General Genetics
Version: November 2021
Description:
The evaluation of Medical Genetics patients 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 three-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 unique and recognizable (aka dysmorphic) features, if indicated.
Diagnosis may require ordering appropriate laboratory tests and/or imaging studies.
Once the diagnosis is established, frequency of surveillance should be addressed, using published guidelines whenever possible, and the patient/family should be provided with appropriate references and support group information if applicable.
Also, once the diagnosis is established, genetic counseling should be provided to the patient and/or the appropriate family members either by the clinical geneticist directly or through referral to a genetic counselor.
Finally, a plan for follow-up, if indicated, should be documented.
Scroll to the bottom of this page for a Preview of the Checklist.
Practice Performance Modules (CCP Part IV)
(Continuing Certification Program was formerly the Maintenance of Certification Program (MOC)
Practice performance modules are derived from accepted practice guidelines related to genetics patient care. Modules are available for pediatric genetics, adult genetics and prenatal/obstetric genetic care providers.
Process:
- Educational Content – Review module, literature, and practice checklist
- Charting – Each module requires the learner to review up to 5 patient charts and documenting certain findings according to the module questions.
- Assessment and Self-reflection Questions (N/A responses are not acceptable and credits will be revoked)
- Evaluation
Completion of these modules should be based on actual patient care as documented in your patient chart. The process is not meant to be punitive but designed to help assess practice and facilitate practice improvement. The modules should be completed honestly based on documentation in the chart. An audit process may be implemented by ACMG to document compliance. Learners should keep track of the specific charts used to complete the practice module so that these charts could be reproduced in the setting of an audit.
Self-reflections should be meaningful and provide evidence that the diplomate has considered the practice guidelines contained in the exercise in the context of their own clinical practice. Answers to reflection questions should be 2-3 full sentences long and have thoughtful content. Answers to reflection questions will be anonymized and reviewed for content by the MOC committee. Reflections that do not meet these guidelines will be returned to the diplomate for revision. Revisions that do not meet guidelines may result in forfeiture of MOC credit for a given module and a request to repeat the module.
- Do you think this module reflects best practice? Please elaborate whether you agree or disagree and state why.
- Did you identify any gaps in your practice? If so, please elaborate.
- If you identified gaps in your practice, what changes do you plan make to your practice based on this module?
- What if any barriers do you foresee for implementing change if you identified gaps in your practice? For example, short staffing, time factors etc.
