Gene-Based Diagnosis 101: How to Successfully Navigate the Diagnostic Journey

July 12, 2022

As scientific innovation in genomic medicine continues to provide more hope for therapeutic options, there is a growing need for patients and families to understand how gene-based testing can contribute to an accurate and timely diagnosis.

This series of toolkits, videos, and checklists share insights from rare advocates and experts who have personal experience – professional and personal – and will help equip you and your family with the tools needed to start your journey through genetic testing with confidence.


Genetic Testing: Getting to a Diagnosis

It’s important to understand your options and know what questions to ask so you can make the best decisions for you and your family. Learn the basics of genetics, how genetic testing is useful, questions you should ask your genetic counselor, and where to find additional testing resources.

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How a Genetic Counselor Can Help You

Learn more about how a genetic counselor can help you, including when to see (and how to find) a genetic counselor, and what to expect at each stage of the process. You’ll also get information about how to navigate costs and your insurance.

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Diagnosis or No Diagnosis – What To Do Next?

Determine the next steps in your genetic testing journey – whether you receive a diagnosis, or you are still searching. From preparing for your post-test appointment, to understanding your results, this information will help you move forward to manage care, organize your medical information, find people who understand, and cope with what you learn.

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Making Informed and Shared Decisions About Genetic Testing & Clinical Trials

People who participate in their healthcare decisions report a better quality of life, greater satisfaction with treatment, and fewer regrets about their treatment choices. Learn how to better advocate for your health and decisions and what to consider when thinking about gene therapy clinical trials.

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