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Catalog
PPM - General Genetics Patient- 2021 Version
Description and References
Description and References
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Pdf Summary
This document provides a summary of the evaluation process for patients in the field of Medical Genetics. It highlights key elements such as diagnosis, management, and genetic counseling. Important steps in the evaluation include a thorough review of the patient's medical history, documentation of imaging studies and laboratory evaluations, and constructing a three-generation pedigree. Physical examinations should include measurements of height, weight, and head circumference, as well as attention to any physical findings or dysmorphic features.<br /><br />Diagnosis may require ordering appropriate laboratory tests and/or imaging studies. Once the diagnosis is established, the document emphasizes the importance of addressing the frequency of surveillance using published guidelines and providing the patient and/or family with appropriate references and support group information. Genetic counseling should also be provided to the patient and/or family members, either by the clinical geneticist or through referral to a genetic counselor.<br /><br />The document concludes by recommending the documentation of a follow-up plan, if indicated. The learning objectives of this module include ensuring documentation that reflects the reason for the genetics referral, history, physical examination, laboratory evaluation, genetic counseling, and follow-up practices.<br /><br />The document also provides a list of resources for further reading, including clinical guidelines, online databases for genetic information, and medical literature sources.<br /><br />In summary, this document outlines the necessary steps and considerations in evaluating patients in the field of Medical Genetics, including diagnosis, management, and genetic counseling, along with recommendations for documentation and follow-up.
Keywords
evaluation process
Medical Genetics
diagnosis
genetic counseling
physical examinations
laboratory evaluations
follow-up plan
genetics referral
documentation
clinical guidelines
© 2025 American College of Medical Genetics and Genomics. All rights reserved.
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