Covers current concepts regarding mitosis, meiosis, the cell cycle, and chromosome ultrastructure and function. Clinical disorders caused by chromosomal aneuploidy, duplication, and deletion, and principles of Mendelian, chromosomal, and multifactorial and nontraditional inheritance are presented and illustrated.

Principles and techniques of prenatal, neonatal, and carrier screening. Infertility, pregnancy, and delivery. Normal and abnormal prenatal growth and development. Reproductive and fetal effects of drugs, radiation, infections, and other environmental factors.

Inheritance, diagnosis, natural history, management, and counseling considerations for commonly encountered genetic diseases, birth defects, and dysmorphic syndromes.

Aspects of biochemistry and metabolism are reviewed with special emphasis on genetic abnormalities which lead to inborn errors of metabolism. Diagnostic procedures, heterozygote detection, treatment, counseling issues, and prenatal diagnosis are reviewed.

Derivation of different types of DNA probes and DNA libraries, restriction endonuclease polymorphisms, assignment of genes to chromosomes, and genetic linkage. Emphasis on the use of recombinant DNA technologies and genetic analysis for diagnosis of human genetic disease.

Quantitative aspects of human genetics, including population studies, segregation analysis, linkage, mapping, and genetic risk determination.

Issues in genetic counseling for cancer. Cancer biology; genetic mechanisms and environmental influences in carcinogenesis; tumor pathology; cancer gene mapping; epidemiology. Features natural history, diagnosis, prevention, surveillance, and management of heredity cancers. Psychosocial, ethical, legal aspects of cancer risk assessment.

Quantitative and qualitative methods for genetic counseling research. Reference management; statistics: sample size, power, and data analysis; reliability and validity; surveys, questionnaires, interviews, focus groups; quality of life and genetic epidemiology research; designing a research protocol; IRB issues; grant writing.

Practical aspects of genetic testing including cytogenetic and molecular nomenclature and testing technologies, analysis of genetic test reports, roles of laboratory counselors, strategies for working with laboratories, fundamentals of billing/reimbursement for genetic testing, variant interpretation, genomic sequencing, and direct-to-consumer testing.

Introduction to normal and abnormal prenatal growth and development of the major systems of the body from an embryological point of view. Intended for first-year genetic counseling students in preparation for clinical rotations.

Through directed readings, observing patient evaluations, role-playing, and conducting intake interviews, students are introduced to the process of diagnosis, management, and counseling for genetic disease. Psychosocial issues, interviewing techniques, pedigree construction, clinical photography, and various other skills are addressed.

Provides extensive supervised experience in history taking, interviewing, and psychosocial assessment in the clinical genetics setting. Students independently perform telephone, office, and home-visit intake interviews, participate in counseling, and present cases at patient management conferences.

Provides further supervised experience in genetic counseling, case management, clinic administration and organization, and the use of community resources. Emphasis is on sharpening counseling skills and on developing a professional identity and code of ethics.

Theoretical approaches, counseling models and methods, and bio-psychosocial assessment strategies are examined in the context of genetic counseling. Contract-setting, working alliance, the use of self and evaluation methods. Beginning counseling and peer supervision skills are practiced in class.

Lectures, guest speakers, and community visits acquaint genetic counselors with public and private health care and funding agencies, parent support and advocacy groups, and other resources to assist individuals and families confronted with genetic disorders, developmental disabilities, and birth defects.

Explores major social, legal, and ethical issues in genetic counseling including those arising in genetic screening, prenatal diagnosis, informed consent, privacy and confidentiality, rights of the disabled, new genetic and reproductive technologies, treatment, and access to services.

Builds upon the skills learned in previous courses emphasizing advanced counseling methods such as listening, empathy, and collaboration. The counselor's own self-awareness, ethical behaviors, and limits are explored. Individual, team, and group exercises are performed.

Hones and augments existing competencies in genetic counseling through ongoing clinical experiences. Develops skills using computers for genetics applications, provision of community and professional education, and clinic administration. Further experience in genetics laboratories or specialty clinics may be elected.

Under the supervision of one or more faculty members, the student designs and conducts a research project or completes a case report. A problem in the cytogenetics, biochemical, clinical, psychosocial, or behavioral areas of medical genetics may be investigated.