Recent advances in genetics have yielded important insights into the etiology of autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDDs). Professional societies such as the American Academy of Pediatrics and the American College of Medical Genetics and Genomics now recommend testing patients newly diagnosed with ASD and some other NDDs with chromosomal microarray analysis (CMA). CMA can identify alterations in the number of copies of various regions in the entire genome for the purposes of comparison with known normal and pathogenic patterns.
About this listing
ELSI in Review is a listing of recently published, systematic reviews of the literature on key ELSI topics curated by CERA staff. Our March 2022 set explores rare genetic diseases, digital phenotyping, results disclosure, and more. If you would like your ELSI-relevant review featured in this communication, please contact us at [email protected].
Why might families affected by a rare genetic disorder look to genetic testing and advances in genetic research? In the lesson, students learn about the successes and challenges facing families as they navigate the world of activism, research, genetics and medicine in search of treatment options.
This lesson examines the many reasons a person may choose to learn about their genetic information. For some, a difficult-to-diagnose disease might be identified thanks to genetic testing, while others use genetics to inform what medicines might be most effective, or to learn about future generations. Students look at several different examples with the goal of considering different perspectives on the application of genetics in medicine.