Single Gene Disease Risk

Abstract

The diagnosis of a child with a single gene disorder can take on different meanings for different families. After a diagnosis is reached, families often face many challenges in the adaptational process. In this chapter we will review the psychological implications of genetic testing for single gene disorders, highlighting similarities to and differences with other chronic illnesses and ways in which the genetic nature of an illness affects adaptation among patients and their families. Further, in light of the emphasis among clinicians and the public for early diagnosis and treatment, we will explore the diagnosis of single gene disorders through newborn screening. Due to the timing of newborn screening, diagnosis of single gene disorders generally precedes the onset of symptoms. This distinguishes newborn screening from traditional pediatric genetic testing and raises a distinct set of concerns for patients, their families, and the health-care system. (PsycINFO Database Record (c) 2019 APA, all rights reserved)