Genetic & Hereditary Screening Form

The Genetic and Hereditary Screening Form is a specialized template for documenting a patient's genetic risk profile and hereditary disease screening history. It captures a structured three-generation family pedigree including parents, siblings, children, grandparents, aunts, and uncles with specific attention to conditions with known hereditary patterns: BRCA1/BRCA2-associated cancers, Lynch syndrome, familial hypercholesterolemia, hereditary hemochromatosis, sickle cell disease, cystic fibrosis, Huntington disease, Marfan syndrome, and hereditary cardiomyopathies. For each affected relative, the form records the specific condition, age of diagnosis, genetic testing results if known, and vital status.

Prior genetic testing is documented comprehensively, including the type of test performed (single gene, multi-gene panel, whole exome sequencing, whole genome sequencing, chromosomal microarray), the laboratory that performed the testing, date of results, variants identified (pathogenic, likely pathogenic, variants of uncertain significance), and clinical interpretation. Pharmacogenomic testing results are captured separately, documenting CYP450 enzyme metabolizer status and other drug-gene interactions that impact prescribing decisions for medications such as codeine, clopidogrel, warfarin, and fluoropyrimidines.

The template includes a hereditary cancer risk assessment section aligned with NCCN guidelines, documenting criteria for enhanced screening protocols (e.g., breast MRI, colonoscopy at age 25) and referral triggers for genetic counseling. Carrier screening results for autosomal recessive conditions are recorded for reproductive planning purposes. Consent for genetic testing, understanding of results, and psychosocial impact assessment are also captured. This form is used by genetic counseling services, hereditary cancer clinics, maternal-fetal medicine practices, cardiology genetics programs, and precision medicine initiatives.