Genetic counseling for patients with positive genomic screening results: Considerations for when the genetic test comes first | Zendy

Schwartz Marci L. B. | Zendy; Buchanan Adam H. | Zendy; Hallquist Miranda L. G. | Zendy; Haggerty Christopher M. | Zendy; Sturm Amy C. | Zendy

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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 , medicine , public health , disease , test (biology) , human genetics , genomic medicine , medical genetics , population , diagnostic test , family medicine , genetics , pediatrics , nursing , biology , computational biology , pathology , paleontology , environmental health , 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.

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