Genetic counseling for patients with positive genomic screening results: Considerations for when the genetic test comes first
M. Schwartz, Adam H. Buchanan, Miranda L. G. Hallquist, Christopher M. Haggerty, Amy C. Sturm
Abstract
Emerging genetic testing delivery models have enabled individuals to receive testing without a medical indication. This article will highlight key considerations for patient care in the setting of adult patients with positive results for monogenic disease identified through genomic screening. Suggestions for how to adapt genetic counseling to a genomic screening population will encompass topics such as phenotyping, risk assessments, and the use of existing guidelines and resources. Case examples will demonstrate principles of genotype-first patient care.
Topics & Concepts
Genetic counselingGenetic testingMedicinePublic healthDiseaseTest (biology)Human geneticsGenomic medicineMedical geneticsPopulationDiagnostic testFamily medicineGeneticsPediatricsNursingBiologyComputational biologyPathologyInternal medicinePaleontologyEnvironmental healthGeneGenomics and Rare DiseasesBRCA gene mutations in cancerHealth Systems, Economic Evaluations, Quality of Life