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: [email protected]

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