Public Policy Challenges in Genetics · 2008. 4. 16. · 2 NHGRI Current Topics in Genome Analysis 2008 Public Policy Challenges in Genetics Kathy Hudson, Ph.D. Growth of Genetic

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NHGRI Current Topics in Genome Analysis 2008Public Policy Challenges in Genetics

Kathy Hudson, Ph.D.

Public Policy Challenges inGenetics

Kathy Hudson, Ph.D.Genetics & Public Policy Center

Johns Hopkins University

www.DNApolicy.org

Key Prerequisites for Genetic Medicine

1. Robust and responsive researchenterprise

2. Safe and effective tests andinterventions

3. Improved guidelines developmentand adoption

4. Safeguards for genetic information

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Kathy Hudson, Ph.D.

Growth of Genetic Testing

Clinical Genetic Tests To…• Diagnose disease

– e.g. Cystic Fibrosis, sickle cell disease• Use in reproductive decision-making• Determine prognosis

– e.g. tumor profiling to determinerecurrence risk for breast cancer

• Predict risk for future disease inasymptomatic individuals– e.g. Huntington disease, hereditary

cancer

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Kathy Hudson, Ph.D.

Clinical Genetic Tests To…

• Select optimal treatments– e.g. Herceptin treatment in Her2/neu

positive breast cancer

• Identify risk foradverse drug reactions

e.g.CYP450 testing

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Kathy Hudson, Ph.D.

Reading the Book of JimThe co-discoverer of the double helix is makinghis DNA public, pioneering the 'personal genome.'

By Sharon BegleyNewsweekJune 4, 2007 issue - It would be amistake to think that reaching the ageof 79 has mellowed James Watson.Fifty-four years after he discovered,with Francis Crick, the structure ofDNA, and 45 years after sharing theNobel Prize for it, he delights inprovocation just as much as when hemade his reputation as the bad boy ofmolecular biology, bulldozingcolleagues and competitors (andusing crucial data generated by one,Rosalind Franklin) in his headlongrace to the double helix. In the yearssince, Watson built Cold SpringHarbor Laboratory in New York into abiology powerhouse, briefly led theHuman Genome Project—andendorsed designer babies, geneticengineering to make "all girls pretty"and curing "stupidity" throughgenetics. Which makes his words thisrainy May morning at the lab all themore surprising

Tuesday, September 04, 2007

Craig Venter's GenomeThe genomic pioneer bares his genetic code to theworld.By Emily Singer

Five years ago, Craig Venter let out a big secret. As president ofCelera Genomics, Venter had led the race between his companyand a government-funded project to decode the human genome.After leaving Celera in 2002, Venter announced that much of thegenome that had been sequenced there was his own. NowVenter and colleagues at the J. Craig Venter Institute havefinished the job, filling in the gaps from the initial sequence topublish the first personal genome.

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Kathy Hudson, Ph.D.

New Paradigm in Genetics?

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Kathy Hudson, Ph.D.

Genediscovery

BasicResearch

Clinical Research Practice Health

impact

The Old Way

The New Way

Creative Destruction???Joseph Schumpeter (1883-1950)

Transformation through radical innovationand entrepreneurship.

“process of industrial mutation thatincessantly revolutionizes the economicstructure from within, incessantlydestroying the old one, incessantlycreating a new one."

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Kathy Hudson, Ph.D.

W hat is DTC?

(1 )Direct access to testing by consumersw ithout health care provider interm ediary;OR

( 2 )Advert ising about the availab ility of ag enetic test to promote consumerdemand. Test itself requires health careprovider to order test and communicateresults.

Internet has been prim ary m eans ofd issem ination in both instances

Companies offering health-related tests DTCUpdated 4/2/08

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Kathy Hudson, Ph.D.

• Source of information forconsumers

• Direct access

• Personal control

• Opportunity for entrepreneurs

Prom ise of PersonalizedMedicine and Direct-to-

Consumer Genetic Testing

Concerns About DTC Marketing

• Consumers can’t understand genetic information; it iscomplicated.

• Consumers vulnerable to exaggerated claims.

• Consumers may get tested without adequatelyconsidering consequences to themselves and familymembers

• Consumers may forego standardtreatments or make dietary orlifestyle changes without provenbenefit

Need empirical data

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Kathy Hudson, Ph.D.

Concerns About DTC Marketing

• Companies may not adequately protect privacy ofgenetic information

• Test results may be used for discriminatory purposes

• The tests that are offered may not be valid

• The laboratories that perform the tests may not becompetent

• Test claims unsupported by evidence

• No legal barrier to surreptitious testingof another

• Quality genetic testing depends onquality oversight.

• Genetic tests have great potential toimprove health.

• Oversight of genetic testing is grosslyinadequate.

Genetictests

CMS FDA

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Kathy Hudson, Ph.D.

Current Oversig ht of GeneticTesting

• Laboratories

• Tests

• Claim s

• Clinical use

A fracturedoversig htsystem ,

w ith m anycracks,that

endang ersthe pub lic’s

health

DTC Permitted LimitedDTC Not Permitted

State DTC Testing Statutes and Regulations

Source: Genetics and Public Policy Center, http://www.dnapolicy.org/resources/DTCStateLawChart.pdf

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Kathy Hudson, Ph.D.

Federal Reg ulatory Environmentfor Genetic Testing

Genetic Testing

AdvertisingSale

FDA CDC CMS

Sale

Regulatesdrug s,devices,b iolog icalproducts,

human tissue

Certifies labs,personnelstandards,QA/QC, PT

Advice

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Kathy Hudson, Ph.D.

Oversight of Genetic TestingThe Two Path Problem

Non-FDAreviewed labdeveloped test.

FDAapproved test“kit”

The Two PathProb lem

• Adverse economic consequences

• Absence of public access to information

• Disparities in quality

• Risk to public health

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Kathy Hudson, Ph.D.

• Clinical laboratories are regulated under theClinical Laboratory Improvement Amendments of1988 (CLIA)

• Law intended to “assure consistent performanceby laboratories … of valid and reliable laboratoryexaminations”

• Standards must address: -quality assurance/quality control -record keeping -facilities and equipment -personnel -proficiency testing (*)

Regulat ion of ClinicalLaboratories in the United

States

• Prof iciency test ing ( PT)

• “a method of externally validating the levelof a laboratory’s performance”

• Cong ress stated that PT “should be thecentral element in determining a laboratory’scompetence, as it provides a measure of actualperformance on laboratory test proceduresrather than only gauging the potential foraccurate outcomes.”

Reg ulat ion of ClinicalLaboratories in the United

States

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Kathy Hudson, Ph.D.

• CLIA app lies to labs doing clinicalg enetic tests

• No m andate to perform prof iciencytest ing

• Voluntary prof iciency test ing ( throug hCAP) for ̃ 2 5 m olecular g enetic tests.

• CLIA does not evaluate clinical valid ity

• No pub lic access to inform ation

• No reach of CLIA to claim s and labels

Reg ulat ion of ClinicalLaboratories in the United

States

CMS Tim eline of Inaction19 9 7 NIH/DOE Task Force Recommendations

2 0 0 0 SACGT Recommendations

2 0 0 0 CDC issues Notice of Intent

April 2 0 0 6 CMS puts g enetic test ingreg ulatory enhancement onreg ulatory ag enda

September 2 0 0 6 CMS announces itw ill not issue revised reg ulat ions

September 2 0 0 6 GPPC f iles “petit ion forrulem aking ” w ith CMS along w ith GeneticAlliance and Pub lic Cit izen

August 2 0 0 7 CMS denies petit ion, cit ingcost and other concerns

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Kathy Hudson, Ph.D.

Oversight of Genetic TestingThe Two Path Problem

Non-FDAreviewed labdeveloped test.

FDAapproved test“kit”

FDA Regulation of Genetic Testing

• Test kits– Clinical validity included in submission– Authority over manufacturer or distributor

claims– Only a few genetic tests have been

reviewed by FDA as kits

• Laboratory-developed tests– Enforcement discretion

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Kathy Hudson, Ph.D.

Advertising

FTC

U.S.

Constitut ion

FDA

Prohib its false orm isleadingclaim s.

FTC has nottakenenforcementaction ag ainstany g enetic testads.

FirstAmendmentprotects speech,includ ingcommercialspeech, exceptunder verylim itedcircumstances.

No authorityover unreg ulatedarticles.

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Kathy Hudson, Ph.D.

Prob lem s w ith Genetic TestingOversig ht

• No PT requirement under CLIA

• No review of clinical valid ity

• No HHS authority over false claim s

• “Two paths” to m arket ared isincentive to seek FDA review ;lack of reg ulatory “level p layingf ield”

Recent Policy Activity

• Government

• Professional Societies

• Industry

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Kathy Hudson, Ph.D.

July 2 7 , 2 0 0 6 :

Senate Hearing , Special Comm ittee on Ag ing ,“At Home DNA Tests: Marketing Scam orMedical Breakthroug h”

“The results from all thetests GAO purchasedmislead consumers bymaking predictions thatare medically unprovenand so ambiguous thatthey do not providemeaningful informationto consumers.”

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Kathy Hudson, Ph.D.

Federal Trade Comm ission releases consumeradvisory, “At Home Genetic Tests: A Healthy Doseof Skepticism May Be the best Prescript ion” ( July2 0 0 6 )

“…some of these testslack scientific validity,and others providemedical results that aremeaningful only in thecontext of a full medicalevaluation.”

Legislation

• Laboratory Test Improvement Act(Kennedy-Smith)

• Genomics and Personalized MedicineAct (Obama-Burr)

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Kathy Hudson, Ph.D.

Secretary’s Advisory Committee onGenetics Health and Society

(SACGHS)• Secretary requested recommendations

on genetic testing oversight• Public draft release Nov. 2007• Final recommendations February 2008• Will be 4th set of recommendations on

the issue

SACGHS Recommendations

• PT requirement for all non-waived tests• Development of a mandatory registry

for lab-developed tests• Risk-based oversight of lab-developed

tests by FDA• Enhancement of enforcement actions

for non-compliance• Clinical utility assessment• Creation of electronic health records

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Kathy Hudson, Ph.D.

More rapid and flexible than government

Have appropriate scientific expertise

ACMG 2004 & 2008 Statements on DTC GeneticTesting

ASHG Statement on DTC Genetic Testing

Navigenics release of industry standards

The Role of Professional andIndustry Guidelines

ASHG Statement on DTC

*K. Hudson, G. Javitt, W. Burke, P. Byers, with the ASHG Social IssuesCommittee, Am. J.. Hum. Genetics, Sept. 2007

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Kathy Hudson, Ph.D.

ACMG Statement on DTC

Approved by the Board of Directors, American College of MedicalGenetics April 7, 2008

– A knowledgeable professional should be involved in theprocess of ordering and interpreting a genetic test.

– The consumer should be fully informed regarding what thetest can and cannot say about his or her health.

– The sceintific evidence on which a test is based should beclearly stated.

– The clinical laboratory must be accredited by CLIA, the stateand/or other applicable accrediting agencies.

– ACMG 2004 & 2008 Statements on DTC Genetic Testing

– Privacy concerns must be addressed.

1. Validity

2. Accuracy and quality

3. Clinical relevance

4. Actionability

5. Access to genetic counseling

6. Security and privacy

7. Ownership of genetic information

8. Physician education and engagement

9. Transparency

10. Measurement

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Kathy Hudson, Ph.D.

Goals of Genetic TestingOversight

• Appropriate laboratory oversight

• Level regulatory playing field that incentivizesdevelopment of validated tests

• Test regulation based on risk

• Mechanism for evidence development andtranslation into clinical practice

• Truthful, non-misleading claims about test benefitsand limitations






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Kathy Hudson, Ph.D.

Your health insurer

Your employer

Your doctor

Researchers studying genetics

Less Trust More Trust

86%

66%

How much do you trust each of the following to have access to your genetic test results?

None A little Some A lot

Genetics and Public Policy Center. http://www.dnapolicy.org. 2/27/07-3/4/07, N=1199 adults 18 years of age or older

75%

83%

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Kathy Hudson, Ph.D.

Health Insurance Portability and Accountability Act of 1996

(HIPAA) Group health plans may not establish

eligibility, enrollment, continuation orpremium requirements based on healthstatus-related factors.

Factors include medical conditions, claims experience, receipt of health care, medical history, genetic information, evidence of insurability, disability

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Kathy Hudson, Ph.D.

Americans with Disabilities Act

Provides protections against discriminationto those with:

1) a physical or mental impairment thatsubstantially limits one or more of themajor life activities of such individual;

2) a record of such an impairment; or

3) being regarded as having such animpairment.

Clinton Signs Executive Order BanningGenetic Discrimination

in the Federal Workplace

“By signing this executive order, my goal is toset an example and pose a challenge for everyemployer in America, because I believe noemployer should ever review your geneticrecords along with your resume.”February 8, 2000

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Kathy Hudson, Ph.D.

The Genetic InformationNondiscrimination Act

Prohibits group and individual health insurers fromusing genetic information in setting eligibility orpremium or contribution amounts.

Prohibits health insurers from requesting or requiringthat a person undergo a genetic test.

Prohibits employers from using genetic information inmaking employment decisions such as hiring, firing, jobassignments, and promotions.

Prohibits employers from requesting, requiring, orpurchasing genetic information about an employee orfamily member.

Status ReportIntroduced in 1995

Passed Senate in 2003

Passed Senate in 2005

Blocked in House by Employer Groups

2006 Election

Passed House April 25, 2007

Senate passage expected

Bush has said he will sign

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Kathy Hudson, Ph.D.

Department of DefensePersonnel Policy

•Provides medical coverage for enlistedmen/women

•Provides medical & disability benefits forretired service men/woman

REJECTED

•Served in the Marines for 14 years•Diagnosed with renal cell carcinoma &cerebellar nodules•Diagnosed with von Hippel-Lindaudisease•Requested medical discharge

Department of DefensePersonnel Policy

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Kathy Hudson, Ph.D.

E3.P4.5.2.2.1. Presumption. Any injury ordisease discovered after a service memberenters active duty -- with the exception ofcongenital and hereditary conditions -- ispresumed to have been incurred in the line ofduty;

DOD Instruction 1332.38

REJECTED






Public confidence

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Kathy Hudson, Ph.D.

“Laws and institutions must go hand inhand with the progress of the humanmind. As that becomes more developed,more enlightened, as new discoveries aremade, new truths disclosed and mannersand opinions change with the change ofcircumstances, institutions must advancealso and keep pace with the times."

Thomas Jefferson to Samuel Kercheval1816

Thanks to thePew Charitable Trusts

Documents

Public Policy Challenges in Genetics · 2008. 4. 16. · 2 NHGRI Current Topics in Genome Analysis 2008 Public Policy Challenges in Genetics Kathy Hudson, Ph.D. Growth of Genetic