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Technical Briefs |
1
Department of Pathology, University of Pittsburgh, Pittsburgh, PA 15213, and
2
Departments of Laboratory Medicine, Pathology, and Medicine (Medical Genetics), University of Washington, Seattle, WA 98195;
a address correspondence to this author at: University of Pittsburgh, Department of Pathology, Molecular Diagnostics, Scaife Hall, Room S-728 3550 Terrace St., Pittsburgh, PA 15213-2500: fax 412-383-9594, e-mail wthof{at}aol.com
Molecular-genetic tests have recently become a regular part of clinical practice. They are performed by a heterogeneous group of institutions, including academic centers, nonprofit organizations, and commercial laboratories. Concerns have been raised about the proliferation of commercial clinical genetics laboratories and their impact on academic-based genetic laboratory services (1)(2)(3)(4). Regulatory agencies and peer groups have questioned the adequacy of training of laboratory directors and have recommended minimum guidelines for the delivery of clinical genetics services (5)(6). Accreditation bodies such as the College of American Pathologists (CAP) and the New York State Department of Health (NYDOH) have recently developed specific standards for laboratories providing genetic testing to help ensure its quality. In the near future, further changes in the regulatory landscape for genetic testing are anticipated (7).
Despite these concerns, few quantitative data are available about the institutional, demographic, and economic characteristics of clinical genetic testing laboratories and their acceptance of proposed quality standards (7)(8)(9)(10)(11)(12). Such data are needed to assess the quality of testing, strategies for regulatory oversight, and availability of case material for research and training programs. To evaluate the current laboratory environment for genetic testing, we sought to determine key features of clinical molecular-genetic laboratories and their directors in the US.
Data were obtained via an anonymous mail survey of laboratory directors. The methods used for the survey were described previously (8). In brief, all genetic testing laboratories in the US that in January 1998 offered clinical genetic testing for one or more of six common genetic diseases were identified from the Helix directory (http://healthlinks.washington.edu/helix/). Care was taken to include most of the highest-volume genetic tests performed in the US. An anonymous questionnaire and subsequent reminder letter were mailed to 101 identified laboratories. Of the 101 mailed questionnaires, 10 were returned because of unknown recipient or mail delivery problems. Forty-four questionnaires were returned fully or partially completed. The response rate of the survey, therefore, was 48.4%.
The Association of Molecular Pathology (AMP) 1998 Test Directory is a listing of laboratories performing molecular testing in the fields of genetics, infectious diseases, and oncology (13). The information contained in the AMP Test Directory was used as a second, independent data source for comparison with data obtained in the mail survey. Of the 101 laboratories listed in the AMP Test Directory, 66 performed molecular-genetic testing. The listing of American Board of Medical Genetics (ABMG) diplomates (http://www.faseb.org/genetics/abmg.html) was used to determine whether the laboratory directors listed in the AMP Test Directory possessed subspecialty credentials in genetics.
The institution types of the recipients of the questionnaire, the
responding genetic testing laboratories, and the molecular-genetic
testing laboratories listed in the AMP Test Directory are
shown in Table 1
(13). The distribution of institution types is
almost identical in these three groups of laboratories. The majority of
molecular-genetic laboratories (61%) are located at academic
institutions, ~11% are part of commercial entities, and 21% are
located in private nonprofit institutions. The cumulative number of
genetic tests performed by all the respondents together (n = 44)
since the individual laboratories were founded was in excess of
293 527 tests. Of these tests, 63.9% were performed at academic
institutions, 4.6% were performed at private for-profit institutions,
8.2% were performed at private nonprofit institutions, and 23.3% were
performed at other institution types. The median number of genetic
tests performed annually by responding laboratories (n = 44) was
525, the 25th percentile was 210 tests per year, and the 75th
percentile was 935 tests per year (range, 36 to 11 000). The majority
of laboratories (68%) performed between 101 and 1000 tests per year,
9% of laboratories performed <100, and 9% performed >5000 tests on
average per year (Fig. 1
). The median number of different genetic assays offered by
responding laboratories (n = 42) in the mail survey was 10, the
25th percentile was 5.5 assays offered, and the 75th percentile was
14.8 assays offered (range, 2–30). The AMP Test Directory
data were comparable but showed an even higher percentage of
laboratories performing only a very limited number of different genetic
assays. The median age or experience of the participating laboratories
(n = 44) was 6.5 years, the 25th percentile was 3.2 years, and the
75th percentile was 9.3 years (range, 1–12).
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All surveyed laboratories were federally licensed under CLIA '88, and 88.6% of the surveyed laboratories and 87.9% of laboratories listed in the AMP Test Directory were accredited by CAP and/or NYDOH. Almost one-half (49%) of directors in the surveyed laboratories had a PhD as their highest academic degree, 27% had a MD degree, and 24% a combination of MD and PhD degrees. The last category included laboratories with two or more directors, one with a MD degree, and another with a PhD degree. AMP Test Directory data were again comparable (33% PhD, 20% MD), but the MD-PhD combination category was somewhat more frequent (47%). For the surveyed laboratories, 74% of directors indicated one or more subspecialty credentials from the ABMG. Only 39% of directors listed in the AMP Test Directory, which is more heavily weighted toward pathologists, had ABMG subspecialty credentials.
We have examined a broad sample of clinical laboratories in the US. By
choosing high-volume clinical genetic tests for the survey, including
cystic fibrosis and fragile X syndrome, we were able to avoid limiting
our data to low-volume esoteric disease entities or pure research
settings (7). The institutions responding to the survey are
likely to be representative because the distribution of institution
types was almost identical in the 91 laboratories that received the
survey, the 44 respondents, and the laboratories listed in the
AMP Test Directory (Table 1
). We therefore believe that the
survey data are reliable and representative indicators of the
characteristics of clinical molecular-genetic testing laboratories in
the US.
Accreditation bodies such as CAP and NYDOH have recently added special accreditation requirements for molecular pathology and genetics to help ensure the quality of testing in these areas. The vast majority of molecular-genetics laboratories (89%) in our study were accredited by one or both of these bodies. This supports the view that most laboratories are already subject to rigorous quality standards set by external agencies to improve the quality of genetic testing. Similarly, some groups have recommended that directors of molecular-genetic laboratories should be certified by the ABMG (5)(6). It seems this has largely occurred in practice: among the surveyed laboratories, ABMG provided the most common type of specialty certification (74%). In addition, results from a recently published study also demonstrate the excellent quality achieved in actual clinical practice in molecular-genetic laboratories throughout the US (8).
A primary purpose of performing clinical tests for most academic molecular-genetic laboratories is to provide case material for teaching and research. Presently, very few academic molecular-genetic laboratories are self-supporting on the basis of clinical revenue. The number of molecular-genetic tests performed in the US for many genetic diseases is also probably rather low when compared with the number of molecular tests performed in some other areas of clinical medicine, e.g., infectious diseases. In addition, testing is usually labor-intensive, and the availability of commercial testing kits or systems is very limited. These facts may help to explain why molecular-genetic testing as a whole is still primarily performed in academic centers.
The results of our survey are generally consistent with another recent study (11) regarding institution types performing testing, accreditation status, ABMG specialty certification, and highest academic degree of laboratory directors. However, our study focused on clinical molecular-genetic laboratories providing testing for common genetic diseases, whereas McGovern et al. (11) examined a very heterogeneous group of laboratories that also included laboratories performing molecular oncology or fluorescence in-situ hybridization assays and many unlicensed research facilities offering testing for 94 often esoteric disorders. The laboratories surveyed by McGovern et al. on average performed even fewer genetic tests per year and had smaller assay menus than the laboratories in our study.
In conclusion, our study demonstrates that genetic testing facilities in the US are still a heterogeneous group. The field as a whole seems to be far from dominated by any of the involved players. According to our data, academic laboratories were the most common institution type and performed the largest share (64%) of molecular-genetic tests. These results also show that molecular-genetic testing is still largely a cottage industry in the US, with test volumes that are minuscule compared with most other parts of the clinical laboratory.
Acknowledgments
We thank the Department of Medicine at Providence St. Vincent Hospital, Portland, Oregon, for the technical support provided. This work was made possible in part by a grant from the Nohlgren/Menne Research and Education Fund at Providence St. Vincent Hospital, Portland, Oregon.
References
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