PPM - Carrier Screening (2024)-Checklist

Checklist

Pdf Summary

The document provides a checklist for healthcare professionals to follow during patient visits involving carrier screening. The checklist is designed to ensure comprehensive evaluation and documentation of the patient's personal and family medical history, particularly in relation to genetic conditions and consanguinity. Key points include:<br /><br />1. Review of the patient's personal medical history and inquiry about any previous genetic screening or testing.<br />2. Evaluation of family history to examine ancestry and any known genetic conditions.<br />3. Discussion and documentation of screening options, including no screening, ethnic-based screening, and pan-ethnic screening.<br />4. Consideration of expanded carrier screening, which covers a broader number of conditions and genetic variants. This includes discussing the potential for increased frequencies of positive results, variants of uncertain significance (VUS), adult-onset conditions, and presymptomatic conditions like Fragile X syndrome.<br />5. Decision-making on whether to test the patient alone or both partners simultaneously.<br />6. Tailoring testing options based on the patient's personal, family history, and ancestral background to ensure appropriateness.<br />7. Offering partner carrier screening if the patient is found to be a carrier of a disorder and previous testing has not been done. Specific enzyme analysis like Hex A is recommended if applicable.<br />8. Reviewing the implications of a positive test result and discussing the residual risk even if the test is negative.<br />9. Documenting counseling about reproductive options and risks if both partners are carriers of the same genetic condition.<br />10. Offering diagnostic testing for familial pathogenic variants if deemed more appropriate based on personal or family history. <br /><br />This checklist serves as a guide to provide thorough genetic counseling and testing options to patients, ensuring all relevant factors are considered and appropriately addressed.

Keywords

carrier screening

genetic counseling

family medical history

genetic conditions

expanded carrier screening

partner testing

reproductive risks

diagnostic testing

ancestry evaluation

Hex A enzyme analysis