PPM - Carrier Screening-Checklist

Checklist

Pdf Summary

The document provides a checklist for healthcare professionals to ensure that proper carrier screening is conducted during patient visits. The checklist includes the following points:<br /><br />1. History: The patient's personal medical history is reviewed, and any prior genetic screening/testing is asked about. Additionally, the family history is reviewed, including ethnicity, genetic conditions, and consanguinity.<br /><br />2. Examination: Options for carrier screening are discussed and documented, including no screening, ala carte screening, ethnic-based screening, and pan-ethnic screening. Expanded carrier screening is also discussed, which includes a larger number of conditions and variants, increased frequency of positive results, variants of uncertain significance (VUS), and conditions with adult onset or presymptomatic manifestations. The choice between sequential and simultaneous screening is also discussed. The patient's personal, family history, and ethnic background are considered to ensure appropriate testing is offered.<br /><br />3. Laboratory testing: If the patient is found to be a carrier of a disorder, partner carrier screening is offered if not previously done. Enzyme analysis is offered if the patient is Hex A positive. The implications of a positive test result are discussed, as well as the residual risk if the result is negative.<br /><br />4. Counseling: If both members of a couple are carriers, counseling is documented regarding reproductive options and risks. If diagnostic testing for familial mutations is more appropriate based on personal or family history, it is offered.<br /><br />The checklist is provided to ensure that all necessary steps are taken to conduct thorough carrier screening and provide appropriate counseling based on the results.

Keywords

carrier screening

healthcare professionals

medical history

genetic conditions

family history

ethnicity

expanded carrier screening

laboratory testing

counseling

reproductive options