Subject: RFA HG-9l-0l NIH Guide -Vol. 20, No. 14, April 5, 1991
From: Dot Baker <[email-masked]>
To: [email-masked]
Date: Tue, 02 Apr 91 13:36 EST

Hi Paul,
   Please post this one to the NIH Listserver as:
    RFAHG-91-01.910405
                      Dottie
 ---------------------------- Text of forwarded message -----------------------
 
$$XID RFA HG9101 HG-91-01 P1O1 *****************************************
 
STUDIES OF TESTING AND COUNSELING FOR CYSTIC FIBROSIS
MUTATIONS
 
RFA:  HG-91-01
 
P.T. 34; K.W. 1002019, 1002028, 0404021, 0414014
 
National Center for Human Genome Research
National Center for Nursing Research
National Institute of Child Health and Human Development
National Institute of Diabetes and Digestive and Kidney Diseases
 
Letter of Intent Receipt Date:  May 1, 1991
Application Receipt Date:  June 7, 1991
 
The National Center for Human Genome Research, the National
Center for Nursing Research, the National Institute of Child
Health and Human Development, and the National Institute of
Diabetes and Digestive and Kidney Diseases invite applications
for assistance awards for studies of the clinical delivery of
educational and counseling services for individuals and families
related to DNA-based testing for the genetic mutations that cause
cystic fibrosis.
 
BACKGROUND
 
Cystic fibrosis (CF) is one of the most common autosomal
recessive disorders, with a carrier frequency of about 1 in
25 among United States citizens of European ancestry.  In this
population about 75 percent of the mutations in CF patients
correspond to a three base pair deletion (designated delta
F508) from the coding region of the CF gene.  At this level of
detection, just over half of couples at risk of having
children with CF can be identified as carriers of
pathological CF mutations.  Additional CF mutations are now
being identified that will make it possible to detect an even
higher percentage of people at risk.
 
As a result of discussions within the scientific community,
it has become clear that evaluations of alternative
approaches to genetic education, testing, and counseling are
needed in order to establish the professional practices that
should govern the provision of DNA-based testing for CF
carrier status.  Recent experience with the widespread
introduction of other genetic tests suggests the value of
such studies in helping to establish practices that would
improve professional interpretation and patient understanding
of CF testing and test results.  Moreover, there now exists a
body of knowledge about providing health risk information to
individuals and families upon which such studies can build.
As demand for CF testing begins to escalate, however, there
is increasingly limited time to gather the information
necessary to ready genetic services in this area.
 
The pace of advances in human genetics suggest that whatever
professional practices develop for CF testing it will provide
important precedents for the clinical introduction of
subsequent DNA-based genetic tests over the next decades.
Thus, there is a special need for CF carrier testing studies
that use what is known about health education to develop a
generic model for the long-range integration of genetic
services into health care.
 
RESEARCH GOALS
 
This Request for Applications (RFA) is intended to solicit
research projects that can be
used to identify clinical practices that best increase
patient understanding of disease-gene carrier testing and
test results, and best protect individuals and families from
test-related psychological harm, stigmatization, and
discrimination.  Research questions that are appropriately
addressed in applications responding to this RFA could
include, but are not limited to:
 
1.  What are the levels of understanding of and interest in
CF carrier testing among different populations?
 
The purpose of CF carrier testing is to better inform
interested people of their reproductive health risks.  In
order to develop services effectively, it will be important
to assess knowledge about and interest in this service among
individuals of different reproductive status (i.e., pre- and
post-conception), socio-economic strata, and possibly age and
ethnic groups.  Different approaches may be needed for people
in different groups.
 
2.  What are the optimum forms and levels of pre-test
education for different populations?
 
Different educational materials, methods, and settings could
be tested in terms of several variables, including:  1)
effectiveness in enhancing individual and family
understanding of medical and genetic information; 2) ability
to adapt delivery of information to needs of people of
different ages, educational levels, and cultural groups; 3)
ability to enhance autonomous choices by individuals and
families with regards to CF carrier testing.
 
3.  What post-test counseling strategies are most effective
in terms of the understanding and psychological health of
individuals and families tested?
 
Research topics to be addressed here might include the
relative merits of different counseling models to address the
psychological impact of positive or negative test results,
other unexpected information, uncertain results, and false
positive or negative findings, and to facilitate informed
decision-making by individuals and families.
 
4.  What are the optimum settings for providing CF carrier
testing services?
 
Traditionally, such services have been provided by medical
genetics programs.  How effectively can they be delivered in
other health care settings, such as primary care
practitioners' offices, HMOs, or community-based sites?
 
5.  What record-keeping and disclosure policies best protect
against breaches of confidentiality, stigmatization, and
discrimination?
 
Studies of different policies and practices with respect to
the confidentiality of test results may be useful in
developing protections against social stigmatization and
discrimination as a result of carrier testing.
 
6.  What are the accuracy and cost effectiveness of various
types of tests?
 
A variety of testing methods are emerging for CF carrier
testing.  A comparative assessment of their clinical
efficiency and reliability is needed, particularly with an
eye towards their ability to accommodate tests for multiple
genetic conditions.
 
Applications responding to this RFA need not attempt to
address all of these research questions.  For all approaches
assessed, however, questions of relative effectiveness,
relative costs, and relative ability to meet the demand for
services need to be evaluated.
 
In order to make reliable comparisons possible between
studies, it is desirable that the research teams eventually
supported under this RFA work together to coordinate their
efforts, so that all important subsets of the overall agenda
are adequately addressed and, where appropriate, some
features of the research, such as evaluation measures and
tools, cost accounting, laboratory quality control procedures,
and human subjects protections, can be standardized across
the participating sites.  To facilitate such coordination,
grantee workshops will be arranged after awards have been
made.  Funds for travel to this meeting for as many as two
investigators may be requested per year.
 
ELIGIBILITY
 
Applicants may be non-profit or for-profit organizations,
including universities, public health departments, voluntary
organizations, or combinations thereof.  Among a team of
applicants, one institution must be proposed as the lead
organization to serve as the Grantee Institution and assume
responsibility for the fiscal and programmatic conduct of the
project.  Other members of the team should be proposed based
on individual consortium arrangements (subcontracts) with
those organizations.  The Grantee Institution and any
proposed consortium must have the staff and facilities
required for the proposed program.
 
MECHANISM OF SUPPORT
 
The RFA is a one-time solicitation for applications for
research project grants (R01).  The award period will be for
up to three years and is renewable.  It is anticipated that
$1 million will be available during fiscal year 1991
for approximately five studies, although the number of awards
is contingent upon the quality, scope, and cost of the
applications received and the actual availability of
appropriated funds.
 
REVIEW PROCEDURES
 
Applications submitted in response to this RFA will be
reviewed in accordance with the usual NIH peer review
procedures.  The applications will be reviewed for scientific
merit by an initial review group (IRG) organized for this
purpose by the Office of Scientific Review, National Center
for Human Genome Research.  A second-level review will be
conducted by the appropriate national advisory council.
 
Criteria that will be used to assess the scientific merit of
applications are:
 
     o    Overall scientific and technical merit of the
          research;
 
     o    Training, research track record, and study-related
          experience of the research team;
 
     o    Potential for achieving the goals of this RFA;
 
     o    Adequacy of the available research and clinical
          facilities;
 
     o    Provision for the protection of human subjects and
          attention to NIH policies regarding women and
          minorities in study populations; and
 
     o    Appropriateness of the requested budget for the
          work proposed.
 
If the application submitted in response to this RFA is
substantially similar to a research grant application already
submitted to the NIH for review, but has not yet been
reviewed, the applicant will be asked to withdraw either the
pending application or the new one.  Simultaneous submission
of identical applications will not be allowed, nor will
essentially identical applications be reviewed by different
review committees.  This does not preclude the submission of
substantial revisions of applications already reviewed, but
such applications must include an Introduction addressing the
previous critique.
 
AWARD CRITERIA
 
Funding decisions will be based on the recommendations of the
IRG and the advisory council regarding the scientific merit
and program relevance of the proposed research.  The
willingness of applicants to participate in post-award
planning towards the coordination of research evaluation
tools, and their ability to contribute uniquely to the mix of
studies, will be considered before an award is made.
 
SPECIAL REQUIREMENTS
 
A. The laboratory costs of testing are ineligible for NIH
research grant support since they are considered part of the
clinical care of the individuals involved in the studies.
Applicants are urged to obtain institutional and
corporate support for the laboratory costs of testing during
these clinical studies, to improve access to the studies by
all interested patients, and to anticipate the availability of
less expensive commercial testing in the future.
 
B.  SPECIAL INSTRUCTIONS TO APPLICANTS REGARDING IMPLEMENTATION OF
NIH POLICIES CONCERNING INCLUSION OF WOMEN AND MINORITIES IN
CLINICAL RESEARCH STUDY POPULATIONS
 
NIH and ADAMHA policy is that applicants for NIH/ADAMHA clinical
research grants and cooperative agreements will be required to
include minorities and women in study populations so that
research findings can be of benefit to all persons at risk of the
disease, disorder or condition under study; special emphasis
should be placed on the need for inclusion of minorities and
women in studies of diseases, disorders and conditions which
disproportionately affect them.  This policy is intended to apply
to males and females of all ages.  If women or minorities are
excluded or inadequately represented in clinical research,
particularly in proposed population-based studies, a clear
compelling rationale should be provided.
 
The composition of the proposed study population must be
described in terms of gender and racial/ethnic group.  In
addition, gender and racial/ethnic issues should be addressed in
developing a research design and sample size appropriate for the
scientific objectives of the study.  This information should be
included in the form PHS 398 in Section 2, A-D of the Research
Plan AND summarized in Section 2, E, Human Subjects.
Applicants/offerors are urged to assess carefully the feasibility
of including the broadest possible representation of minority
groups.  However, NIH recognizes that it may not be feasible or
appropriate in all research projects to include representation of
the full array of United States racial/ethnic minority
populations (i.e., Native Americans (including American Indians
or Alaskan Natives), Asian/Pacific Islanders, Blacks, Hispanics).
 
The rationale for studies on single minority population groups
should be provided.
 
For the purpose of this policy, clinical research includes human
biomedical and behavioral studies of etiology, epidemiology,
prevention (and preventive strategies), diagnosis, or treatment
of diseases, disorders or conditions, including but not limited to
clinical trials.
 
The usual NIH policies concerning research on human subjects also
apply.  Basic research or clinical studies in which human tissues
cannot be identified or linked to individuals are excluded.
However, every effort should be made to include human tissues
from women and racial/ethnic minorities when it is important to
apply the results of the study broadly, and this should be
addressed by applicants.
 
For foreign awards, the policy on inclusion of women applies
fully; since the definition of minority differs in other
countries, the applicant must discuss the relevance of research
involving foreign population groups to the United States'
populations, including minorities.
 
If the required information is not contained within the
application, the application will be returned.
 
Peer reviewers will address specifically whether the research
plan in the application conforms to these policies.  If the
representation of women or minorities in a study design is
inadequate to answer the scientific question(s) addressed AND the
justification for the selected study population is inadequate, it
will be considered a scientific weakness or deficiency in the
study design and will be reflected in assigning the priority
score to the application.
 
All applications for clinical research submitted to NIH are
required to address these policies.  NIH funding components will
not award grants or cooperative agreements that do not comply
with these policies.
 
LETTER OF INTENT
 
Prospective applicants are asked to submit a letter of intent
by May 1, 1991.  This letter should identify the key
personnel and a descriptive title.
The letter of
intent is requested in order to provide an indication of the
number and scope of applications to be reviewed.  The letter
of intent does not commit the sender to submit an
application, nor is it a requirement for submission of an
application.  Please send letters of intent to:
 
Eric T. Juengst, Ph.D.
Program Director
Ethical, Legal and Social Implications Program
National Center for Human Genome Research
National Institutes of Health
Building 38A, Room 612
Bethesda, MD  20892
 
APPLICATION PROCEDURES
 
Applications must be submitted using the form PHS 398
(rev. 10/88).  The RFA label available in the
application kit MUST be affixed to the bottom of the face
page.  Failure to use this label could result in delayed
processing of the application such that it might not reach
the review committee in time.  Application kits are available
in the business or grants office at most academic or research
institutions and from the Division of Research Grants,
Westwood Building, Room 449,
National Institutes of Health, Bethesda, MD 20892, telephone
(301) 495-7441.  Applications will be accepted
in accordance with the following schedule:
 
Receipt of applications:  June 7, 1991
 
Initial review:  July 1991
 
Council review:  September 1991
 
Earliest award date:  September 30, 1991
 
It is essential that the applicant type  "Studies of Testing
and Counseling for CF Mutations" and the RFA number HG-91-01
on line 2 of the face page of the application form.  The
original and four copies of the application must be
submitted to the following office:
 
Grant Application Receipt Office
Division of Research Grants
National Institutes of Health
Westwood Building, Room 240
Bethesda, MD  20892**
 
To expedite the review process, it is important to submit two
additional copies of the application directly to:
 
Office of Scientific Review
National Center for Human Genome Research
National Institutes of Health
Building 38A, Room 604
Bethesda, MD  20892
 
The program and grants management officials welcome the
opportunity to clarify any issues or questions related to
this RFA and encourage written and telephone inquiries.
 
Any additional information regarding the program can be
obtained from:
 
Eric T. Juengst, Ph.D.
Program Director
Ethical, Legal and Social Implications Program
National Center for Human Genome Research
National Institutes of Health
Building 38A, Room 612
Bethesda, MD  20892
Telephone:  (301) 496-7531
E-mail:  [email-masked]
 
Felix De La Cruz, Ph.D.
Chief, Mental Retardation and
Developmental Disabilities Branch
National Institute for Child Health and Human Development
National Institutes of Health
Building EPN, Room 631
Bethesda, MD  20892
Telephone:  (301) 496-1383
 
Patricia Moritz, Ph.D., R.N.
Chief, Nursing Systems Branch
National Center for Nursing Research
National Institutes of Health
Building 31, Room 5B09
Bethesda, MD  20892
Telephone:  (301) 496-0523
 
Judith Fradkin, M.D.
Chief, Endocrinology and Metabolic Diseases Branch
National Institute of Diabetes and Digestive and Kidney Diseases
Westwood Building, Room 603
Bethesda, MD  20892
Telephone:  (301) 496-7791
 
For information about PHS Grants Policy, applicants may
contact:
 
Ms. Alice Thomas
Chief, Grants and Contracts Management
NCHGR
National Institutes of Health
Building 38A, Room 613
Bethesda, MD  20892
Telephone:  (301) 402-0733
 
Awards will be made under the authority of the Public Health
Service Act, Section 301 and Title 4 (Public Law 78-410, as
amended by 42 U.S.C. 241 and 284) and administered under PHS
grants policies and Federal Regulations 42 CFR Part 52 and 45
CFR Part 74.  This program is not subject to the
intergovernmental review requirement of Executive Order 12372
or to Health Systems Agency review.  This program is described
in the Catalog of Federal Domestic Assistance 93.865,
Research for Mothers and Children.