Health care providers who complete this study guide will be able to (1) identify individuals and families who might benefit from genetic services, (2) assist them in accessing these services, and (3) answer questions they might have following a genetic consultation.


This self-study guide is divided into two sections. The first section consists of four lessons designed to increase your knowledge about genetics and teach you skills to identify and refer families for evaluation. Key words and concepts in these lessons are in bold type. The second section is made up of five appendices. In this section you will find reasons for referral, a glossary, a list of resources, and educational tools to use when working with your patients and their families.

Each lesson consists of a number of sections and a posttest. Most sections are followed by a summary and practice activity. The practice activities and posttests are included so you can confirm that you have mastered the core information in each lesson. If you find you are unable to answer the questions in these sections we would encourage you to re-read the relevant text.

Recognizing the wide variety of educational experiences of health care providers, each lesson addresses a specific topic or genetic concept and was designed to stand alone. While this makes it possible for you to study only one or two lessons, you will find that some topics are covered in more than one lesson. For example, Huntington disease is mentioned under Mendelian inheritance, nontraditional inheritance, DNA molecular diagnosis, presymptomatic testing, ethical and social issues, and the grief process to illustrate each concept.

This self-study guide was designed for health care providers who have a minimal genetics background. If you fall into this category, you are encouraged to study all four lessons. However, if you have a basic understanding of genetic concepts and a variety of professional experiences, you may find it helpful to review the lesson summaries and study only those lessons that meet your current educational needs.

While this is not meant to be a comprehensive genetic text, some detail has been provided about specific tests and technological advances. If you are working with a family that chooses to pursue genetic testing, it is the authors' hope that a review of the pertinent sections will provide you with the information you need to understand and answer your patient's questions. As genetic testing is not yet a common practice, you have the option of skipping to the summary in the more technical sections if you simply want an overview of the technological advances occurring in the field of medical genetics.

Again since this is not meant to be a comprehensive text, the genetic conditions mentioned are not presented under disease categories or organ systems and no attempts have been made to provide complete clinical descriptions. The annotated bibliography provides appropriate references.


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Debra Collins, M.S. CGC, Genetic Counselor,


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