Full Text PA-96-042
 
ETHICAL, LEGAL, AND SOCIAL IMPLICATIONS OF HUMAN GENETICS RESEARCH
 
NIH GUIDE, Volume 25, Number 13, April 26, 1996
 
PA NUMBER:  PA-96-042
 
P.T. 34

Keywords: 
  Genetics 
  Human Genome 
  Ethics/Values in Science & Technol 

 
National Center for Human Genome Research
National Institute of Mental Health
National Institute of Nursing Research
 
PURPOSE
 
This program announcement is designed to solicit projects to support
research and education activities that focus on anticipating,
analyzing, and addressing the ethical, legal, and social issues that
arise from the use of the knowledge and technologies resulting from
human genetics research.
 
This program announcement supersedes the one which appeared in the
NIH Guide for Grants and Contracts, Vol. 19, No. 4, January 26, 1990.
It restates the interest of the National Center for Human Genome
Research (NCHGR) and encompasses the interests of the National
Institute of Mental Health (NIMH) and the National Institute of
Nursing Research (NINR).  All three NIH components are interested in
receiving applications for research grants; NCHGR and NIMH are also
interested in receiving applications for education grants and
conference grants.
 
This program announcement complements other programs in the
sponsoring components:  NCHGR's Ethical, Legal, and Social
Implications (ELSI) Program, which also supports cross-disciplinary,
post-doctoral training through the Individual National Research
Service Award (NRSA) Program (PA-92-21), education projects related
to these areas through the Small Business Innovation Research (SBIR)
Program (See Omnibus Solicitation of the Public Health Service for
SBIR Grant and Cooperative Agreement Applications), and courses to
enhance the skills of individuals interested in pursuing laboratory
or scholarly research relevant to the Human Genome Project (PA-91-88)
and NINR's cross-disciplinary post-doctoral training program,
Training and Development: Nursing and Biology Interface (PA-92-035).
 
For more information about the activities of the sponsoring NIH
components, visit the following home pages:  NCHGR's Ethical, Legal,
and Social Implications Program: http://www.nchgr.nih.gov; NIMH's
genetics research program on mental disorders:
http://www.nimh.nih.gov; and NINR's research activities in the area
of genetics: http://www.ninr.nih.gov.
 
HEALTHY PEOPLE 2000
 
The Public Health Service (PHS) is committed to achieving the health
promotion and disease prevention objectives of Healthy People 2000, a
PHS-led national activity for setting priority areas.  This Program
Announcement, Ethical, Legal, and Social Implications of Human
Genetics Research, is related to the priority areas of health
promotion and preventive services.  Potential applicants may obtain a
copy of Healthy People 2000" (Full Report:  Stock No. 017-001-00474-0
or Summary Report:  Stock No. 017-001-00473-1) through the
Superintendent of Documents, Government Printing Office, Washington,
DC 20402-9325 (telephone 202-512-1800).
 
ELIGIBILITY REQUIREMENTS
 
Applications may be submitted by domestic and foreign for-profit and
non-profit organizations, public and private, such as universities,
colleges, hospitals, laboratories, units of state or local
governments, and eligible agencies of the federal government.  Only
domestic organizations and institutions are eligible to receive FIRST
(R29) awards.  Racial/ethnic minority individuals, women, and persons
with disabilities are encouraged to apply as Principal Investigators.
Investigators from foreign organizations should be aware that, in the
area of ethical, legal and social issues, the standard NIH criteria
for funding foreign applications are applied very strictly (see Award
Criteria below).  Such investigators are strongly encouraged to
contact program staff before preparing an application.
 
MECHANISM OF SUPPORT
 
Support for this program will be through several mechanisms, regular
research grants (R01), FIRST awards (R29), conference grants (R13)
and education grants (R25).  NINR, however, will only accept
applications for the R01 and R29 mechanisms.  Individuals applying
for a FIRST award must comply with the 1994 NIH Guidelines for FIRST
awards.  Single copies of the R29 guidelines are available from the
program person listed under INQUIRIES.  Information can also be
requested electronically; the e-mail address is:
[email protected].  Program staff may also provide relevant
information about these guidelines.  Support for conferences will be
limited to those that are highly focused and produce a specific
product, such as policy recommendations or options related to the
Human Genome Project (HGP) or the ethical, legal and social issues
related to genetics research, including genetic research on mental
disorders.
 
In general, projects will be funded for three years or fewer, before
requiring a competitive renewal. FIRST award applicants must request
five years of support.  Applicants are encouraged to discuss their
ideas with program staff prior to submission of applications.
Prospective applicants should contact program staff regarding dollar
limitations associated with each program mechanism.  Because of the
limited funds available to support these types of studies,
applications for projects in which the budget requested will be
greater than $250,000 direct cost per year must be discussed with
Program Staff prior to submission. The reason for such discussions is
to facilitate program management of a limited budget.
 
RESEARCH OBJECTIVES
 
Summary
 
The NIH, along with several other federal and private, national and
international organizations, is currently engaged in a research
effort known as the Human Genome Project. This project is designed to
characterize the human genome and the genomes of selected model
organisms.  The HGP has several interrelated goals:  the construction
of high resolution genetic linkage maps and the development of
physical maps of the human genome and the genomes of selected model
organisms; the determination of the complete nucleotide sequence of
human DNA and the DNA of several model organisms; the development of
the capability for collecting, storing, analyzing, and distributing
the information and technologies that result; the development of new
technologies necessary to achieve these goals; research training; and
the identification and analysis of related ethical, legal, and social
issues.  The knowledge and technologies that will become available as
a result of the HGP will serve as a resource for studies of gene
structure and function and will promote research into the genetic
aspects of human growth, development, variability and genetic
contributions to mental disorders and other human diseases.
 
This work will lead to unprecedented insights into the many ways that
cell function and dysfunction occur.  In turn, new ways of dealing
with health and disease will be elucidated, including new gene-based
diagnostic, treatment and prevention options.  Thus, the information
and technology gained as a result of the HGP are also expected to
have a profound impact on individuals and society.  Knowing the
entire sequence of the human genome will, accordingly, raise
questions about how this information will be used and interpreted by
individuals, families, and society.  For example, specific questions
that will be raised are those which concern the application of
genetic information and technology to the vulnerable population of
individuals with mental disorders and their families.  In
anticipation of the full impact of the HGP, high priority is being
given to studies that examine and attempt to address ethical, legal,
and social implications of genetics research.  Investigators are
encouraged to propose research or education projects to gather
information, analyze underlying assumptions, and develop
recommendations and options for policies, programs or education that
optimize the potential benefits of increased knowledge about human
genetics and individual health risk factors, while minimizing the
potential for adverse impact.  Investigators are also encouraged to
propose specific research projects to address the ethical, legal and
social issues that will arise as information and technologies
regarding the genetic basis of mental disorders become available.
 
Research Scope
 
This program announcement emphasizes the ongoing commitment of the
NIH to support research activities that focus on anticipating,
analyzing, and addressing the ethical, legal, and social issues that
may arise from human genetics research.  The NCHGR is interested in
supporting as research models, projects that examine such issues as
they relate to genetics research, genetic testing and counseling,
gene-based diagnosis and therapy, and other activities related to
human genetics; encourage the responsible integration of new genetic
technologies into clinical practice; promote genetic privacy and fair
use of genetic information; and improve public and professional
understanding about genetics, genome technology and related ethical,
legal and social issues.  The NIMH is interested in supporting these
issues as they relate specifically to mental disorders.  The NINR is
interested in ethical issues surrounding decisions that patients
and/or their family members may need to make regarding genetic
testing and/or diagnosis of a disease or a disorder.  NINR is also
interested in clinical research where the purpose is to assist
patients and their families in developing healthy lifestyle choices
after being diagnosed with a genetic predisposition to a
disease/disorder.
 
Areas of interest include, but are not limited to, the following
topics:
 
1.  Issues related to genetics research and other genome-related
research activities:
 
o  the elements of informed consent for individuals participating in
genetics research;
 
o  the role of institutional review boards (IRBs) in dealing with
genetics research;
 
o  issues related to the involvement of individuals and their
families in genetics research;
 
o  policies related to effectively maintaining privacy and
confidentiality of genetic information about individuals and families
participating in genetics research;
 
o  questions raised by the commercialization of the products from
human genetics research (e.g. ownership of tissue and tissue derived
products, patents, copyrights, and accessibility of data and
material); and
 
o  issues surrounding the development and use of experimental
gene-based diagnostic tools and therapies.
 
2.  Clinical integration of new genetic technologies:
 
o  issues in the delivery of individual and family genetic counseling
and testing and population-based genetic screening, including:
 
o  the elements of informed consent for individuals considering
genetic testing;
 
o  policies related to effectively maintaining privacy and
confidentiality of genetic information in individuals and families
who have undergone genetic testing;
 
o  issues raised by the increased availability of genetic tests for
reproductive risk assessment, prenatal testing, pre-symptomatic
testing, predisposition testing, testing for disorders for which no
therapeutic intervention is available, and testing for mental
disorders and other multifactorial disorders;
 
o  the effect of prenatal genetic information on parents, other
family members, and others involved in making reproductive decisions;
 
o  studies of cultural differences and similarities in the use or
non-use of genetic testing and counseling services;
 
o  issues raised by the introduction of an increased amount of
genetic information into mainstream health care practice; and
 
o  issues specifically raised in the delivery of psychiatric genetic
counseling services.
 
3.  The use and interpretation of genetic information:
 
o  the privacy and confidentiality of genetic information, including
questions of ownership and control of genetic information, and
consent to disclosure and use of genetic information;
 
o  questions of the fair use of genetic information (e.g., insurance,
employment, the criminal justice system, the educational system,
adoption, and the military);
 
o  conceptual and philosophical implications raised by genetics
research, such as its implications for such concepts as personal
identity and responsibility, genetic determinism and reductionism,
and health and disease;
 
 o  the uses and misuses of genetic information in the past and the
relevance of the historical experience to current practices and
policies;
 
o  the impact of genetic information, including genetic information
about mental disorders, on the individual and on social groups,
including questions of individual and group psychological responses,
family relationships, stigmatization, and labeling;
 
o  studies on cultural differences in the uses of genetic
information; and
 
o  the effect of genetic information on the concept of disability.
 
4.  Professional and public education about genetics and genome
technology, and related ethical, legal and social issues:
 
o  education of health professionals about genetics, genetic testing
and counseling, and genetic disorders that cause both physical and
mental disabilities and other health problems; education abut related
ethical, legal and social implications of new genetic technologies
(e.g. model programs that increase health professionals' knowledge
and abilities to give their patients accurate, timely, and
appropriate information about these issues);
 
o  education of the public including public educators about genetics,
genetic testing and counseling, and genetic disorders that cause both
physical and mental disabilities and other health problems; education
about related ethical, legal, and social implications of new genetic
technologies (e.g., model programs for teacher education; model
programs for K-12);
 
o  education of policy makers about genetics, genetic disorders,
genetic technologies and ethical, legal and social implications,
including possible misinterpretations or misuses of genetic
information;
 
o  education of health professionals on the skills specific to
psychiatric genetic counseling; and
 
o  studies of advantages and disadvantages of various educational
approaches and settings for the public, patients, and health
professionals.
 
The research design should be appropriate to the nature of the
project(s) proposed and the discipline(s) involved.  Projects that
use the interpretive methods traditional to humanities, law, and the
social sciences are encouraged.  It is essential that applicants
address the full range of views on each issue they select to
investigate in a responsible, scholarly, and balanced manner, with
the goal of advancing scholarship, achieving better understanding,
and/or developing useful recommendations.  Interdisciplinary,
collaborative projects between genome scientists, mental health
researchers, nurse researchers, genetics specialists, social
scientists, legal scholars, educators, and/or ethicists are
particularly encouraged.
 
Education projects are encouraged to integrate a strong scientific
foundation with consideration of relevant ethical, legal and social
issues.  Interdisciplinary teams to develop education projects are
encouraged.  Of particular interest are projects that explore new,
innovative approaches to education.  Projects should involve the
target audience in planning, have an effective evaluation component,
and propose a model that is transferable and transportable.  Because
of the urgent need at present, health professional education is
regarded as having a high program priority.  In general, applications
to support media documentaries will not be accepted, except in
special cases in which there is unusually compelling evidence that
the proposed program will have sound educational value for a broad
segment of the population, and that it will include both timely,
accurate, and important information about human genetics,
technologies arising as a result of the Human Genome Project, and the
ethical, legal, and social implications issues related to these
developing genetic technologies.
 
INCLUSION OF WOMEN AND MINORITIES IN RESEARCH INVOLVING HUMAN
SUBJECTS
 
It is the policy of the NIH that women and members of minority groups
and their subpopulations must be included in all NIH-supported
biomedical and behavioral research projects involving human subjects,
unless a clear and compelling rationale and justification is provided
that inclusion is inappropriate with respect to the health of the
subjects or the purpose of the research.  This new policy results
from the NIH Revitalization Act of 1993 (Section 492B of Public Law
103-43) and supersedes and strengthens the previous policies
(Concerning the Inclusion of Minorities in Study Populations), which
have been in effect since 1990.  The new policy contains some
provisions that are substantially different from the 1990 policies.
 
All investigators proposing research involving human subjects should
read the "NIH Guidelines for Inclusion of Women and Minorities as
Subjects in Clinical Research," which have been published in the
Federal Register of March 28, 1994 (FR 59 14508-14513) and reprinted
in the NIH Guide for Grants and Contracts, Volume 23, Number 11,
March 18, 1994.  Investigators may also obtain copies of the policy
from the program staff listed under INQUIRIES.  Program staff may
also provide additional relevant information concerning the policy.
 
STUDY POPULATIONS
 
All applications involving human subjects should describe, in detail,
plans for the protection of the rights and interests of any
individual and/or family involved in any clinical testing protocol.
Specific plans for recruitment of subjects should be clearly
summarized.  Any plans for sharing of data and storage of DNA samples
for other purposes must be outlined.  While it is foreseeable that
there may be some research situations in which it would be
appropriate to involve minors as subjects, studies proposing to
perform gene-based risk assessments involving minors have the
potential to result in a "greater than minimal risk," and thus
applicants need to explicitly address any potential benefits and
risks to minor subjects, in whom such testing would be carried out.
Applicants proposing to carry out clinical protocols should review
the Protecting Human Research Subjects:  Institutional Review Board
Guidebook, Chapter 5, Section H, Human Genetic Research [1993, Office
of Protection from Research Risks (OPRR), NIH].  If funded,
applicants may wish to consider applying for a Certificate of
Confidentiality from the Department of Health and Human Services in
order to attempt to provide further protection for research subjects.
 
 
APPLICATION PROCEDURES
 
Applications are to be submitted on the grant application form PHS
398 (rev. 5/95) and will be accepted at the standard application
deadlines as indicated in the application kit with the exception of
education grants (R25).  NCHGR and NIMH have only one receipt date
per year for unsolicited education grant (R25) applications.  For
applications assigned to NCHGR, that date is February 1.  For
applications assigned to NIMH, that date is October 1.  Applications
for the FIRST Award (R29) must include at least three sealed letters
of reference attached to the face page of the original application.
FIRST Award (R29) applications submitted without the required number
of reference letters will be considered incomplete and will be
returned without review.  Applications kits are available at most
institutional offices of sponsored research and may be obtained from
the Grants Information Office, Office of Extramural Outreach and
Information Resources, National Institutes of Health, 6701 Rockledge
Drive, MSC 7910, Bethesda, MD 20892-7910, telephone 301/710-0267,
email: [email protected].  The title and number of the
program announcement must be typed in Section 2 on the face page of
the application.
 
The completed original application and five legible copies must be
sent or delivered to:
 
DIVISION OF RESEARCH GRANTS
NATIONAL INSTITUTES OF HEALTH
6701 ROCKLEDGE DRIVE, SUITE 1040 - MSC 7710
BETHESDA, MD  20892-7710*
BETHESDA, MD  20817 (for express/courier service)
 
REVIEW CONSIDERATIONS
 
Applications will be assigned on the basis of established Public
Health Service referral guidelines.  Applications will be reviewed
for scientific and technical merit in accordance with the standard
NIH peer review procedures.  Following scientific-technical review,
the applications will receive a second-level review by the
appropriate national advisory council.
 
Review Criteria
 
R01 and R29 applications will be reviewed by the Division of Research
Grants.  The following review criteria will apply:
 
o  scientific, technical, scholarly or medical significance and
originality of proposed research;
 
o  appropriateness and adequacy of the experimental or scholarly
approach and methodology proposed to carry out the research;
 
o  qualifications and research experience of the Principal
Investigator and staff, particularly, but not exclusively, in the
area of the proposed research;
 
o  availability of the resources necessary to perform the research;
and
 
o  appropriateness of the proposed budget and duration in relation to
the proposed research.
 
The initial review group will also examine the provisions for the
protection of human and animal subjects and the safety of the
research environment.
 
In addition to the review criteria for R01 and R29 grant applications
listed above, the following additional review criteria will be
applied to the evaluation of education grant (R25) applications:
 
o  Potential of the project, through clearly defined objectives, to
educate the general public, professionals and policy makers regarding
the ethical, legal and social issues related to genetics research;
 
o  Extent to which the approach:
   - provides a needs assessment and impact statement;
   - defines and demonstrates the receptivity of the target audience;
   - demonstrates awareness of relevant literature and existing
professional and public education standards and resources;
   - documents the transferability/transportability of model;
   - involves the target audience in planning, development and
implementation;
   - involves genome scientists, genetics specialists, education
specialists, bioethicists, and other individuals as necessary from a
wide array of disciplines and criteria for their selection;
   - includes plans for publicizing the availability of the program
to the appropriate community(s);
   - includes plans for recruiting potential participants, including
women and underrepresented minorities, as appropriate;
   - includes plans for formative and summative evaluations;
   - includes plans for dissemination;
 
o  Qualifications of the course director(s) and the faculty;
 
o  Adequacy and availability of the relevant facilities,
 
o  Plans for independent support of project following pilot testing,
if appropriate; and
 
o  Appropriateness of the budget.
 
In addition to the review criteria for R01 and R29 grant applications
listed above, the following additional review criteria will be
applied to the evaluation of conference grant (R13) applications:
 
o  Justification for proposed workshop/conference, i.e., importance
to community, timeliness, need;
 
o  Qualifications/appropriateness of organizers and participants;
 
o  Scope, content and format of proposed conference/workshop;
 
o  Plans for inviting and selecting speakers;
 
o  Plans for including women and minorities as speakers;
 
o  Appropriateness/adequacy of conference site and facilities,
including accessibility for persons with disabilities;
 
o  Plans for dissemination of information generated by
conference/workshop; and
 
o  Appropriateness of the budget.
 
AWARD CRITERIA
 
Applications will compete for available funds with all other approved
applications assigned to that institute or center.  The following
will be considered in making funding decisions: quality of the
proposed project as determined by peer review, availability of funds,
and program priority.  NCHGR, NIMH and NINR will use the following
additional criteria in making awards:
 
o  potential impact of the proposed project to provide insight into,
or solutions to, critical ethical, legal and social issues;
 
o  relevance to the high priority areas established by the ELSI
Program of NCHGR, the Genetics Research Program of NIMH and the
NINR's program of genetics research related to ethical issues and
decision making of healthy lifestyles choices before and after
genetic testing; and
 
o  balance among funded projects to address the high priority areas.
 
Grant funds may be used for expenses clearly related and necessary to
conduct the proposed research, including both direct costs and
allowable indirect costs.  Grant funds may not be used to create a
treatment, rehabilitation or other service program.
 
In order for the NIH to fund applications from foreign institutions,
the application must meet the following three criteria: (1) The
proposed project must have special relevance to the mission and
objectives of the awarding organization and have the potential to
advance knowledge that will benefit the United States; (2) The
project must present special opportunities for furthering research
programs through the use of unusual talent resources, populations, or
environmental conditions in other countries which are not readily
available in the United States or which provide augmentation of
existing U.S. resources; and (3) The foreign grant application must
be in the upper half of the research grant priority scores.  Because
most of the ethical, legal and social issues which are the focus of
this announcement are intrinsically specific to the U.S. cultural,
social and legal context, it is not anticipated that applications
from foreign institutions will be able to meet all three criteria
cited.  However, it is anticipated that U.S. collaborations with
foreign investigators and subcontracts to foreign institutions could
meet all criteria.
 
INQUIRIES
 
Inquiries are encouraged.  The opportunity to clarify any issues or
questions from potential applicants is welcomed.
 
Direct inquiries regarding programmatic issues to:
 
Elizabeth J. Thomson, M.S., R.N.
Ethical, Legal, and Social Implications Branch
National Center for Human Genome Research
Building 38A, Room 617
38 Library Drive MSC 6050
Bethesda, MD  20892-6050
Telephone:  (301) 402-4997
FAX:  (301) 402-1950
Email:  [email protected]
 
Steven O. Moldin, Ph.D.
Division of Clinical and Treatment Research
National Institute of Mental Health
5600 Fishers Lane, Room 18C-14
Rockville, MD  20857
Telephone:  (301) 443-4709
FAX:  (301) 443-6000
Email:  [email protected]
 
Hilary D. Sigmon, Ph.D., R.N.
National Institute of Nursing Research
Building 45, Room 3AN-18
45 Center Drive, MSC 6300
Bethesda, MD  20892-6300
Telephone:  (301) 594-5970
FAX:  (301) 480-8260
Email:  [email protected]
 
Direct inquiries regarding fiscal matters to:
 
Jean Cahill
Grants and Contracts Management Branch
National Center for Human Genome Research
Building 38A, Room 613
38 Library Drive  MSC 6050
Bethesda, MD  20892-6050
Telephone:  (301) 402-0733
FAX:  (301) 402-1951
Email:  [email protected]
 
Diana S. Trunnell
Grants Management Branch
National Institute of Mental Health
5600 Fishers Lane, Room 7C-08
Rockville, MD  20857
Telephone:  (301) 443-3065
FAX:  (301) 443-6885
Email:  [email protected]
 
Jeff Carow
Grants and Contracts Management Branch
National Institute of Nursing Research
Building 45, Room 3AN32
Bethesda, MD  20892-6301
Telephone:  (301) 594-6869
FAX:  (301) 480-8256
Email: jcarow:ep.ninr.nih.gov
 
AUTHORITY AND REGULATIONS
 
This program is described in the Catalog of Federal Domestic
Assistance No. 93.172, Human Genome Research, No. 93.242, Mental
Health Research and No. 93.361, Nursing Research.  Awards are made
under authorization of the Public Health Service Act, Title IV, Part
A (Public Law 78-410, as amended by Public Law 99-158, 42 USC 241 and
285) and administered under PHS grants policies and Federal
Regulations 42 CFR 52 45 CFR Part 74.  The program is not subject to
the intergovernmental review requirements of Executive Order 12372 or
Health Systems Agency review.  Awards will be administered under PHS
grants policy as stated in the PHS Grants Policy Statement (April 1,
1994).
 
The PHS strongly encourages all grant and contract recipients to
provide a smoke-free workplace and promote the non-use of all tobacco
products.  In addition, Public Law 103-227, the Pro-Children Act of
1994, prohibits smoking in certain facilities (or in some cases, any
portion of a facility) in which regular or routine education,
library, day care, health care or early childhood development
services are provided to children.  This is consistent with the PHS
mission to protect and advance the physical and mental health of the
American people.
 
.

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