PUBLIC HEALTH APPLICATIONS OF GENETIC RESEARCH IN HEART, LUNG, BLOOD, AND SLEEP DISORDERS Release Date: July 12, 2002 NOTICE: NOT-HL-02-015 National Heart, Lung, and Blood Institute (NHLBI) (http://www.nhlbi.nih.gov/) Response Due Date: August 26, 2002 BACKGROUND NHLBI is soliciting input on approaches to applying results of genetic research in heart, lung, blood, and sleep disorders to improving human health and preventing disease. Considerable progress has been made in understanding the structure and function of the human genome as related to heart, lung, blood, and sleep disorders, and further advances are expected from NHLBI's substantial investment in this area. The more difficult task of utilizing this information to improve the public's health will require identifying feasible public health goals of genetic research and determining approaches for reaching them. While few genetic results are currently ready for direct public health application in these conditions, several areas hold promise for detection, treatment, and prevention, but concerted effort may be needed to stimulate the steps from gene identification to public health implementation. Accordingly, the NHLBI is soliciting input from the scientific communities it serves to guide in developing these efforts. PURPOSE This request for information seeks advice on approaches to applying results of genetic research in heart, lung, blood, and sleep disorders to improving human health and preventing disease, including identification of: 1) specific short- and long-term public health goals of genetic research and approaches for reaching them; 2) specific public-health related applications of results currently available or likely to be ready in the next 5-10 years, steps necessary to make them ready, and approaches for applying them; and 3) necessary infrastructure (expertise, equipment, resources, centers) and common approaches that might be utilized for developing these public health applications. Advice could include recommendations for analysis of existing data, additional research in existing or new clinical or population-based studies, gatherings of expert panels, direct public or medical professional education activities, or suggestions in any other areas. Given the focus on public health applications of genetic research in heart, lung, blood, and sleep disorders, recommendations regarding new gene discovery, gene therapy, evaluation of individual patients or rare disease groups, or evaluation of health problems of low prevalence or public health impact will receive less emphasis in developing this strategy. Respondents are asked to comment on one or more of the issues listed below (using the link to the online form at the end of this document if possible), but should not feel compelled to address all 9 issues. INFORMATION REQUESTED 1. Please comment on the optimal balance between a public health approach (population-based or population subgroups) vs. a clinical (patient-based) approach to applying genetic research to improve health and prevent disease. Comments on the appropriate timing and coordination of patient-oriented and population-oriented efforts are also sought. 2. Please suggest additional infrastructure, statistical methods, technologies, consent procedures, population resources, data sharing policies, etc. for enhancing public health applicability of NHLBI-supported genetic research. 3. Consider and recommend approaches to applying genetic findings from rare monogenic forms of heart, lung, blood, and sleep disorders, such as long-QT syndrome or alpha-1-antitrypsin deficiency, to more common conditions such as arrhythmic death in coronary disease or chronic obstructive pulmonary disease. 4. Please suggest approaches for using genetic information to enhance the effectiveness of preventive and therapeutic interventions by tailoring them to patients or population subgroups. Similarly, consider approaches for using genetic information to reduce the frequency of adverse drug reactions and suggest strategies for implementing these approaches. 5. The possibility that an individual's knowledge of their own high-risk genotype could improve their adherence to interventions is intriguing, but has yet to be investigated. Please consider the potential importance of this area and suggest approaches to determining the impact of genotypic information on adherence to interventions by an individual or their family members. 6. Please recommend strategies for using genetic information to identify patient or population subgroups at high risk of heart, lung, blood, and sleep disorders, including criteria that might be used to determine which genetic variants to screen for, and in which subgroups. Please suggest how additional information needed to determine such criteria could be obtained. Suggestions are also needed on which screening approaches to use and when (such as population-wide vs. targeted or high-risk groups), and what information to provide after screening. 7. Please suggest approaches for utilizing NHLBI's large body of population-based observational studies and clinical trials to enhance public health applications of genetic information, including barriers encountered or anticipated and approaches for dealing with them. Brief descriptions of these studies are available at http://apps.nhlbi.nih.gov/popstudies/. 8. Please recommend priorities and approaches for whether and how NHLBI might improve the understanding and utilization of genetic information by the general public (including specific population sub-groups as necessary) and by practicing clinicians. 9. Other information not specifically addressed by the comments above, but considered important and relevant to the use of genetic information in heart, lung, blood, and sleep public health efforts, would also be of considerable interest and value. Responses in any of the 9 areas are welcome; respondents should not feel compelled to address all 9 issues. Responses will be compiled and shared with our advisory committees. We look forward to your input and hope you will share this document with your colleagues. Thank you very much for your help. To respond, please link to the online form in the What's New section on the NHLBI Home Page (http://www.nhlbi.nih.gov/funding/inits/geneform.htm), or send a letter, fax or email to the following address: Dr. Teri Manolio Two Rockledge Centre 6701 Rockledge Drive Room 8160, MSC 7934 Bethesda, Maryland 20892-7934 Telephone: (301) 435-0708 FAX: (301) 480-1667 E-mail: NHLBIPublgen@nhlbi.nih.gov
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