Date of Completion
Dr. Jeremy McCallum
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 rare genetic diseases are analyzed, using the four fundamental principles of medical bioethics – autonomy, justice, beneficence, and nonmaleficence – as a guidelines and hereditary hemochromatosis as a case study. Hereditary hemochromatosis is the most common rare genetic disease in people of Caucasian descent; however, it is not on the United States newborn screening panel. Advanced disease can lead to liver and heart failure, osteoporosis, arthritis, and a variety of other severe and fatal conditions. After careful analysis, it is clear that the benefit of early diagnosis to affected individuals and scientific research as a whole far outweighs the minimal risks associated with screening for hereditary hemochromatosis. A basic plan for establishing a hereditary hemochromatosis screening program in the United States is then proposed, followed by steps for advocating the addition of other rare genetic diseases to the panel.
Pitcher, Ellie and McCallum, Jeremy, "The Bioethical Implications of Genetic Screening Programs for Rare Diseases" (2020). Honors Thesis. 412.