The Medical Genetics and Genomics Residency in the Division of Genetics & Metabolism benefits from all the component programs, expert faculty and staff, as well as integration of these well-established services to provide excellent care for individuals with rare disease. Access to numerous patients requiring genetic services through the Waisman Center Medical Genetics clinic, AFCH Deming Way Genetics Clinics, the Biochemical Genetics Clinic, and multiple multidisciplinary clinics, including the Neurocutaneous Disorders, Neuromuscular Disease, Craniofacial, Birth marks and Vascular Anomalies, UW Retinal Disorders, Bone Metabolic, Bone Dysplasias, Down syndrome, Neuromotor, Cancer and Prenatal Genetics clinic, and an active inpatient consultation service all housed at UW is one of the major strengths of the program.
The Division consists of a team of 15 faculty including (including seven MDs with clinical activity), eleven genetic counselors, four nurse practitioners, one registered nurse, and four metabolic dieticians. Members of the division direct accredited training programs in genetic counselling, medical genetics, biochemical genetics, clinical cytogenetics, and molecular genetics. We collaborate and work closely with the UW Director of Genetic Counseling, UW Medical Director of Genetic Counseling Services, and multiple genetic counselors affiliated with adult and pediatrics specialty care clinics (including Oncology, Cardiology, Craniofacial/Surgery, Nephrology, Neurology, and Dermatology, among others). Our multidisciplinary teams provide excellent clinical care for patients and their families with rare diseases, as well as extensive teaching opportunities, and mentorship for research and scholarly activity for multiple learners preparing to care for those individuals. The faculty are also involved in multiple collaborative clinical research studies and clinical trials to better understand mechanisms of rare disease, their management and potential treatment(s).
The Division of Medical Genetics faculty and staff are affiliated with the Wisconsin State Laboratory of Hygiene, which is responsible for the laboratory component of the newborn screening and provides genetic testing including cytogenetics and molecular genetics. The Division is also part of the University of Wisconsin School of Medicine and Public Health, the American Family Children’s Hospital, the University of Wisconsin Hospital and Clinics, and the Waisman Center, where patients and families receive medical genetics care both within medical genetics or multi-disciplinary clinics. Most of the medical genetics clinics are held within the Waisman Center, a University Center for Excellence in Developmental Disabilities (UCEDD). Faculty, staff, fellows, and residents collaborate with the UCEDD.
The Division is also committed to the training and education of future students and medical professionals in the field of rare disease as evidenced by our three ACMGE accredited fellowships in Medical Genetics (clinical), Laboratory Genetics and Genomics, and Biochemical Genetics, as well as a well-established Masters in Genetic Counseling program.
In addition, faculty, fellows and residents participate in the Department of Health Services (OHS), State of Wisconsin, and Newborn Screening Program (NBS), which includes contract/grants with the University for funding mechanisms in clinical areas. Faculty participate in Amish outreach with grant opportunities available for next generation sequencing with the UW laboratory programs (including laboratory fellowship) under the Collaborative Genomic Core (CGC) program, which in turn provides collective clinical laboratory resources across campus and their partners. The CGC, which interacts with the Division of Genetics, is involved in the development and validation of novel genomic technologies into the clinical services and research programs across the UW, supporting clinical trials and translational research efforts.
The Division of Genetics & Metabolism also has close collaboration with the Center of Human Genomics and Precision Medicine, directed by Dr. Meyn, who is also a co-lead with Dr. Keppler-Noreuil on this UW Center for Rare Disease application to NORD. The Center provides cutting edge genomic and personalized medicine, as well as serving as a conduit to basic science and translational research. The Undiagnosed Diseases Program developed by the Center of Human Genomics and Precision Medicine is supported by faculty and investigators in the Division of Genetics & Metabolism.
The Department of Pediatrics is a vibrant academic department comprised of over 200 faculty in seventeen subspecialty divisions, and it offers a full range of pediatric inpatient and outpatient care at the state-of-the-art American Family Children’s Hospital, community hospitals, and outreach clinics statewide.
The Medical Genetics Residency Program at the University of Wisconsin Hospitals and Clinics will train clinical medical geneticists to provide comprehensive diagnostic, management, and genetic counseling services for patients and families with genetic disorders and birth defects. During the course of the Medical Genetics residency training program, each trainee must acquire an understanding of basic genetic principles and familiarity with all of the major subdisciplines of the field. This will include (1) detailed knowledge regarding the basic science of genetics in general and human genetics in particular, (2) knowledge of genetic diseases in humans as well as related diseases which might be genetic or have a genetic component, (3) familiarity with the tests used in evaluation of genetic disorders, and (4) the ability to apply these to the evaluation of patients suspected to have a genetic disease. In addition, trainees should be able to obtain relevant family and medical histories, perform a physical examination, develop a differential diagnosis, select and interpret appropriate laboratory tests, discuss the prognosis of most common genetic disorders, provide clinical management of these disorders, interact with other health-care professionals in the provision of services for patients with genetically influenced disorders and provide accurate medical and genetic counseling to patients and families.
Duration and Structure of the Overall Program
This 2-year Medical Genetics Residency program will be comprised of 18 months of broad-based general clinical genetics training and 6 months of clinical or laboratory-based research activity, as mandated by the Residency Review Committee for Medical Genetics (RRC). The residents will also attend a continuity genetics clinic once per week during the 6 months of research.
Prior to appointment in the program, residents must have successfully completed at least 12 months of direct patient care experience in a residency program that must include responsibility, under proper supervision and commensurate with their ability, for decision-making and for direct patient care in all settings. These responsibilities should include taking a complete history, performing a complete physical examination, ordering and interpreting appropriate diagnostic testing, the planning of care, and the writing of orders, progress notes and relevant records, subject to review and approval by senior residents and attending physicians.