Interaction of genetic counselors with molecular genetic testing laboratories: Implications for non‐geneticist health care providers

Abstract

The availability of molecular genetic tests for the identification of mutant gene carriers, and for assessing individual genetic response to pharmacologic agents, infectious agents, and other environmental exposures, is expected to result in the increased use of the molecular genetic testing laboratory by primary care physicians. However, a number of concerns have been raised about such testing including the need for safeguards to protect patient privacy, and if the interface between genetic testing laboratories and the ordering physician facilitates the appropriate clinical use of the test result. In this study, genetic counselors were surveyed to determine their practices with regard to the clinical issues of informed consent and confidentiality in the context of genetic testing, and to assess their level of satisfaction with the reporting practices of molecular genetic testing laboratories. The results of this survey revealed that there is variability in the practices of genetic counselors with regard to obtaining informed consent, and that there are areas for improvement with regard to molecular genetic test reports, particularly in terms of interpretation of results.

Clinician Perspectives about Molecular Genetic Testing for Heritable Conditions and Development of a Clinician-Friendly Laboratory Report

“…8 These findings, consistent with other published observations, suggested that in many cases test result reports are neither standardized nor contain complete interpretations. 1,[3][4][5]7 Our findings and those reported in the literature raise concerns that benefits from genetic tests may be compromised, in some instances, as a consequence of improper test ordering, variations in the reporting of results, and the capacity of clinicians and their staff to effectively use the information contained within test result reports.…”

Molecular testing: improving patient care through partnering with laboratory genetic counselors

“…In one publication, clinical GCs said that they had contacted a member of the molecular laboratory staff in advance of sending a sample 58% of the time. 4 When contacting the laboratory, over 94% of the time the clinician asked for information regarding cost, TAT, and specimen requirements. 4 Although these are important things to know when ordering DNA testing, the purpose of this article is to describe a number of other ways that the laboratory staff can be helpful to health care professionals who wish to order a genetic test.…”

“…4 When contacting the laboratory, over 94% of the time the clinician asked for information regarding cost, TAT, and specimen requirements. 4 Although these are important things to know when ordering DNA testing, the purpose of this article is to describe a number of other ways that the laboratory staff can be helpful to health care professionals who wish to order a genetic test. We feel strongly that the job description of the laboratory GC includes not only serving as a resource to the referring clinician, but also advocating for them and their patients within the lab.…”

Genetics and genetic counseling: Practices and opinions of primary care physicians in Turkey

“…Practicing physicians do not think they have enough information about genetic diseases or genetic counseling and recognize their need for more education. McGovern et al 22 found that 79% of genetic counselors participated in the general education of physicians about genetic testing. The need for this education and its benefits in primary care have been defined by Kolb et al 23 and Kirk.…”