Advanced Human Genetics

This seminar in contemporary human genetics spans several levels of biological organization: the genetics of cells, individuals, families, and populations. Topics include: pedigree analysis; cytogenetics; molecular biology of DNA/RNA synthesis and expression; epigenetic regulation of genetic loci; mitochondrial inheritance; complications and exceptions in pedigree analysis; diagnostic techniques of molecular genetics; mutations and polymorphisms; linkage and gene discovery; multifactorial inheritance; risk estimation; Hardy-Weinberg equilibria; Bayesian calculations; population genetics; lod scores; malformation/deformation syndromes and sequences; and cancer genetics.

Advanced Human Genetics Special Topics Workshop

This practicum, a co-requisite of the Advanced Human Genetics seminar, is designed to provide students a series of workshops dealing with topics related to human genetics and genetic counseling. A more practical approach is emphasized here, applying knowledge acquired in “Advanced Human Genetics” as well as other courses. Some workshops will be facilitated by the “Advanced Human Genetics” instructor, while others will involve guest lecturers. Topics include cytogenetics, pedigree calculations, Bayesian analysis, molecular techniques, maternal serum screening, hemoglobinopathies, teratology, and cancer genetics.

Human Embryology

This course considers the normal development of the human embryo from the earliest stages to birth. A review of reproductive physiology is followed by a description of the earliest stages of embryonic differentiation and the development of individual organ systems. The course focuses on the stages, developmental mechanisms, and organ systems with greatest potential for improving our understanding of the pathophysiology of congenital abnormalities and malformation syndromes. The role and timing of teratogens, the intrauterine environment in abnormal development, and the contribution of genetic factors are all considered. Through detailed examination of several complex malformation syndromes, students gain insight into the consequences of disrupting the normal synergy between different organ systems during development.

Issues in Genetic Counseling

In various workshops over four semesters, students participate in weekly seminars designed to introduce and integrate scientific, psychosocial, and ethical issues in human genetics. Emphasis is placed on the development and evaluation of values, attitudes, and skills in professional helping and on the role of the genetic counselor as patient advocate. Crisis counseling skills are introduced through role-playing, audiotaped interviews, and the examination of case logbooks.

• Cross Cultural Counseling: These workshops offer programs on multiculturalism to help students develop an understanding of and sensitivity to cultural diversity.
• Disability Awareness/Sensitivity Training: These workshops focus on sensitivity training; the Americans with Disabilities Act; choice of language when assessing the needs of the physically, mentally, or emotionally challenged client; and other issues relating to disabilities or “abnormalities.”
• HIV/AIDS Workshop: This series of workshops introduces students to HIV counseling, discussion of human sexuality, and sexual orientation.
• Ethical Issues: This workshop series explores specific bioethical issues that pertain to the field of human genetics, such as patients’ rights, informed consent, confidentiality, predictive genetic testing, and duty to warn.

The Empathic Attitude

This course provides a theoretical and practical understanding of client-centered counseling. Students participate in tape-recorded interviews with role-playing subjects, which provide the basis for subsequent classroom discussion. Rogerian techniques are applied and integrated into clinical genetic counseling cases. Special emphasis is placed on understanding the emotional content of language in all phases of the genetic counseling process; eliciting a client’s psychological needs; and the choice of vocabulary in explaining complex genetic phenomena.

Issues in Public Health Genetics

This one-semester course consolidates several established workshops and short courses into a single class. The first module focuses on basic concepts in epidemiology as they apply to genetics, introducing an epidemiologic approach to genetic disease, testing, and counseling. Specifically, the course will provide students with key genetic and epidemiologic concepts, introduce the basic structure of study design, and provide opportunities to evaluate examples from the literature. Each three-hour session comprises a one-hour lecture introducing key concepts, a one-hour case study carried out in a small group format, and a one-hour journal club in the large group setting. Due to the increasing importance of clinical research and informatics in the genetics field, a second module explores research methodologies and SPSS. Students are introduced to the common research methods used in clinical genetic research and are instructed in recognizing the qualities of good research studies. They are further afforded an opportunity, through the use of the electronic classroom setting, to develop and analyze certain aspects of a database that they have created. The goal of this module is to help them become aware of research protocols as they apply to clinical genetics and to learn skills they might apply to their thesis project. A third module takes on the prickly ethical issues that are common in the genetics field. This module covers issues such as patient rights, informed consent, confidentiality, predictive testing, genetic discrimination, and the duty to warn. A fourth module provides students with additional experience in performing Bayesian calculations, in using statistical methods of risk assessment, and in practicing risk assessment through pedigree analysis and molecular testing.

Monday Afternoon Series

This four-semester seminar combines speakers, class discussions, and film to familiarize students with some of the rapidly changing topics in human genetics. Lectures cover state-of-the-art subjects that have not been fully covered elsewhere in the curriculum. Recent topics have included fetal neural tube surgery, genetic approaches to obesity, and the genetics of schizophrenia. Classical and contemporary films are interspersed into the series to stimulate discussion of familial relationships and conflicts; morbidity and chronic illness; death and dying; personal and familial crises; and birth defects. Discussion of the film and its relevance to genetic and psychosocial counseling follows each viewing. Lastly, discussions, debates, and panels are scheduled to stimulate discourse about other critical aspects of genetic counseling, including provision of health care, sensitization to minority issues and disability, and ethical dilemmas.

Reproductive Genetics

This course explores the discipline of reproductive genetics, which commences in the preconception period. It provides students a basic understanding of human reproduction and new reproductive technologies. Emphasis is placed on the practical application of this knowledge in prenatal genetic diagnosis, management, and therapy.

Human Physiology

The objective of the course is to provide students with an understanding of human physiology beginning with the cell and principles of cellular physiology, and continuing through most of the major organ systems. Focus on hereditary diseases and therapeutic approaches will be used to emphasize and teach physiological principles. Course topics will include: membrane transport and the physiological basis of cystic fibrosis; stem cell physiology and bone marrow transplantation; the etiology and physiology of diabetes; pathophysiology of the Multiple Endocrine Neoplasia syndromes; congenital heart malformations and pediatric cardiology; and physiology of the muscular dystrophies and skeletal dysplasias. The course will include student presentations on special topics of their choice in physiology, midterm, and final exams.

Biochemical Genetics

This course examines the chemistry and metabolism of proteins, carbohydrates, lipids, and nucleic acids. Biochemical abnormalities seen in certain genetic diseases are discussed and correlated with the disease phenotype. Emphasis is placed on DNA, RNA, and protein synthesis using selected genetic diseases as models. The risks, benefits, and limitations of state newborn screening programs and heterozygote carrier testing are detailed.

Introduction to Clinical Medicine

This course reviews the basic clinical skills required to facilitate the transition between basic medical sciences and the study of specific genetic disease entities. Emphasis will be on understanding the symptoms and physical signs needed to construct and decipher the medical history, physical examinations, written case summary, and oral presentation. Specific genetic counseling cases, as well as general principles, will be discussed in a workshop format.

Delivery of Genetic Services

This practicum, led by a genetic counselor, focuses on maximizing students’ clinical fieldwork and polishing one’s clinical skills. Topics include: coordinating a genetics clinic; protocols for patient care; history-taking skills; and educating the patient, both verbally and in writing. Special emphasis is placed on understanding the emotional content of language in all phases of the genetic counseling process, eliciting a client’s psychosocial needs, and the choice of vocabulary in explaining complex genetic phenomena.

Medical Genetics Seminar

This yearlong seminar is taught by 20 clinical and molecular geneticists drawn from medical schools in the greater New York area. Seminar topics include: cytogenetics; cytogenetic techniques; sex chromosome abnormalities and disorders of sex differentiation; autosomal and X-linked abnormalities; population genetics; genetically lethal conditions; biochemical genetics and inborn errors of metabolism; developmental genetics; environmental teratogens; neurogenetics; immunogenetics; genetic polymorphisms; multifactorial inheritance; infertility and assisted reproductive technologies; cancer genetics; genetics of craniosynostoses; advanced topics in linkage and lod scores; detection and counseling for detection of prenatal anomalies based on ultrasonography and fetal echocardiography; and genetic disorders of special organ systems. Molecular diagnosis of genetic diseases is emphasized. Genetic counselors supplement the genetics seminars with discussion of the psychosocial issues and counseling techniques for many of the topics. The course requires the writing of a Master’s Thesis.

Seminar in Genetic Counseling

This yearlong seminar involves an intensive study of the assessment and treatment of individuals and families with genetic problems. Through role-playing, videotape, and live supervision, students become familiar with the skills needed to communicate with patients of all backgrounds. They also learn to interpret specific genetic applications as outgrowths of personality traits and family structure. Students learn how to develop therapeutic interventions designed to enhance the effectiveness of communicating genetic information to at-risk patients, in part through detailed analysis of changes observed during counseling sessions.

Genetic Counseling Case Management Practicum

This second-year practicum trains graduate students in genetic counseling case management and psychosocial counseling. Behind two-way mirrors, students elicit the emotional and psychosocial needs of a client, couple, or family who seeks genetic counseling for any of a variety of hereditary disorders. The practicum provides students the chance to work with client(s) in an atmosphere where taking risks and trying different approaches is encouraged. Students further practice the choice of vocabulary to explain complex genetic phenomena to clients who may have no formal training in the sciences. In January of the second year, each student prepares an oral presentation on a randomly selected clinical genetic counseling case. The oral presentation is made before a panel of clinical geneticists, genetic counselors, and faculty of the Human Genetics program. During the presentation, the student is expected to detail the genetic, medical, and psychological issues surrounding the case, to describe in full her or his case management, and to elicit the psychosocial needs of the client(s). The objective of the exercise is to assess the student’s ability in case management and integration from initial referral to follow-up, including research, psychosocial assessment, counseling issues, and support services. It serves to identify the areas in which the student needs to focus during the last academic semester and clinical rotations.