Personnel standards and quality assurance practices of biochemical genetic testing laboratories in the United States.
BACKGROUND
It has been suggested that specific regulation of laboratories performing genetic testing may be needed to ensure standards and quality assurance, and to safeguard the rights of patients with regard to confidentiality and providing informed consent. Previously, a comprehensive analysis of current practices of molecular genetic testing laboratories was conducted, the results of which have assisted in the assessment of the need for regulation and its impact on access to testing. However, a study designed to determine clinical laboratory practices with regard to biochemical genetic testing has not been carried out.


OBJECTIVE
To collect and analyze data regarding availability of clinical biochemical genetic testing, personnel standards, and laboratory quality assurance practices.


METHODS
A mail survey of biochemical genetic testing laboratory directors and assignment of a quality assurance score based on responses to genetic testing process items.


METHODS
Hospital-based, independent, and research-based biochemical genetic testing laboratories in the United States.


METHODS
Directors of biochemical genetic testing laboratories (n = 133; response rate 68.5%).


METHODS
Laboratory process quality assurance score based on the standards defined by the American College of Medical Genetics Laboratory Practice Committee.


RESULTS
Personnel qualifications varied, although all directors had doctoral degrees. The mean quality assurance score was 77% (range 28%-100%). Higher scores were associated with the following variables: test director having an MD degree versus PhD degree (P = .002), director board certification in biochemical genetics (P = .002), research and hospital laboratory versus independent laboratory setting (P < .001), and participation in a proficiency testing program (P = .03). Twelve percent of participants had a confidentiality policy, and 19% required informed consent before testing.


CONCLUSIONS
The finding that a number of laboratories had quality assurance scores that may reflect suboptimal laboratory practices, particularly with regard to reporting practices, suggests that personnel qualification and laboratory practice standards may be in need of improvement to ensure quality in clinical biochemical genetic testing laboratories, as well as the appropriate clinical use of the test results.
McGovern
Margaret M
MM
Benach
Marta
M
Wallenstein
Sylvan
S
Boone
Joe
J
Lubin
Ira M
IM
D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D030661:Genetic Privacy; D005820:Genetic Testing / Q000592:standards*; D006801:Humans; D007258:Informed Consent; D008004:Licensure; D017056:Medical Laboratory Personnel / Q000592:standards*; D013677:Medical Laboratory Science / Q000592:standards*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis; D011785:Quality Assurance, Health Care; D012016:Reference Values; D015203:Reproducibility of Results; D014481:United States