Collaborative Counseling Considerations for Pharmacogenomic Tests.

Increased use of pharmacogenomic (PGx) testing in the clinical setting has revealed a number of challenges to providing this service. PGx is an important component of precision medicine that brings together the fields of genetics and clinical pharmacology. A model that incorporates a multidisciplinary approach to implementation and information delivery may be the most beneficial to patients and providers. In this review, translational considerations in the provision of PGx testing and counseling services are described. Specifically, we report on the selection of PGx tests, the provision of patient education and counseling, and examples of PGx service delivery models that incorporate counseling by pharmacists and genetic counselors. Examples of ancillary risks associated with PGx testing, testing of children, and familial implications of testing are reviewed. Through multispecialty partnerships, including genetic counselors and pharmacists, implementation obstacles to PGx testing can be overcome to provide quality precision medicine to patients.

Genetic testing in ectodermal dysplasia: availability, clinical utility, and the nuts and bolts of ordering a genetic test.

"Ectodermal Dysplasia syndromes" comprise a diverse group of heritable conditions characterized by congenital anomalies of one or more ectodermal structures and their appendages: hair, teeth, nails, and sweat glands. Genetic testing is available for many types of ectodermal dysplasia (ED) through clinical and/or research laboratories. We address the distinctions between genetic testing as performed on a clinical versus research basis, and summarize the clinical aspects, testing methodology, and sensitivity for those ED syndromes for which testing is available in a clinical laboratory. Lastly, we leave the laboratory for the clinical setting to discuss the utility of genetic testing for patients and their families, and summarize the practical issues involved in ordering a genetic test.