Course : MOC Part IV: General Genetics Patient

The approach to the evaluation of the patient in the Medical Genetics clinic includes the key elements of diagnosis, management and genetic counseling.

As with all patients, a thorough review of the medical history including birth history, developmental history and review of systems is essential. Obtaining documentation of pertinent imaging studies and laboratory evaluations is also key. Constructing a 3 generation pedigree documenting individuals with the same or similar findings is of the upmost importance as is documentation of other findings such as cognitive impairment, birth defects, known genetic disorder and cancer.

Physical exam should include documentation of height, weight and head circumference and these measurements should be plotted on the appropriate growth chart(s). A careful exam should be performed with special attention to the presence or absence of pertinent physical findings including dysmorphic features, if indicated.

Diagnosis may require ordering appropriate laboratory tests and/or imaging studies.

Once the diagnosis is established, surveillance should be addressed, using published guidelines whenever possible, and the patient/family should be provided with appropriate references.

Also, once the diagnosis is established, genetic counseling should be provided to the patient and/or the appropriate family members.

Finally a plan for follow-up, if indicated, should be documented.

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