dr. joe boone “constructing the oversight for genetic testing in the us”

8/14/2019 Dr. Joe Boone Constructing the Oversight for Genetic Testing in the US

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Constructing Oversightof Genetic Testing

in the USA

D. Joe Boone, Ph.D.Acting Director,

Division of Laboratory SystemsCenters for Disease Control and Prevention (CDC)

Kitasato UniversityTokyo, Japan

16 March, 2008


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Outline

BackgroundGenetic Exceptionalism

Scope: Laboratory versus Care Providers

Advisory Committees

Current Oversight Role in research and test development

Role in laboratory practice

Role in access and reimbursement Role in surveillance

Possible changes in future oversight


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Background

Are genetic tests different from other laboratory tests? Can predict individuals and family members future health

Germline mutations do not change during lifetime Can be used to discriminate against an individual

Who is and who is not covered by US regulation? Manufacturers ofin vitroDiagnostic (IVD) kits and Instruments

Laboratory practice for those offering tests for clinical use - >200,000laboratories

Not clinical care provider practices

Who are the regulators?

US governmento CMS laboratorieso FDA R&D IDE, RUO, IVDs, and IVDMIAs

Bodies with delegated authority states (NY,WA) The Joint Commission,CAP, COLA

US Advisory Committees Secretarys Advisory Committee on Genetics, Health, and Society (SACGHS) Clinical Laboratory Improvement Advisory Committee (CLIAC)


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Current OversightResearch and Development

Research Phase

Gene Disease association (FDA, NIH)

Prototype/design (FDA design control)

Preclinical development (FDA IDE)

Clinical Development Phase

Test development - FDA (IVD/IVDMIA)

FDA Clearance (Class I,II,III)

Laboratory Developed Tests - LDT

CLIA (CMS or agent)

FDA (Analyte Specific Reagents ASRs)


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Current OversightLaboratory Practice

CLIA all clinical tests (Industry and LDTs) Administered by Centers for Medicare and Medicaid

Services (CMS) or CMS approved agents

Includes: Inspections every 2 years, personnel, QA,QC, PT

Tests regulated on the basis of test complexity high,moderate, waived

Tests regulated by specialty none for genetics

Tests must have analytical validity CMS approved agents can have more stringent

requirements than CMS


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Current OversightAccess and Reimbursement

All Industry developed IVDs cleared by FDA performed inCLIA certified laboratories

Clinical validity claims reviewed

All LDTs performed in CLIA certified laboratoriesNo exemption for research laboratories performing clinical tests

Clinical validity claims not explicitly required

Direct-to-Consumer tests for clinical purposes must beperformed in CLIA certified laboratories

Tests performed in CLIA-certified laboratories aregenerally eligible to receive Medicare (CMS), Medicaid(States), Private Insurance, other reimbursements


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Current OversightSurveillance

FDA monitors the field for violations of its requirements andconducts a limited amount of post-market surveillance

CMS responds to complaint-based violations of its requirements bycertified and non-certified laboratories

No exemption for research laboratories performing clinical tests

The Federal Trade Commission can penalize marketers for falseadvertising and has taken action to warn the public about Direct-to-Consumer vendors of genetic tests.

The Clinical Utility of selected genetic tests has been reviewed by the

CDC (Evaluation of Genomics Applications in Practice andPrevention (EGAPP), the NIH Collaboration, Education, and TestTranslation (CETT) program, and the US Preventive Services TaskForce.


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OversightFuture Activities

Adherence to International Guidelines and Standards

such as OECD and ISO 15189

PT for all non-waived genetic tests?

Genetic testing training for CLIA inspectors

More reference and QC materials (GeT-RM)

Enhanced data and information sharing


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More standards and guidelines from professional

groups

US registry for all genetic tests with data on

analytical and clinical validity, and clinical utility start with GeneTests

All LDTs addressed by FDA?

Good laboratory practices MMWR publication

Clinical validity risk management approach to tests


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Enforcement focused on laboratories who seem to be

avoiding oversight

DTC for health-related purposes deserves increased scrutiny

Increase the quality and amount of clinical utility information

what is the standard of evidence required?

Surveillance of health outcomes to determine what works and

what does not

Define and address knowledge gaps

Clinical decision support systems need to be developed Better collaboration, communication, and coordination of the

limited resources available


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throm

bosis

heart

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myocardialinfraction

Type

2diabetes

Type

1diabetes

celiac

disease

drug

response

osteo

porosis

Alzhe

imer

cance

r

gener

alnutrition

glaucoma/AMD

hemo

chromatosis

obesity

infertility

RPL(

FVL)

fetalgender

metab

olichealth

multip

esclerosis

pregn

ancyloss

cystic

fibrosis

HIVresponse

addiction

bipola

rdisorder

arthrit

is

asthm

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athleticperformance

gastro

intestinaldiseas

Parkinson's

narco

lepsy

skinp

rofile

period

ontaldisease

23andMe X X X X X X X X X X X

Acu-gen Biolabs X

Consumer Genetics, Inc. X X

CyGene Direct X X X X X

DeCode X X X X X X X X X X X

Dermagenetics X

DNA Direct X X X X X X X X X

G-nostics X

Genelex X X X X X X X XGenetic Health X X X X X X X

Graceful Earth X

Health Check USA X X X

Health Tests Direct X X X

Holistic Heal X

MediChecks X X X

Medigenomix X X X

My Genome X X X X X X

Navigenetics

Psynomics XQuixtar - Interleukin Genetics X X

Salugen X X

Scientific Match X

Sciona X X X

Smart Genetics X

Suracell X

Dr. Kathy Hudson, Genetics and Public Policy Center, Johns Hopkins Univ., USA

Direct-to-Consumer Tests Offered on the Internet


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Oversight must be Global

Requires collaboration, coordination

Country differences must be respected

We all need reliable decision support tools We all have limited resources

We are all accountable to the public


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dr. joe boone “constructing the oversight for genetic testing in the us”

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