The ability to establish a genetic diagnosis provides valuable prognostic information which may be used to guide both preventive and therapeutic interventions for patients and their family members. Our Genetics consultation service offers a personalized approach to the diagnosis and management of hereditary adrenal diseases by incorporating state of the art DNA, protein and biochemical analysis into patient care. While we have broad expertise in genetic disorders, we are particularly interested in disorders of the adrenal gland. Our clinical and research expertise in the area of endocrine genetics provide the most advanced diagnostics and treatments available.
A typical patient encounter with our service includes a complete medical and family history and physical examination. We ask that patients provide records of any prior genetic testing that has been performed as well as past medical records. After a comprehensive evaluation, we have a thorough discussion of the different hereditary conditions that might be considered. Together with the patient, we develop a diagnostic and/or treatment plan which may include genetic testing.
Patients that elect to undergo genetic testing are asked to return for a follow-up visit to review test results and establish a treatment plan. We review all molecular test results in person to ensure that individuals and their families understand their results and appropriate follow-up plans are made. Once a genetic diagnosis is confirmed, patients often undergo screening tests to prevent disease complications. We provide patient-focused care with an emphasis on disease education and counseling.
Establishing a genetic diagnosis is important to the individual patient as well as the family as a whole. We offer evaluation and counseling for all at-risk family members to identify those family members who need additional medical surveillance.
We see established patients on an annual basis, or sooner if needed. Follow up visits provide an opportunity to review screening results and to discuss any advances made in the pertinent disease area.
Our mission is to provide extraordinary patient care and to advance the diagnosis and treatment of hereditary disorders which too often go unrecognized. To achieve this goal our staff is engaged in many aspects of patient advocacy including patient care, physician and genetic counselor education, patient support groups and clinical and basic science research. As part of our clinical evaluation, we perform clinical genetic testing for a variety of disorders (see below examples).
Dr. Annes trained at Brigham and Women’s Hospital in Internal Medicine and Medical Genetics. His clinical and research interests are in the area of endocrine genetics. In particular, Dr. Annes studies the hereditary basis for Paragangliomas and Pheochromocytomas. As part of this work, he has established an approach for comprehensive genetic testing for these disorders through the Laboratory of Molecular Medicine (see below). In addition, Dr. Annes’ laboratory has developed a laboratory-based disease model of the Hereditary Paraganglioma Syndrome. This experimental model is being used to discover new medicines that might be used to preventative these tumors from forming and to treat them once they have formed.
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