NIH tiene planes de crear un registro público que contenga información sobre pruebas genéticas disponibles, sus bases científicas, y potenciales usos. Por medio de la solicitación incluida en el siguiente enlace, NIH busca opiniones de investigadores y el público sobre que temas e información debería abarcar este portal informativo. ENLACE: http://grants.nih.gov/grants/guide/notice-files/NOT-OD-10-101.html MODO DE RESPUESTA: GTR@od.nih.gov PREGUNTAS: The NIH is seeking input and advice on the following items: 1. Are there any types of genetic tests that should not be included in the GTR? 2. What are the potential uses of the GTR for (1) researchers, (2) patients/consumers, (3) health care providers, (4) clinical laboratory professionals, (5) payers, (6) genetic testing entities/data submitters, (7) policy makers, and (8) electronic health records? 3. What data elements are critical to include for use by (1) researchers, (2) patients/consumers, (3) health care providers, (4) clinical laboratory professionals, (5) payers, (6) genetic testing entities/data submitters, (7) policy makers, and (8) electronic health records? 4. What are the potential benefits and risks associated with facilitating public access to information about the: a. Availability and accessibility of genetic tests? b. Scientific basis and validity of genetic tests? c. Utility of genetic tests? 5. What is the best way to distinguish between data fields left blank because of an absence of data/evidence and those left blank for other reasons? How important is this distinction for enhancing transparency, including for the purpose of identifying research opportunities? 6. To adequately and accurately describe a genetic test, which of the following data elements should be included in the GTR? Are there other data elements that should be added? What information is necessary to represent adequately each data element? a. Contact information (e.g., location, name of the laboratory director, and contact information for the laboratory performing the test) b. Laboratory certifications (e.g., Federal or State certification of the laboratory that performs the test) c. Name of the test (e.g., common test name, commercial name, marketing materials about the test and/or genetic testing entity, standard identifier (e.g. CPT codes, LOINCii)) d. Regulatory clearances (e.g., for tests reviewed by the Food and Drug Administration, the 510(k) or premarket approval (PMA) number) e. Intended use of the test (e.g., diagnosis, screening, drug response) f. Recommended patient population g. Limitations of the test (e.g., is the test validated only for certain subpopulations or limited to particular uses such as screening but not diagnostic testing?) h. Test methodology i. Analyte(s)—What is being measured in the test (e.g., genetic sequence) j. Specimen requirements (e.g., blood, saliva, tissue samples, amniotic fluid) k. Availability (e.g., is the submitter the sole provider of the test or are there multiple providers?) l. Accessibility (e.g., accessible through a health provider, public health mandate, and/or direct-to-consumer) m. Performance characteristicsi 1. Analytical sensitivity 2. Analytical specificity 3. Accuracy 4. Precision 5. Reportable range of test results 6. Reference range 7. Method used for proficiency testing (e.g., formal PT program, alternative assessment) and score n. Clinical validity 1. Clinical sensitivity 2. Clinical specificity 3. Positive and negative predictive value 4. Prevalence 5. Penetrance 6. Modifiers o. Utility (e.g., clinical and/or personal utility) or outcomes 1. Benefits 2. Harms 3. Added value, compared with current management without genetic testing p. Cost (e.g., price of the test, health insurance coverage) 7. What types of information might be difficult for test providers to submit and why? 8. What are the advantages and disadvantages of collecting and providing information on the molecular basis of genetic tests, such as detailed information about what the test detects and the specific methods employed? 9. In addition to the data elements, would it be helpful to reference other resources, and if so, which ones (e.g., published studies, recommendations from expert panels such as the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children, U.S. Preventive Services Task Force, or Evaluation of Genomic Applications in Practice and Prevention Working Group)? 10. As the GTR is being designed, what are the important processes to consider to make the submission of data as easy as possible for the data provider (e.g., the capability of linking to information that has been submitted to other agencies, such as the Food and Drug Administration and the Centers for Medicare and Medicaid Services, or a master file of data common to particular tests)? 11. Which potential benefits and risks would be most likely to affect the decisions of researchers, test developers, and manufacturers on whether to submit data to the GTR, and what factors will best encourage submission of complete and accurate data? 12. What are the most effective methods to ensure continued stakeholder input into the maintenance of the GTR? 13. For what purpose(s) would you use the Registry to support your professional efforts? 14. Are there any other issues that NIH should consider in the development of the GTR?