Colleen Shaw

Clinician perspectives about molecular genetic testing for heritable conditions and development of a clinician-friendly laboratory report

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.

Laboratory Medicine Best Practices: Systematic Evidence Review and Evaluation Methods for Quality Improvement

OBJECTIVE To develop methods for systematically reviewing evidence for identifying effective laboratory medicine (LM) practices associated with improved healthcare quality outcomes. RELEVANCE Although many evidence-evaluation systems have been developed, none are designed to include and rate healthcare quality improvement studies to identify evidence-based practices that improve patient safety and LM quality. METHODS Validated evidence-based medicine methods established by governmental agencies, the Guide to Community Preventive Services, and others were adapted for the LM field. Key methods modifications included (a) inclusion of quality improvement study designs; (b) mechanisms for inclusion of unpublished evidence, (c) combining of individual ratings of study quality, effect size, and relevance of outcome measures to evaluate consistency of practice evidence; and (d) deriving an overall strength rating to support evidence-based best practice recommendations. The methods follow the process steps of: ask; acquire; appraise; analyze; apply; and assess. Expert panels used the systematic evidence review results on practice effectiveness for improving healthcare quality outcomes consistent with the Institute of Medicines healthcare quality aims (safe, timely, effective, equitable, efficient, and patient-centered). CONCLUSIONS Adapting and developing methods from validated systems and applying them to systematically review and evaluate practices in LM by using published and unpublished studies is feasible. With these methods, evidence from quality improvement studies can be systematically synthesized and summarized to identify effective LM practices. Practical and scientifically validated demonstration of a positive impact on outcomes ensures that practitioners, policy makers, and decision makers at all levels have the evidence needed for improving healthcare quality and public health.