Commercialization of clinical genetic laboratory services: in whose best interest?

Major technological advances in human genetics have rapidly reached clinical practice. Presymptomatic, predictive, prenatal, and carrier detection tests are now commonplace for an increasing number of monogenic and other disorders. Sophisticated laboratory studies with complex results require knowledge of clinical genetics for correct interpretation. There is a clear imperative to have clinical genetics specialist physicians involved with communications, interpretations, and consultations about these laboratory reports. Notwithstanding such appropriate requirements, commercial laboratories now deliver complex genetic laboratory reports directly to physicians unprepared for necessary interpretations. Guidance from commercial operations is frequently provided by non-physicians by telephone. Moreover, such facilities market their own unproven, non-peer-reviewed diagnostic tests, false claims included, directly to physicians. Beguiled by the speed with which results are obtained, harried obstetricians not skilled in critical technical analysis of such new tests have quickly fallen prey to sales pitches. The best and most comprehensive genetic care is usually available from an academic-based laboratory within a teaching medical center. Obstetricians have an added liability burden if they are not allied with a genetics center upon whom they can call for reliable results and appropriate guidance.