title: Clinician perspectives about molecular genetic testing for heritable conditions and development of a clinician-friendly laboratory report.
abstract: The use of molecular genetic tests for heritable conditions is expected to increase in medical settings, where genetic knowledge is often limited. As part of a project to improve the clarity of genetic test result reports to minimize misunderstandings that could compromise patient care, we sought input about format and content from practicing primary care clinicians. In facilitated workgroup discussions, clinicians from pediatric, obstetrics-gynecology, and family practice provided their perspectives about molecular genetic testing with a focus on the laboratory reporting of test results. Common principles for enhancing the readability and comprehension of test result reports were derived from these discussions. These principles address the presentation of patient- and test-specific information, the test result interpretation, and guidance for future steps. Model test result reports for DNA-based cystic fibrosis testing are presented that were developed based on workgroup discussions, previous studies, and professional guidelines. The format of these model test reports, which are applicable to a variety of molecular genetic tests, should be useful for communicating essential information from the laboratory to health care professionals.
authors.affiliation: Division of Laboratory Systems, NCPDCID, CCID, Centers for Disease Control and Prevention, 4770 Buford Hwy., MS-G23, Atlanta, GA 30333, USA. ilubin@cdc.gov
authors.forename: Ira M
authors.initials: IM
authors.lastname: Lubin
authors.forename: Margaret M
authors.initials: MM
authors.lastname: McGovern
authors.forename: Zoe
authors.initials: Z
authors.lastname: Gibson
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: Victoria M
authors.initials: VM
authors.lastname: Pratt
authors.forename: Jamila
authors.initials: J
authors.lastname: Rashid
authors.forename: Colleen
authors.initials: C
authors.lastname: Shaw
authors.forename: Lander
authors.initials: L
authors.lastname: Stoddard
authors.forename: Tracy L
authors.initials: TL
authors.lastname: Trotter
authors.forename: Marc S
authors.initials: MS
authors.lastname: Williams
authors.forename: Jean
authors.initials: J
authors.lastname: Amos Wilson
authors.forename: Kenneth
authors.initials: K
authors.lastname: Pass
mesh_terms: D019411:Clinical Laboratory Techniques / Q000592:standards*; D005820:Genetic Testing / Q000592:standards*; D006801:Humans; D008499:Medical Records / Q000592:standards*; D010819:Physician's Role