, and connects families to a community that understands.

But too many families still face years of questions without answers. We believe it doesn’t have to be this way.

Why genetic testing matters

Many developmental delays, medical complexities, and neurological differences have a genetic cause. Yet too often, families are unaware that genetic testing is available—or don’t know how to access it. Start Genetic is working to change that.

Their free Parent Toolkit is designed to help parents start the conversation with their child’s pediatrician about whether genetic testing might be right for them. Testing may be appropriate if a child has:

• Developmental delays or intellectual disability

• Seizures, hearing or vision loss, or unexplained medical concerns

• Structural birth differences or movement disorders

• A family history of genetic conditions

• Complex, chronic medical needs

Even if a child has had previous testing, newer technologies may identify genetic changes that older tests couldn’t. A new diagnosis can provide access to support networks, clearer care plans, and the opportunity to participate in research that could shape future treatments.

For families affected by ASXL-related disorders

For many in our community, a genetic diagnosis was the first step toward finding others with the same condition, receiving appropriate care, and contributing to research. If that’s true for you or your loved one, consider sharing your story this July to help raise awareness for other families still searching for answers.

How you can help

• Visit StartGenetic.org to access the free Parent Toolkit

• Use the hashtag #StartGenetic to join the conversation online

• Share how genetic testing impacted your family, whether through diagnosis, support, or access to research opportunities

• Use the Start Genetic Digital Media Toolkit to find images and posts you can share

Together, we can support earlier diagnoses, better care, and brighter futures for families around the world—including those navigating ASXL-related disorders.