The Laboratory Connection: Patients, Providers, Policymakers

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The Laboratory Connection Patients, Providers,
Policymakers

• April 20, 2007
• American Clinical Laboratory Association Annual
  Meeting
• Sharon F. Terry, MA
• President CEO, Genetic Alliance

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Elizabeth and Ian diagnosed with a genetic
condition 1994
2007
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PXE International, Inc. Disease Research,
Support and Advocacy Foundation Washington,
DC www.pxe.org
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Gene Discovery
BioBank Diagnostic testing developmentvia FDA
CLIA strategies
Patent Licensing IP management
Creation of a Diagnostic Test - CETT
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Coalition of over 600 advocacy
organizations Founded 1986 MISSION Transform
Leadership To increase the capacity of advocacy
organizations so they can achieve their missions
and leverage the voices of millions of
individuals affected by genetic conditions
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Traversing the diagnosed line, individuals and
families journey through the medical system
searching for services.
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One step over the line
Diagnosed
Not Yet Diagnosed
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Confusion Anxiety Desperation Fear Hype Expectati
ons Hope
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Onset of symptoms
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Advocates in the Information Age Business
models based on new economic constructs
Industrial Age (old) Information Age (new)
Control means of production Open
means of production Based on scarcity
Based on abundance
Hierarchical / Command Control Network /
Collaboration Linear / Sequential
Organic/Dynamic Win / Lose
Win / Win
Material/Object Information
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Where we focus

• Prolonged survival, or disease-free survival
• Improved QOL
• Avoidance of ineffective and/or toxic treatment
• Reduction in cost

• Screening
• Detection
• Diagnosis
• Prognosis
• Treatment Selection
• Monitoring Therapy Early Relapse

Terry SF, Terry PF, Rauen K, Uitto J, Bercovitch
L. Advocacy Organizations as Research
Organizations the PXE International example.
Nature Reviews Genetics. 2007 Feb Vol. 8, No. 2
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Access to Credible Genetics Information (ATCG)
Resources Network
Cooperative agreement 525036-02 with the
National Center on Birth Defects and
Developmental Disabilities, Centers for Disease
Control and Prevention (CDC).
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TOOLKIT Or what do you need to know? General
Science Medical/clinical Development Family Issues
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Metric
Junk Filter

• Whos saying it?
• When did they say it?
• Why did they say it?
• How do they know?
• So what?

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Score Card for the Metric
Visual Scale The squares provide a visual
representation of the level of quality, similar
to a Consumer Reports assessment. The unfilled
square corresponds to the lowest quality material
and a completely filled square represents the
highest quality. Refer to the definitions and
examples provided below to score the material
appropriately.
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Objectives
Collaboration Education and Test Translation

• To promote the development of new genetic tests
  for rare diseases.
• To facilitate the translation of genetic tests
  from research laboratories to clinical practices.
• To establish collaborations and provide education
  about each rare genetic disease related genetic
  research the clinical impact of testing.
• To support the collection and storage of genetic
  test result information in publicly accessible
  databases to leverage the information into new
  research and new treatment possibilities.
• www.cettprogram.org

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Guiding Philosophy

• All parties benefit when
• Quality of testing for rare disorders meets or
  exceeds existing standards
• Clinical laboratories, researchers, clinicians,
  and disease specific advocacy groups collaborate
• High-quality educational materials explain what
  the test can and cannot tell you and how best to
  use the test

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Applicants Collaborative Group

• Clinical (CLIA-certified) laboratory
• Researcher (laboratory and/or clinician)
• Disease specific advocacy group

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Review Criteria

• Scientific Evidence
• Proposed Methodology
• Impact on Healthcare
• Laboratory Qualifications
• Data Collection and Sharing Plan
• Educational Materials
• Evidence of Collaboration Empowered Roles
• Shared Development Costs

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Program Staff

• ORD Program Director
• Project Coordinator
• Scientific Advisor
• Review Board Coordinator
• NCBI Liaison
• Biochemical Advisor

Giovanna Spinella, MD Andrew Faucett, MS Suzanne
Hart, PhD Roberta Pagon, MD Lisa Forman,
PhD William Gahl, MD, PhD
www.cettprogram.org
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Tests Available NOW

• Joubert Syndrome (Prevention Genetics)
• Cornelia de Lange Syndrome - NIPBL (U Chicago)
• Cherubism (Toronto Sick Children)
• X-linked Chondrodysplasia Punctata (U Chicago)
• Kallman Syndrome (Gene DX)
• Progressive Familial Intrahepatic Cholestasis
  (Baylor)
• Russell Silver (Emory)
• MPS VI (Emory)
• Niemann Pick A/B (Emory)
• X-Linked Periventricular nodular heterotopia
• (Harvard U)

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Tests Available Soon

• Proposed Release by 05/2007
• Primary Ciliary Dyskinesia (UNC)
• Infantile Neuroaxonal dystrophy (Oregon HS)
• Arginase (UCLA)
• Approved In Development
• Cornelia de Lange SMC1L1 (U Chicago)
• Allan Herndon Dudley - MCT8 (U Chicago)
• 9q34 deletion (Emory)
• Epimerase GALE (Emory)
• MADD (U of CO at Denver)
• PXE (GeneDX)

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Policy Issues

• Discrimination in Insurance and Employment
• Lab Services
• Enhanced CLIA
• FDA Regulation
• Innovation
• Access
• Medicare Reform
• Reimbursement
• Adaptive Trials
• Disease Priorities
• Open Access

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Genetic Information Nondiscrimination Act H.R.
493 / S. 358
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Science Genetic Discrimination and Health
Insurance Collins et al October 1995
Clinton Executive Order 13145 To Prohibit
Discrimination in Federal Employment February
2000
Coalition for Genetic Fairness Founded Spring
1997
Settlement against Burlington Northern Santa
Fe Railway April 2001
Department of Labor Report Genetic Information
and the Workplace January 1997
Clinton endorses H.R. 306 July 1997
NIH-DOE ELSI National Action Plan on Breast
Cancer workshop on genetic discrimination in
employment October 1996
SACGT letter to Congress supporting S. 1322
and H.R. 2457 August 2000
Science Genetic Discrimination Perspectives of
Consumers Weiss et al October 1996
Science Privacy in Genetics Research Collins et
al August 1999
1995
1996
1997
1998
1999
2000
2001
2002
Senate hearing on S.318 July 2001
Snowe S.1694 April 1996
Snowe S.1995 March 2001
Senate hearing on S.1322 July 2000
Senate hearing on S.89 May 1998
Senate hearing on S.318 S.382 February 2002
Slaughter H.R.2748 December 1995
Slaughter H.R.306 Snowe S.89 January 1997
Slaughter H.R. 602 Daschle S.318 Snowe S.382
February 2001
Daschle S.1322 Slaughter H.R.2457 July 1999
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NPR All Things Considered coverage of H.R.493
March 2007
Bush issues SAP on S.306 February 2005
SACGHS releases Public Perspectives on Genetic
Discrimination November 2004
Washington Times Newt Gingrich and Robert Egge
editorial supports GINA April 2007
Coalition for Genetic Fairness holds Hill
briefing July 2006
Science Genetic Discrimination Time to
Act Collins et al October 2003
SACGHS letter to Sec. Leavitt supporting
H.R.1227 May 2005
Washington Times coverage of H.R.493 March 2007
New York Times Bush calls for genetic
anti-discrimination legislation January 2007
Bush issues SAP on S.1053 October 2003
2003
2004
2005
2006
2007
Slaughter H.R.493 Snowe S.358 January 2007
House Energy and Commerce Committee approves
H.R.493 March 2007
Senate passes S.306 (98-0) February 2005
Senate passes S.1053 (95-0) October 2003
Slaughter H.R.1910 SnoweS.1053 May 2003
Senate HELP Committee approves S.358 January 2007
House Ways and Means Committee approves
H.R.493 March 2007
House Ed and Labor Committee approves
H.R.493 February 2007
Snowe S.306 February 2005
Senate HELP Committee approves S.1053 May 2003
Biggert H.R.1227 March 2005
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So What Now?

• House - 224 co-sponsors
• Markup in Education and Labor
• Markup in Energy and Commerce
• Markup in Ways and Means
• Full House vote
• Senate Vote
• President for signing

ACLA Members can contact Representatives Vote
Yes on HR 493
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Genetic Testing Regulation
Genetic Alliance central to oversight activities
since 1997

• Senate Aging Committee Hearing
• GAO Report
• FTC Consumer Advisory
• Obama/Burr Bill
• Kennedy/Smith Bill
• CMS reneging on CLIA specialty
• Two FDA draft guidances
• FDA February 8 Hearing
• Two citizens petitions for rulemaking
• GA engagement with the Secretary

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Other Issues of Note

• Genome-wide association studies (GWAS)
• Evaluation of Genomic Applications in Practice
  and Prevention (EGAPP)
• Medical Device User Fee and Modernization Act of
  2002 reauthorization (MDUFMA)
• FDAs Critical Path to New Medical Products
• AHRQs evidence-based practice and Health
  Information Exchange
• HHS Personalized Healthcare Initiative
• Improving Health and Accelerating Personalized
  Health Care Through Health Information Technology
  and Genomic Information in Population- and
  Community-based Health Care Delivery Systems

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• Access to Quality Testing
• How will new bills or FDA guidances enable or
  impede quality testing?
• What are the associated costs - in every way?
• What are the associated delays for commercial
  adaptation?
• How to facilitate timely access?
• Do they balance access to powerful innovation
  with regulation that would improve clinical
  outcome for patients?
• Do they create new processes that will facilitate
  the integration of new technologies into
  traditional markets?

Note use of gerund - this is process
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• Innovation in the information and technological
  renaissance in healthcare
• The existing industrialized manufacturing
  regulatory model from the 19th century will not
  overlay well in a new era of information-based
  medicine.
• We want federal authorities and policymakers to
  be looking forward in this new age.
• We stand at the tipping point for dramatic and
  powerful advances in our understanding and
  potential management of disease pathways.
• The regulatory paradigm can either promote or
  stymie innovation, access, affordability and
  transparency.

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Our Challenge to Every Entity Involved Consider
each issue not from your own perspective, but
from the whole systems need - forget
turf. Create methods for supporting innovation
and access, transparency and accountability, that
all support novel solutions for the men, women
and children who depend on you to get it right,
so that they may live in health and strength and
comfort. Plan and execute action from WHAT
MATTERS FOR PATIENTS, and not only from the
limited perspective of advocacy, research,
regulation, laboratory, or industry.
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In our community a great deal is at stake, and
we need to get this right - now.
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Our Challenge to Every Entity Involved Consider
the issue not from your own perspective, but from
the whole systems need - forget turf. Create
methods for supporting innovation and access,
transparency and accountability, that all support
novel solutions for the men, women and children
who depend on you to get it right, so that they
may live in health and strength and
comfort. Plan and execute action from WHAT
MATTERS FOR PATIENTS, and not only from the
limited perspective of advocacy, research,
regulation, laboratory, or industry.
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• Next Steps?
• Leadership of ACLA and Genetic Alliance working
  together
• Presenting at each others meetings
• Introducing ACLA to Genetic Alliance
• Webinar on May 30, with Alan Mertz
• Galvanizing issues for Genetic Alliance and ACLA
  members
• Access to quality testing
• Appropriate oversight
• Reimbursement
• Healthcare information technology
• Advocacy/patient community understand the
  critical importance of the often forgotten
  laboratory industry.