SEC. 2. FINDINGS. 
The Congress makes the following findings: 
(1) The completion of the Human Genome 
Project in 2003 paved the way for a more sophisti-
cated understanding of diseases and drug responses, 
which has contributed to the advent of ‘‘personalized 
medicine’’. 
(2) Personalized medicine is the application of 
genomic and molecular data to better target the de-
livery of health care, facilitate the discovery and clin-
ical testing of new products, help determine a per-
son’s predisposition to a particular disease or condi-
tion, and identify any targeted prevention strategies 
for that predisposition. 
(3) Many commonly-used drugs are typically ef-
fective in only 40 to 60 percent of the patient popu-
lation. 
(4) In the United States, up to 15 percent of 
hospitalized patients experience a serious adverse 
drug reaction, and as many as 100,000 deaths are 
attributed annually to such reactions. 
(5) Pharmacogenomics has the potential to dra-
matically increase the efficacy and safety of drugs 
and reduce health care costs, and is fundamental to 
the practice of genome-based personalized medicine. 
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(6) Pharmacogenomics is the study of drug re-
sponse in the context of the entire genome. This rel-
atively new field combines pharmacology (the science 
of drugs) and genomics (the study of genes and 
their functions) to develop safer and more effective 
medications and dosing regimens that will be tai-
lored to an individual’s genetic makeup. 
(7) The cancer drug Gleevec was developed 
based on knowledge of the chromosomal trans-
location that causes chronic myelogenous leukemia, 
which is characterized by an abnormal growth in the 
number of white blood cells. The mean 5-year sur-
vival for affected patients who are treated with 
Gleevec is 95 percent, which contrasts to a 5-year 
survival of 50 percent for patients treated with older 
therapies. 
(8) The ERBB2 gene helps cells grow, divide, 
and repair themselves. One in 4 breast cancers are 
characterized by extra copies of this gene, which 
causes uncontrolled and rapid tumor growth. 
Pharmacogenomics research led to both the develop-
ment of the test for this type of breast cancer as 
well as an effective biologic, Herceptin. 
(9) Warfarin, a blood thinner used to prevent 
the formation of life-threatening clots, significantly 
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elevates patient risk for bleeding in the head or gas 
trointestinal tract, both of which are associated with 
increased rates of hospitalization, disability, and 
death. Pharmacogenomic researchers have identified 
and developed tests for genetic variants in the 
cytochrome P450 metabolizing enzyme (CYP2C9) 
and vitamin K epoxide reductase complex that in-
crease risk for these adverse events. By using a com-
panion diagnostic test for these two genes, physi-
cians can modify the dosing regimen and decrease 
the likelihood of adverse events. 
(10) 
Although 
the 
cancer 
drug 
6- 
mercaptopurine (6–MP) cures 85 percent of children 
with acute lymphoblastic leukemia, historically, a 
significant number of patients would die inexplicably 
from the drug. Researchers later discovered that 1 
in 300 individuals have only a non-functional form 
of 
the 
metabolizing 
enzyme 
thiopurine 
methyltransferase (TPMT) and, as a result, should 
receive only a fraction of the standard dose of 6 
(11) Research into the genetics of breast cancer 
identified two pivotal genes, BRCA1 and BRCA2, 
mutations which correspond to a significantly in-
creased lifetime risk of developing breast and ovar-
ian cancer. Individuals in affected families or with 
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specific risk factors may use genetic testing to iden-
tify whether they carry mutations in these genes and 
to inform their decisions about treatment options, 
including prophylactic mastectomy and oopho-
rectomy. 
(12) Realizing the promise of personalized med-
icine will require continued Federal leadership and 
agency collaboration, expansion, and acceleration of 
genomics research, a capable genomics workforce, in-
centives to encourage development and collection of 
data on the analytic and clinical validity and clinical 
utility of genomic tests and therapies, and improved 
regulation over the quality of genetic tests, direct-to 
consumer advertising of genetic tests, and use of 
personal genomic information. 
SEC. 3. DEFINITIONS. 
In this Act: 
(1) BIOBANK.—The term ‘‘biobank’’ means a 
shared repository of human biological specimens that 
may also include data associated with such speci-
mens collected for medical or research purposes. 
Human biological specimens may include body 
fluids, tissues, blood, cells, or materials derived from 
these sources, and data associated with such speci-
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mens may include health information or environ-
mental data. 
(2) 
BIOMARKER.—The 
term 
‘‘biomarker’’ 
means an analyte found in or derived from a patient 
specimen that is objectively measured and evaluated 
as an indicator of normal biologic processes, patho-
genic processes, or pharmacologic responses to a 
therapeutic intervention. 
(3) CLIA.—The term ‘‘CLIA’’ means section 
353 of the Public Health Service Act (42 U.S.C. 
263a; commonly referred to as the ‘‘Clinical Labora-
tory Improvement Amendments of 1988’’). 
(4) ENVIRONMENT.—The term ‘‘environment’’ 
means conditions or circumstances that are non-
genetic but may have a health impact. 
(5) GENETIC TEST.—The term ‘‘genetic test’’ 
means an analysis of human DNA, RNA, chro-
mosomes, proteins, or metabolites, that detects 
genotypes, mutations, or chromosomal changes. 
(6) IWG.—The term ‘‘IWG’’ means the 
Genomics and Personalized Medicine Interagency 
Working Group established pursuant to section 4. 
(7) PHARMACOGENETIC TEST.— 
(A) IN
GENERAL.—The term ‘‘pharma-
cogenetic test’’ means a genetic test intended to 
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identify individual variations in DNA sequence 
related to drug absorption and disposition 
(pharmacokinetics) or drug action (pharmaco-
dynamics), including polymorphic variation in 
the genes that encode the functions of trans-
porters, receptors, metabolizing enzymes, and 
other proteins, or other genomic variations, in-
cluding rearrangements, insertions, and dele-
tions, or alterations in gene expression or inac-
tivation, that may be correlated with pharma-
cological function and therapeutic response. 
(B) VARIATIONS AND ALTERATIONS.—For 
purposes of this paragraph, the variations or al-
terations referred to in subparagraph (A) may 
be a pattern or profile of change, rather than 
a change in an individual marker. 
(8) SECRETARY.—The term ‘‘Secretary’’ means 
the Secretary of Health and Human Services. 
SEC. 4. GENOMICS AND PERSONALIZED MEDICINE INTER 
AGENCY WORKING GROUP. 
(a) IN GENERAL.—Not later than 90 days after the 
date of the enactment of this Act, the Secretary shall es-
tablish within the Department of Health and Human 
Services the Genomics and Personalized Medicine Inter-
agency Working Group (‘‘IWG’’). 
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(b) DUTIES.—The IWG shall facilitate collaboration, 
coordination, and integration of activities within the De-
partment of Health and Human Services and other Fed-
eral agencies, and among such agencies and relevant pub-
lic and private entities, by— 
(1) reviewing current and proposed genomic ini-
tiatives, in order to identify shared interests and le-
verage resources; 
(2) prioritizing new genomic initiatives, based 
on areas of need as measured by public health im-
pact; 
(3) reaching consensus on standardized genomic 
terminology, definitions, and data code sets for 
adoption and use in federally conducted or supported 
programs; 
(4) establishing and disseminating quality 
standards and guidelines for the collection, proc-
essing, archiving, storage, and dissemination of 
genomic samples and data for research and clinical 
purposes; 
(5) developing and promulgating guidelines re-
garding procedures, protocols, and policies for the 
safeguarding of the privacy of biobank subjects, in 
accordance with the Office for Human Research 
Protection and Clinical Research Policy Analysis and 
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Coordination Program at the National Institutes of 
Health, and other guidelines as appropriate; 
(6) reviewing and making recommendations to 
address ownership and patient access issues with re-
spect to genomic samples and analyses; 
(7) developing and promulgating guidelines re-
garding procedures, protocols, and policies for access 
to patient data, genomic samples, and associated 
health information by nongovernmental entities for 
research purposes; 
(8) developing and disseminating guidelines for 
constructing informed consent forms that ensure pa-
tient privacy and confidentiality of associated clinical 
data and information, understanding of research 
procedures, benefits, risks, rights, and responsibil-
ities, and continuous voluntary participation; and 
(9) providing recommendations for the estab-
lishment of a distributed database, pursuant to sec-
tion 5. 
(c) IWG CHAIRPERSON.—The Secretary, or his or 
her designee, shall serve as chairperson of the IWG. 
(d) MEMBERS.—In addition to the Secretary, the 
IWG shall include members from— 
(1) the National Institutes of Health; 
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(2) the Centers for Disease Control and Preven-
tion; 
(3) the Food and Drug Administration; 
(4) the Health Resources and Services Adminis-
tration; 
(5) the Office of Minority Health; 
(6) the Agency for Healthcare Research and 
Quality; 
(7) the Centers for Medicare & Medicaid Serv-
ices; 
(8) the Veterans Health Administration; 
(9) the Office of the National Coordinator for 
Health Information Technology; 
(10) the Department of Energy; 
(11) the Armed Forces Institute of Pathology; 
(12) the Indian Health Service; 
(13) other Federal departments; and 
(14) such other agencies as determined appro-
priate by the Secretary. 
(e) PUBLIC INPUT.—The IWG shall solicit input 
from relevant stakeholders with respect to meeting the du-
ties described in subsection (b). 
(f) REPORT.—Not later than 18 months after the 
date of the enactment of this Act, the Secretary shall pre-
pare and submit a report to the appropriate committees 
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of the Congress and to the public on IWG deliberations, 
activities, and recommendations with respect to meeting 
the duties described in subsection (b). 
(g) TERMINATION.—The IWG shall terminate after 
submitting the report described in subsection (f), or later 
at the discretion of the Secretary. 
(h) AUTHORIZATION OF APPROPRIATIONS.—There is 
authorized to be appropriated to carry out this section, 
$5,000,000 for each of fiscal years 2009 and 2010. 
SEC. 5. EXPANSION AND ACCELERATION OF GENETIC AND 
GENOMICS RESEARCH. 
(a) GENETICS AND GENOMICS RESEARCH.—The Sec-
retary shall expand and accelerate research and programs 
to collect genetic and genomic data that will advance the 
field of genomics and personalized medicine, with 
prioritized focus on— 
(1) studies of diseases and health conditions 
with substantial public health impact; 
(2) population-based studies of genotype preva-
lence, gene-disease association, gene-drug response 
association, and gene-environment interactions; 
(3) systematic review and synthesis of the re-
sults of population-based studies using methods of 
human genome epidemiology; 
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