PPM - General Genetics Patient Repeat- 2021 Version-Description and References

Description and References

Pdf Summary

This document provides a general overview of the evaluation and management of patients in the field of Medical Genetics. It emphasizes the importance of a comprehensive medical history review, including birth history and developmental history, as well as documentation of imaging studies and laboratory evaluations. Constructing a three-generation pedigree and documenting other findings such as cognitive impairment, birth defects, genetic disorders, and cancer is crucial.<br /><br />The physical examination should include measurements of height, weight, and head circumference, plotted on appropriate growth charts. Special attention should be given to the presence or absence of specific physical findings or dysmorphic features if indicated.<br /><br />Diagnosis may require ordering laboratory tests and/or imaging studies. Once the diagnosis is established, the frequency of surveillance should be addressed using published guidelines, and patients should be provided with appropriate references and support group information.<br /><br />Genetic counseling should be provided to patients and/or their family members, either directly by a clinical geneticist or through referral to a genetic counselor. Finally, a follow-up plan should be documented if necessary.<br /><br />The learning objectives of the 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 and references related to genetics, including clinical guidance documents, specialty practice guidelines, and databases such as OMIM and GeneReviews.<br /><br />Overall, this document serves as a guide for practitioners who evaluate patients in the field of Medical Genetics, helping them ensure comprehensive and effective management of their patients.

Keywords

evaluation

management

patients

Medical Genetics

comprehensive medical history

imaging studies

laboratory evaluations

genetic disorders

physical examination

genetic counseling