**CONCEPT CLEARANCE FOR RFA**

**\
Public Consultation to Inform the Design of Possible**

**Large-Scale Studies of Genes and Environment in Common Disease**

**NHGRI Advisory Council, February 2006**

**Background**

Information from the Human Genome Project will be vital for helping to
define the genetic and environmental factors that contribute to health
and disease. Well-designed case-control studies are essential for this,
but rigorous and unbiased conclusions about the causes of diseases and
their population-wide impact will require a representative population to
be monitored over time. Thus, it has been suggested that the United
States should consider a large U.S. longitudinal cohort study of genes
and environment in health and disease. (See FS Collins, the case for a
US prospective cohort study of genes and environment, *Nature,* vol.
429, May 27, 2004.)

In October 2005 the Secretary's Advisory Committee on Genetics, Health,
and Society (SACGHS) held a day-long discussion regarding a possible
large U.S.-based longitudinal cohort study of the role of genes and
environment in common disease. SACGHS recommended that a pilot study to
assess public attitudes toward such a study would be an important first
step toward engaging the public in this type of research.

**Purpose**

The purpose of this funding opportunity would be to provide support for
a specialized center to conduct a pilot public consultation study to
obtain wide societal input to inform the design of one or more possible
large U.S. population-based studies, including a longitudinal cohort
study, of the role of genes and environment in health disease.

The goal of the pilot public consultation study would be to obtain vital
input relevant to the design and implementation of such an initiative
from participants who reflect the broad demographic makeup of the U.S..
The findings from these activities will be used to assess public
attitudes regarding this type of research: to identify preconceptions
and concerns; define expectations about privacy protections, return of
results, and other matters; and inform full-scale efforts for public
consultation with the specific communities selected for study should
such a study eventually be launched.

**Methodologies to be used for the Pilot Public Consultation Study**

Based on the recommendations of SACGHS and of the expert panel that
deliberated about a possible longitudinal cohort study of this type, the
specialized center supported under this announcement would obtain the
preliminary public input into such a study through several
methodologies. The methods would be proposed by the applicants to
maximize the validity and usefulness of the information obtained, but in
general, would be expected to include surveys, focus groups, and public
meetings designed to explore the wide range of relevant issues.

It is anticipated that the pilot public consultation study conducted by
the specialized center supported by this announcement would not be the
only effort undertaken to consult the public or engage the relevant
communities should the longitudinal cohort study eventually be funded.
More targeted forms of community engagement, directed at the specific
communities from which participants in the large study will be
recruited, would eventually be implemented based on this pilot work if
the large-scale study were to proceed. This pilot work is thus intended
primarily as an initial assessment of the views of a broad range of the
American public regarding the relevant issues, and should not be viewed
as the sole means by which public input will eventually be obtained.

The findings of each of the elements of the pilot public consultation
study (surveys, focus groups, and public meetings) would be analyzed as
they proceed, and an overall analysis of the findings would also be
conducted. Preliminary analyses of the full data set would be completed
by September 2008 so that they can be incorporated into the design of
the longitudinal cohort study should it be determined to be feasible and
should it be funded within the next few years.

It is anticipated that the specialized center supported by this
announcement would work closely with representatives of the funding
agency in designing the survey instruments, the focus group guides, and
the final protocols for the public meetings. The specialized center
would be expected to cooperate closely with NHGRI.

**Eligible Investigators**

This initiative will be open only to U.S. investigators.

**Mechanism of Support**

This RFA would use the NIH U01 Cooperative Agreement award mechanism.

**Funds Available**

NHGRI would commit approximately \$1,050,000 over a two-year period
through this announcement (\$500,000 in FY2006, \$550,000 in FY2007).
Support will also be sought from other NIH Institutes. NHGRI anticipates
funding one award in response to this announcement.