RT Journal
A1 McGovern MM, Benach MO, Wallenstein S, Desnick RJ, Keenlyside R
T1 QUality assurance in molecular genetic testing laboratories
JF JAMA
JO JAMA
YR 1999
FD March 3
VO 281
IS 9
SP 835
OP 840
DO 10.1001/jama.281.9.835
UL http://dx.doi.org/10.1001/jama.281.9.835
AB Context 
                  Specific regulation of laboratories performing
molecular genetic tests may be needed to ensure standards and quality
assurance (QA) and safeguard patient rights to informed consent and
confidentiality. However, comprehensive analysis of current practices
of such laboratories, important for assessing the need for regulation
and its impact on access to testing, has not been conducted.Objective 
                  To collect and analyze data regarding availability of
clinical molecular genetic testing, including personnel standards and
laboratory practices.Design 
                  A mail survey in June 1997 of molecular genetic testing
laboratory directors and assignment of a QA score based on responses to
genetic testing process items.Setting 
                  Hospital-based, independent, and research-based molecular
genetic testing laboratories in the United States.Participants 
                  Directors of molecular genetic testing laboratories
(n=245; response rate, 74.9%).Main Outcome Measure 
                  Laboratory process QA score, using the
American College of Medical Genetics Laboratory Practice Committee
standards.Results 
                  The 245 responding laboratories reported
availability of testing for 94 disorders. Personnel qualifications
varied, although all directors had doctoral degrees. The mean QA score
was 90% (range, 44%-100%) with 36 laboratories (15%) scoring lower
than 70%. Higher scores were associated with test menu size of more
than 4 tests (P=.01), performance of more than
30 analyses annually (P=.01), director having
a PhD vs MD degree (P=.002), director board
certification (P=.03), independent (P
<.001) and hospital (P=.01) laboratories vs
research laboratory, participation in proficiency testing
(P<.001), and Clinical Laboratory Improvement Amendment
certification (P=.006). Seventy percent of
laboratories provided access to genetic counseling, 69% had a
confidentiality policy, and 45% required informed consent prior to
testing.Conclusion 
                  The finding that a number of laboratories had QA scores
that may reflect suboptimal laboratory practices suggests that both
personnel qualification and laboratory practice standards are most in
need of improvement to ensure quality in clinical molecular genetic
testing laboratories.