The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care

Kaul, Karen L.; Sabatini, Linda M.; Tsongalis, Gregory J.; Caliendo, Angela M.; Olsen, Randall J.; Ashwood, Edward R.; Bale, Sherri; Benirschke, Robert; Carlow, Dean; Funke, Birgit H.; Grody, Wayne W.; Hayden, Randall T.; Hegde, Madhuri; Lyon, Elaine; Murata, Kazunori; Pessin, Melissa; Press, Richard D.; Thomson, Richard B.

Despite the characteristic clinical features (the movement disorder [chorea] along with intellectual decline), and lack of preventive or curative treatment for HD, genetic testing is widely relied upon by HD families and their physicians. Onset of symptoms is often insidious and nonspecific, and definitive early diagnosis can only be accomplished at the DNA level. 132 Presymptomatic testing, which is offered to the adult offspring of patients with HD (who are at 50% risk of inheriting this autosomal dominant disease), can only be accomplished using LDPs and allows crucial life-planning decisions, such as educational pursuits and career choices, marriage, and whether to have children (and if so, affording the ability to pursue prenatal diagnosis) and whether to begin planning for inevitable disability. Without this test, all of these at-risk relatives (of which there are an estimated 200 000 in the United States) 137 would lead their lives anxiously waiting for the symptoms to begin, when half of them are actually at no risk because they did not inherit the mutant gene from their affected parent.