Table S1: Overview of projects in the CSER Consortium
PROJECT
OBJECTIVE
POPULATION
METHODS
Grants funded under RFA-HG-10-017, Clinical Sequencing Exploratory Research (U01) (Project #3
– ELSI research)
Explore the use of whole exome sequencing as a
Adult patients;
Focus
University of
diagnostic tool in the care of a broad array of
parents;
groups;
North Carolina
patients, including traditionally underrepresented
pediatric
surveys;
Chapel Hill
populations; evaluate its performance; identify
patients
qualitative
critical clinical characteristics that can guide its
interviews;
North Carolina
application; and measure the impact of such
discourse
clinical genomic
information on patients and providers. Develop
analysis
evaluation by
educational materials to enable patients to make
NextGen exome
decisions about appropriate return of results. The
sequencing
impact of collateral information will be assessed at
(NCGENES)
the level of the provider, laboratory, and patient.
Define a scalable model for the integration of
Adult patients;
Surveys;
Dana-Farber
clinical sequencing into cancer care. Establish a
physicians
qualitative
Cancer
robust framework for generation, interpretation,
interviews;
Institute/Broad
and clinical implementation of cancer WES.
ethnographic
Configure a clinical formalism through which
analysis;
The use of wholemedical
exome sequencing oncologists incorporate genomic information into
their management plan and report the results to
record
to guide the care
cancer patients and their families. Evaluate the
review
of cancer patients
impact of sequencing integration on oncologists
(CanSeq)
and patients.
Explore and compare the impact of using WGS in Adult patients;
Surveys;
Brigham and
clinical conditions that model forms of General
physicians
qualitative
Women’s
Genomic Medicine and Disease-Specific Genomic
interviews;
Hospital
Medicine approaches. Conduct an exploratory
discourse
clinical trial randomizing patients within each of
analysis;
Integration of
these models to receive clinically meaningful
medical
whole-genome
information derived from WGS vs. current
record
sequencing into
standard of care. Create and safely test novel ways
reviews
clinical medicine
of integrating information from WGS into
(MedSeq)
physician care of patients.
Investigate aspects of using exomic data clinically Adult patients;
Focus
University of
through a randomized controlled trial of usual care physicians
groups;
Washington
vs. the addition of exome analysis in patients who
surveys;
have clinical indications for colorectal
qualitative
Clinical
cancer/polyposis (CRCP) genetic testing. Evaluate
interviews;
sequencing in
the effectiveness of this technology for the
discourse
cancer: clinical
identification of clinically relevant CRCP gene
analysis
ethical and
mutations, cost, and patient derived measures.
technological
Determine which results to return and how to best
studies (NEXT
incorporate genomic data into official medical
Medicine)
records. CLIA certified results will be returned to
the participants and the experiences of patients
will be evaluated.
Study effects of genomic sequencing for 4 groups
Physicians;
Focus
Children’s
of genetically heterogeneous pediatric disorders.
parents;
groups;
Hospital of
Develop recommendations for consenting and
pediatric
surveys;
Philadelphia
return of results in pediatric practice, for carrying
patients
qualitative
interviews;
Applying genomic out, interpreting and reporting the sequencing
sequencing in
pediatrics
(PediSeq)
data. Develop decision support tools for
discourse
integration into electronic health record. Assess
analysis
the outcomes of sequencing from the perspective
of children, parents and primary care providers.
Physicians;
Surveys;
Baylor College of Integrate CLIA-certified germline and tumor
parents;
qualitative
Medicine
exome sequencing information into the care of
pediatric
interviews;
childhood cancer patients with high-risk solid
patients
discourse
tumors and brain tumors. Assess the impact of
Incorporation of
analysis
WES data reported by a novel web-based platform
genomic
with links to existing data for each variant
sequencing into
reported and presented through a graphical display
pediatric cancer
that will facilitate physician disclosure of complex
care (BASIC3)
data to parents. Perform quantitative analysis of
physician communication in disclosure of
genome-scale data, and assess parental
understanding and preferences for receiving
genome scale data.
Grants funded under RFA-HG-11-003, Development of a Preliminary Evidence Base to Inform
Decision-making about Returning Research Results to Participants in Genomics Studies (R01)
Explore the extent to which research participants'
Parents;
Focus
Boston
preferences can reliably guide the return of
genomic
groups;
Children’s
individual genomic research results and how
research
qualitative
Hospital
participants' preferences regarding the return of
participants
interviews
Returning research results can be incorporated into a governance
results in children: structure for a genetic research registry or
Parental
biobank.
preferences and
expert oversight
Genomic
Surveys;
Seattle Children’s Work with experts in clinical genetics, genomics,
genetic counseling and biomedical informatics to
research
qualitative
Hospital
compare the use of traditional approaches for
participants
interviews
Innovative
returning research results (using face-to-face
approaches to
sessions with genetic counselors) to an innovative
returning results in web-based tool. Based on the study findings,
exome and
develop a framework, guidelines and proposed
genome
policies for returning genome sequencing results
sequencing studies to research participants.
(My46)
Investigate the preferences of participants who
Genomic
Surveys,
Columbia
have enrolled in genomic research studies with
research
qualitative
University
respect to getting back incidental genetic results,
participants;
interviews
Impact of return of as well as the potential psychosocial and
genomic
incidental genetic
behavioral consequences of receiving this
researchers
test results to
information. Analyze a range of possible
research
incidental findings that could be reported and
participants in the
explore researchers' varying responsibilities to
genomic era
report these results based upon their clinical and
psychosocial implications.
Grants funded under RFA-HG-11-004, Ethical, Legal, and Social Implications of Returning
Research Results to Genomic Research Participants (R21)
Develop a menu of potential approaches for
Genomic
Surveys;
Columbia
dealing with the challenges of informed consent
research
qualitative
University
that must be addressed before widespread efforts
participants;
interviews
to return genomic research results are put into
genomic
Challenges of
place. Obtain the perspectives of genomic
researchers
informed consent
in return of data
from genomic
research
investigators and research participants, their
suggestions for addressing them, and their
thoughts about the various options. Analyze the
normative issues involved and identify realistic
options for future researchers.
Identify criteria to guide decisions about returning
Vanderbilt
individual research results to children who
University
participate in genomic research. Examine U.S. law
Returning research and international guidelines about decisionresults of pediatric making for and by minors. Analyze what weight
should be given to various benefits potentially
genomic research
associated with returning pediatric research
to participants
results.
Conduct philosophical research to analyze
The Children’s
critically the claim that it is morally obligatory, or
Mercy Hospital
at least morally permissible, for genomic
The presumptive
researchers who study samples in biorepositories
case against
to return individual research results participants.
returning
Identify and consider potential solutions for any
individual results
significant practical challenges that may be
in biobanking
encountered if a biorepository decides not to
research
return individual research results.
Conduct research to develop the normative and
Johns Hopkins
legal framework that will be necessary to consider
University
if newborn screening programs are to be expanded
Return of research and if efforts are to be made to offer to return
results to parents for research conducted with
results from
dried blood spots. Evaluate existing state policies
samples obtained
on newborn screening and the development of
for newborn
biorepositories using dried blood samples, identify
screening
gaps in existing regulations, and develop
recommendations for policymakers.
Investigator-initiated grants
Develop effective ethical strategies for offering
University of
genomic incidental findings to participants in a
California San
biobank for pancreatic cancer. The approach will
Francisco/ Mayo
Clinic/ University be informed by studying the preferences of
biobank research participants and family members
of Minnesota
using mixed methods. Generate data on proband
and family preferences; produce detailed analyses
Disclosing
genomic incidental of the legal, ethical and practical issues raised
when incidental findings are identified among
findings in a
probands (both deceased and living); create
cancer biobank:
consensus recommendations, devise methods for
An ELSI
honoring preferences, and advance sound biobank
experiment
governance.
Describe the attitudes and beliefs of patients and
Cleveland Clinic
Lerner College of genetic professionals regarding the types of
Medicine of Case diagnostic possibilities that should be discussed
with patients prior to large-scale clinical mutation
Western Reserve
testing, and to characterize the attitudes and
University
beliefs of patients and genetic professionals
Presenting
regarding the types of diagnostic results that
diagnostic results
should be returned following genomic testing.
from large-scale
Pediatric
genomic
research
participants
Legal
analysis
Genomic
research
participants
Normative
analysis
Parents of
newborn
screening
research
participants
Normative
and legal
analysis
Genomic
research
participants;
family members
Surveys;
qualitative
interviews;
return of
results
prototype
experiment
Adult patients;
genetic
professionals
Surveys;
qualitative
interviews;
working
groups
clinical mutation
testing
National Institutes of Health Intramural project
Characterize intentions and choices to receive and
ClinSeq®
use different types of genomic sequencing
National Human
information, looking at key independent variables
Genome
such as attitudes toward sequencing, perceived
Research
benefits and risks. and uncertainty
Institute, NIH
Test interventions to return results and their affect
Predictors of
on desired outcomes including informed choice,
preferences,
decisional satisfaction, family communication and
uptake and use of
health care use.
genomic
sequencing
information
Adults (45-65
yrs) ranging in
health status
from healthy to
affected with
coronary artery
disease
Surveys;
focus
groups;
qualitative
interviews