Genetics Pedigree

Take a family history and develop a three generation pedigree for yourself (or a patient) using standardized symbols and terminology. Include a diagram that reports the relationships between family members and the pathophysiological processes. Change the name of family members to maintain confidentiality. This website may be helpful http://www.dhhs.gov/familyhistory/. This assignment should include the following components: 1. A pedigree diagram of the family. The diagram should use standardized human pedigree nomenclature based on the National Society of Genetic Counselors guidelines. Identify the proband or subject of the family history. The pedigree should document the relationships between family members and disease phenotypes or pathophysiological processes that are present. The pedigree can be prepared in a variety of way including: a. Prepared by hand on a standard 8.5x 11 inch sheet of unlined paper. Create a color or shading key to indicate the phenotypes of interest within the family. You can scan this document in as a pdf and submit with your paper. b. The My Family Health History site allows you build a pedigree to export your family history but it is a database file. c. You may find another electronic pedigree builder that works for you. 2. A written paper that includes the following sections: Family Background (1 paragraph) Include a thorough description of the family background in narrative form. This can be one paragraph that includes information on the age of the patient, ethnic/racial background of the family, geographic location, family dynamics and other pertinent general information. Genetic Predispositions/Problems Detected (2-3 paragraphs) Include a summary description of any disease phenotypes or genetic tendencies identified. Discuss any patterns of inheritance that are present (ie. Dominant/Recessive etc.). Include a discussion of specific genetic pathophysiology if applicable (ie. What is the underlying genetic basis of any disease phenotype within the family? Is there a genetic mutation that results in production of an abnormal protein? etc.) Include a brief summary of any current research related to the disease or problem. Describe any racial/ethnic predispositions that are related to the disease or problems identified. Discuss the risk of developing the disease for family members. Management Plan (1-2 paragraphs)