The Smilow Cancer Genetics & Prevention Program is a team of specialists, including physicians, geneticists, genetic counselors, genetics clinical coordinators, and advanced practice providers, who work together to provide cancer genetics education and coordination of genetic testing to inform cancer risk assessment, precision treatment for patients with cancer, and surgical management decisions. Patients seen in the Smilow Cancer Genetics & Prevention Program will typically first meet with a genetic counselor, a genetics clinical coordinator, or have a combined visit with one of our specialty providers and a genetic counselor. Genetic counselors are licensed medical professionals with advanced training in genetics who help patients understand and adapt to the medical, psychological, and familial implications of genetic contributions to diseases such as cancer. Genetics clinical coordinators are key team members who enable expedited evaluation and genetic testing for patients who meet the criteria for genetic testing as part of our novel Fast-Track Program. An initial pre-test visit in the program typically includes the following: Detailed review of a patient’s medical history and their family history of cancer Risk assessment of the chance that the cancer(s) in the family are hereditary Discussion of the risks, benefits, and limitations of genetic testing Coordination of genetic testing and detailed discussion of genetic test results Discussion of appropriate medical management recommendations, implications for family members, and support resources Coordination of cascade testing, which is genetic testing of blood relatives of individuals with genetic pathogenic variants identified Our specific goals include the following: Clinical: Provide patient-centered care and foster collaboration among health care providers Research: Advance the field of cancer genetics, risk prediction and prevention, and related treatment options Education: Provide clinical/didactic experiences for genetic counseling students, medical students, residents, fellows, and other providers Community Outreach: Promote awareness of hereditary cancer risk and provide broad-based education about cancer prevention options Who may benefit from a hereditary cancer genetics evaluation and testing? Someone with: A personal or family history of early-onset cancer (age 50 years or younger) Several family members on the same side of the family with cancer A personal or family history of breast cancer and Jewish ancestry A personal or family history of ovarian, pancreatic, triple-negative breast cancer, or metastatic prostate cancer at any age A personal or family history of multiple colon polyps A personal or family history of multiple cancer diagnoses within the same individual A personal or family history of a rare type of cancer/tumor (breast cancer in a male, medullary thyroid cancer, sebaceous carcinoma, or adenoma) A family history of a known gene pathogenic v

Clinical Genetics at Yale School of Medicine has a long and distinguished history of advancing the understanding of inherited disorders and providing outstanding care to patients and families with a genetic disorder or suspected of having such a disorder. Informed by transformative basic and translational research, highly trained Yale genetics physicians and support staff provide comprehensive diagnostic evaluations, genetic counseling, and care for children and adults affected by a wide variety of rare and complex inherited and congenital conditions. The full spectrum of state-of-the-art genetics laboratory services, including molecular and cytogenetic diagnostic laboratories, are housed within the Department. Comprehensive and compassionate clinical care of the highest quality is provided by a team of highly experienced physicians who specialize in medical genetics, genetic counselors, nurse practitioners, nutritionists, and laboratory geneticists who value collaboration and respect for individuals and families. Recognizing its stature in the field, the Department has been designated a Center of Excellence for rare diseases by the National Organization of Rare Disorders. It is committed to improving access to and care for patients with rare disorders. Appointments for a genetic evaluation can be scheduled by calling (203) 785-2660 . Your health care provider must make a referral for genetics evaluation via the EPIC electronic medical record, and our schedulers will contact you to schedule an appointment. The mission of Clinical Genetics is: To provide outstanding and compassionate clinical care to patients by applying the most recent diagnostic and therapeutic advances based on cutting-edge basic and translational genetic/genomic research To provide outstanding training for clinical and laboratory geneticists, empowering them to become leaders in the seamless integration of genetics and genomics across the entire field of medicine. To advance the field of genetics and genomics medicine through the innovative research programs housed in our department and university. Patient care General Genetics Clinic for Children and Adults. We provide comprehensive diagnostic evaluations, follow-up, and management for children and adults with a large variety of medical problems, including: Birth defects Chromosomal abnormalities Abnormal results of newborn screening Inborn errors of metabolism Intellectual disability Autistic spectrum disorder Developmental delay Neurocutaneous disorders Childhood and adult genetic syndromes Hereditary cancer syndromes (link to cancer counseling ) Individuals suspected to have a genetic disorder Note: We care for patients and families with many other genetic disorders. Please contact us at (203) 785-2660 if you have questions about whether a patient should be referred for genetic consultation. Specialty clinics Down Syndrome Program Craniofacial Program Neurofibromatosis Program We provide dia

Our program cares for patients and families with suspected inherited cardiovascular disease. We actively treat and research a variety of conditions, from inherited heart rhythm disorders to congenital heart disease in adults. Our program is multidisciplinary in nature, working with general and interventional cardiologists, genetic counselors, nurses, primary care physicians, and research scientists to provide patients with the best care possible. We were the first clinical center to use whole exome sequencing, which analyzes the protein-coding genes, to identify known and novel disease genes. Our genetic counselor works alongside our cardiologists to evaluate family history, establish the clinical diagnosis, offer genetic testing, provide risk assessment, and consider treatment options for conditions that include: Inherited cardiomyopathies Inherited heart rhythm disorders, including Long QT syndrome, Brugada, Catecholaminergic polymorphic ventricular tachycardia (CPVT), Arrhythmogenic Right Ventricular Dysplasia (ARVD) and sudden cardiac death Inherited vascular conditions such as early onset familial forms of coronary artery disease, inherited disease of the aorta such as Marfan syndrome, and other connective tissue diseases Inherited lipid disorders Inherited vascular disease Congenital heart disease in adults