Genetic Disorders: Implications for Allied Health Professionals: Two Case Studies

With advances in study of the human genome, increasingly accurate genetic testing has become available. Genetic-based birth defects may result in progressive dysfunction. Consequently, because of the negative associations, many people do not want to consider prognostication testing or accept the most appropriate treatments. The allied health practitioner may see this as counter to the goal of optimal health care. However, consideration must be given to the patient’s comfort with advanced knowledge. In this paper we discuss ethical, legal, and social implications of genetic testing and how these relate to patients seen in an allied health environment. First, background on genetic disorders, their causes, and how they are characterized is presented. Then two case studies are described. One is a 50-year female with Huntington’s disease (chorea), an inherited autosomal dominant condition leading to central nervous system deterioration. The second is a 5-year boy with Stickler syndrome, a hereditary autosomal dominant connective tissue disorder affecting Type II collagen. Symptoms, therapeutic approaches, and long term prognoses are discussed. Working with patients having genetic disorders presents unique challenges for allied health professionals because of the social and political implications of these maladies. Suggestions are provided on how allied health professionals may respond to these issues