Clinical Genetics Objectives Lectures 2628临床遗传学目标讲座2628.ppt

Clinical Genetics I ObjectivesLecture 23 Know HOW to take a family history, and WHY Know what genetic counseling is, and what the indications for genetic counseling are Know how to apply Bayes’ theorem to problems in clinical genetics FAMILY HISTORY—WHY should you take one ? Diagnosis Prognosis Prevention and Avoidance of genetic disease Familial Hypercholesterolemia Taking the Family History Make it relevant to the “Present Illness” Ask about early-onset, preventable illness Ask specifically about 1st degree relatives Ask about informative relatives Record ethnic or ancestral background where relevant Inquire about consanguinity Keep it up-to-date The importance of relevant negative information Obligations for relatives Genetic Counseling Genetic counseling is a process of communication that deals with the human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family. It is intended to provide such individuals and families with information about their condition, to explore the personal consequences of this information, and to aid families at risk to make informed reproductive decisions. Goals of genetic counseling are to help individuals and families to Comprehend the medical facts including diagnosis, prognosis and management Appreciate the way heredity contributes to the disorder and risk of recurrence Understand the alternatives for dealing with these risks Choose the course of action that seems appropriate for the individual or family being counseled Make the best possible adjustment to the condition or the risk of its recurrence Process of genetic counseling Nonjudgmental and not directive Dealing with guilt, anger, frustration, and anxiety Candor and honesty Communication and information transfer Social and other support services Team effort to promote patient autonomy and psychosocial adjustment Medical (and Genetic) Decision Making--Bayes’ Theorem-- Rev.Thomas Bayes 1701-1761 How should a person update