Technology has advanced tremendously over the last decade. The costs of tests are decreasing. Genetic testing is on the rise, but it is still unfamiliar territory for most patients and caregivers and even many physicians. We wrote this guide to help you understand your options and make good decisions. Only you can d…
Since most rare diseases are caused by changes in your genes, genetic testing is often part of the journey. But understanding your options may be challenging. Partnering with a genetic counselor can help you make the best choice for you and your family. **What is a Genetic Counselor?** A genetic counselor is a h…
![][1] **Introduction** **The Rationale for Newborn Screening** Newborn screening is one of the most effective core public health programs in the United States, having existed since the 1960s based on a blueprint developed by the American Academy of Pediatrics. Newborn screening involves administering tests to all…
Will genomic sequencing or genetic testing give you and your family the answers you seek? And what happens when the results come in? In this discussion, learn what types of testing are available for rare diseases and what data or diagnoses they may show. Hear stories from families who have gone through testing and how…