Bioethics and Medical Ethics Commons^™

The Bioethical Implications Of Genetic Screening Programs For Rare Diseases, Ellie Pitcher, Jeremy Mccallum

Honors Thesis

In the United States, there are currently thirty-five hereditary medical disorders that the Department of Health and Human Services recommends for newborn screening. The early diagnosis of these disorders is critical to the health and well-being of affected individuals. There are many more rare genetic diseases that would benefit from early diagnosis, but which do not symptomatically present until late in life or have low penetrance. Some of these genetic diseases are extremely dangerous, and would massively benefit from the early diagnosis that accompanies newborn screening in the United States. Here the benefits and risks associated with early screening for …