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Genetic counseling for patients with positive genomic screening results: Considerations for when the genetic test comes first
Author(s) -
Schwartz Marci L. B.,
Buchanan Adam H.,
Hallquist Miranda L. G.,
Haggerty Christopher M.,
Sturm Amy C.
Publication year - 2021
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1002/jgc4.1386
Subject(s) - genetic counseling , genetic testing , genomic medicine , public health , medicine , disease , test (biology) , medical genetics , human genetics , population , family medicine , genetics , nursing , biology , computational biology , pathology , environmental health , paleontology , gene
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.