title: Ordering molecular genetic tests and reporting results: practices in laboratory and clinical settings.
abstract: Previous studies have suggested that patient care may be compromised as a consequence of poor communication between clinicians and laboratory professionals in cases in which molecular genetic test results are reported. To understand better the contributing factors to such compromised care, we investigated both pre- and postanalytical processes using cystic fibrosis mutation analysis as our model. We found that although the majority of test requisition forms requested patient/family information that was necessary for the proper interpretation of test results, in many cases, these data were not provided by the individuals filling out the forms. We found instances in which result reports for simulated diagnostic testing described individuals as carriers where only a single mutation was found with no comment pertaining to a diagnosis of cystic fibrosis. Similarly, reports based on simulated scenarios for carrier testing were problematic when no mutations were identified, and the patient's race/ethnicity and family history were not discussed in reference to residual risk of disease. Remarkably, a pilot survey of obstetrician-gynecologists revealed that office staff, including secretaries, often helped order genetic tests and reported test results to patients, raising questions about what efforts are undertaken to ensure personnel competency. These findings are reviewed in light of what efforts should be taken to improve the quality of test-ordering and result-reporting practices.
authors.affiliation: Centers for Disease Control and Prevention, 1600 Clifton Rd. NE, MS-G23, Atlanta, Georgia 30333, USA. ilubin@cdc.gov
authors.forename: Ira M
authors.initials: IM
authors.lastname: Lubin
authors.forename: Michele
authors.initials: M
authors.lastname: Caggana
authors.forename: Carolyn
authors.initials: C
authors.lastname: Constantin
authors.forename: Susan J
authors.initials: SJ
authors.lastname: Gross
authors.forename: Elaine
authors.initials: E
authors.lastname: Lyon
authors.forename: Roberta A
authors.initials: RA
authors.lastname: Pagon
authors.forename: Tracy L
authors.initials: TL
authors.lastname: Trotter
authors.forename: Jean Amos
authors.initials: JA
authors.lastname: Wilson
authors.forename: Margaret M
authors.initials: MM
authors.lastname: McGovern
mesh_terms: D002984:Clinical Laboratory Information Systems / Q000592:standards*; D019411:Clinical Laboratory Techniques / Q000592:standards*; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004252:DNA Mutational Analysis; D006580:Genetic Carrier Screening / Q000379:methods; D033142:Genetic Services; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D011785:Quality Assurance, Health Care / Q000592:standards*; D018570:Risk Assessment
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator