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Biobanking and genomic research: Some special needs

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Title: Biobanking and genomic research: Some special needs


1
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2
Biobanking andgenomic researchSome special
needs
  • William W. Lowrance, PhD
  • (lowrance_at_iprolink.ch)
  • September 27, 2007

3
Need to make clearer distinctions among the
kinds of data
  • Biobanks, major platforms of data
  • and biospecimens curated as broad resources -
    banks - for research
  • Genetic/genomic project data and biospecimen
    collections, cordoned-off
  • by research protections
  • Clinical genetic test data, held under
  • medical confidentiality

4
Distinctions, cont.
  • Genetic-related public-health data,
  • protected by public-health laws
  • Other sets of biological materials and derived
    data, such as forensic collections, held under
    various regimes.
  • Failure to make firm distinctions is causing
    serious confusion in dialogue and regulation!

5
Genetic/ genomic/ biobank exceptualism? My
view is that
  • Clinical genetic-test and related data should be
    treated like other sensitive medical data
  • But until a number of issues get sorted-out and
    reliable protections are in place, most genomic
    and research biobank data deserve special
    attention.

6
Need to refine aspects of the whole suite of
research protections
  • - Informed consent
  • - De-identification
  • - Research-ethics oversight
  • - Safeguards
  • - Data-release policies and practices
  • - Barriers against access for
  • non-research purposes
  • - Sanctions against misuse.

7
Need to rethink the construal of consent
  • Traditionally, consent has been meant to be
    "fully informed"
  • But biobanking and genomic data,
  • and their risks, are very difficult for most
    people to comprehend
  • So, in consenting informed of what?

8
In my view, consent negotiations should inform
of
  • - the purposes
  • - the overall plan and any data- or
  • specimen-collecting that may involve
  • them directly
  • - the disclosure risks generally
  • - the auspices and protections that
  • make "the deal" trust-worthy
  • - anything else asked about.

9
Need to cope with identifiability
  • The challenge is that genomic data
  • - are extensive
  • - are very fine-grained
  • - influence many personal attributes
  • - hold implications about family
  • - are intrinsic to the body
  • - don't change during the lifetime
  • - are unique to the individual.

10
Identifiability, cont.
  • Whether and how to de-identify depends on the
    character of the data, the intended uses,
    consent, disclosure risks, and safeguards.
  • As an alternative or complement to
  • de-identification, controlled data-release
    should be seriously considered.

11
Need to improve data-release
  • For open release, must become clearer as to "how
    much" genome can be exposed without undue
    disclosure risk
  • For controlled release, must attend to the terms
    of release agreements, stewardship, security, and
    enforcement.
  • Ref Lowrance and Collins,
  • "Identifiability in genomic research,"
  • Science 317, 600-602 (August 3, 2007).

12
In all of this
  • We must facilitate health research for the
    collective public good and at the same time
    protect the individuals with whom the data and
    biospecimens were, or are, associated!

13
Biobanks Balancing Existing Norms and Emerging
NeedsTimothy CaulfieldHealth Law Institute
An exploration of the justification for the
emerging consent policies
14
Biobanks
Exercise
Cancer
Asthma
Infectious
Consent?
Lifestyle
Med info
BioBank/Cohort - a research platform
Demo
Socio
Consent?
Public participants donate DNA sample, etc.
15
A shifting norm?
  • Pressures to move away from the autonomy driven
    consent model

Blanket/Broad/General Consent is a Deviation from
the Accepted Standard. When it comes to
biomedical research using biobanks, classical
informed consent is abandoned in favour of
general consent a less strict standard (Elger
and Caplan, 2006).
16
What is at stake
Autonomy Control of info, self determination, not
about risk
Confidentiality Protecting information
????
  • Fundamental right?
  • SCC (Labaye)

research in biobanks goes to the core of
individual autonomy and fundamental rights.
National Bioethics Commission (Greece) (2006).
17
Autonomy and Research
  • In part, the strength of autonomy in health
    law/research ethics is a reaction against the
    public worth of science argument

18
Policy and Research
  • If about autonomy (as a fundamental right) and if
    it applies to control of genetic and health
    information, what evidence is needed to override?
  • At a minimum, the onus is on those who want to
    impinge on the right (cant be presumed)

Public health
Convenience
Public good
Bias
New Consent Approach
Autonomy
19
  • Recommendation 9 Blanket consent for future
    research is only permissible in circumstances
    where anonymity of future data can be guaranteed
  • blanket future consent is only permissible where
    anonymity can be guaranteed, and there is no risk
    that unexpected results will filter back to the
    subjects concerned. If this guarantee is not
    possible, or if linking of data is necessary for
    the research, then specific consent to the
    specific research must be obtained.

20
Public Perception Research
  • A justification for a policy?

21
  • Themes from the research
  • People want control
  • Trust important
  • A minority dont want to contribute
  • Sensitivity around genetic information
  • If asked, re-consent an issue

22
Policy and Research
  • If it is about autonomy as a fundamental concept,
    what is the role of perception evidence?
  • Can a majority preference override a minority
    right?
  • If yes, what rights and when?

Reconcile emerging policies with existing norms
23
Privacy Population Genomics
A Simulated Marriage?
  • Pr Bartha Maria Knoppers
  • Canada Research Chair in Law and Medicine
  • Genetics and Society Project
  • University of Montreal

24
Wordwide, there are over 120 population-based
biobanks each with gt10,000 participants
25
Large population-based studies around the world
26
Council of Europe
CE Recommendation Rec(2006)4 of the Committee of
Ministers to member states on research on
biological materials of human origin, March 2006
Article 17 A population biobank is a collection
of biological materials that has the following
characteristics
  • The collection has a population basis
  • It is established, or has been converted, to
    supply biological materials or data derived
    therefrom for multiple future research projects
  • It contains biological materials and associated
    personal data, which may
  • include or be linked to genealogical, medical and
    lifestyle data and which maybe regularly updated
  • It receives and supplies materials in an
    organised manner.

27
Few issue clusters are identified by
researchers as so urgently needing resolution as
those surrounding confidentiality and
anonymisation. They are not unique to data
sharing activities, but they are central to
them.
Lowrance WW. Access to collections of data and
materials for health research. Medical Research
Council and Wellcome Trust, 2006, p.36
28
Knoppers BM, Saginur M. The Babel of genetic data
terminology. Nature Biotechnology. 2005
23(8)925-7
29
Identifiability Reasonable/PracticableCounc
il of Europe Recommendation No. R (97) 5 on
the Protection of Medical Data (Feb. 13, 1997)
  • An individual shall not be regarded as
    identifiable if identification requires an
    unreasonable amount of time and manpower. 

30
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31
Protection of Genetic Data Four Major Different
Normative Approaches to Genetic Information
  • Personal Information Approach - Genetic
    information in its definition of personal
    information.
  • Sensitive Information Approach Prohibits the
    processing for sensitive data unless law requires
    it, for public health purposes, or explicit
    consent is obtained.
  • Health or Medical Information Approach Covered
    expressly or impliedly by the definitions of
    health or medical information.
  • Genetic Information Approach Accords special
    status to genetic information and defines what
    constitutes genetic information and distinguishes
    it from other types of data, general personal
    information and health information.

32
Protection of Genetic Dataas Sensitive
InformationE.C. (Independent Expert Group)
Ethical, Legal and Social Aspects of Genetic
Testing Research, Development and Clinical
Applications (2004)
  • Genetic data of importance in a clinical and/or
    family context should receive the same level of
    protection as other comparably sensitive medical
    data.

33
Protection of Genetic Data as Personal
  • PIPEDA does not use the term genetic
    information in the definition, it is clear that
    the comprehensive definition of personal health
    information includes protection for an
    individual's genetic information.

Source Matthew Taylor Human Rights Issues
Related to Genetic Information and Privacy in A
Brave New World Where Biotechnology and Human
Rights Intersect  (2005)
34
Public Population Project in Genomics
  • A consortium dedicated to fostering international
    collaboration between researchers and projects in
    the field of population genomics

www.p3gconsortium.org
35
Major goals of P3G
  • boost sample sizes to several million subjects
  • allow powerful gene-environment studies of most
    common diseases within 10 years instead of 15-25
    years.
  • address needs for replication
  • allow comparisons of genetic effects in different
    environments
  • sharing the large costs across nations
  • enhance the exchange of information

36
P3G Charter Members
Founding Charter Members
37
How long does it take to reach 10,000 cases in a
cohort with 500,000 cases?
Paul Burton, UK BioBank Technical Report 2005
38
P3G Working groups
Genomics and Biochemical Investigations Knowledge
Curation and Information Technology Ethics,
Governance and Public Engagement Epidemiology and
Biostatistics
39
DESIGN OF STUDIES
CONTEMPORARY BIOBANKING
Reference Tools for Power Calculation
INFORMATION COLLECTION/ PROCESSING
Consensus definition of terms in the field of
biobanking
Reference procedures for sample collection,
management and storage
P3G Observatory
KNOWLEDGE TRANSFER
ETHICS AND GOVERNANCE
Reference tools for preparation of publications
Guiding Principles, Legislation, and Background
Papers on Population Genomics
STATISTICS
IT AND COMPUTER SCIENCE
Genotyping data analysis Public Databases Tag
SNP Selection Programs Genotypes Analysis
Software
Reference tools for statistical analysis
40
Characteristics of the generic data set
  • Comprehensive enough to ensure the realization of
    valid research
  • Small enough to encourage buy-in.
  • NOT a prescriptive list of all the variables to
    be collected by a biobank
  • 100 data items (essential and extended) and 100
    optional items
  • 15-25 of the data items covered in a specific
    biobank
  • Approach in genetics consent, confidentiality,
    access, commercialization, and governance

41
Examples
Aliquot A portion of a sample of biological
material that has been divided into separated
parts. AnonymizationThe irreversible removal of
personal identifiers from data or samples, such
that no specific individual can be identified.
Audit A documented review of procedures in
order to evaluate adherence to written standards
operating practices (SOPs) or laws and
regulations (adapted from ISBER Best Practices,
2005). Biobank/biorepository An organized
collection of human biological material and
associated information stored for one or more
research purposes
42
P3G Charter of Fundamental Principles
  • PROMOTION OF THE COMMON GOOD - P3G will optimise
    the benefits of collaborative research
    publicly-funded research for the benefit of all.
  • RESPONSIBILITY - Protection of the interests of
    all affected stakeholders including families,
    groups, populations, researchers and research
    sponsors is the highest priority. Every effort
    will be made to respond to the concerns of
    stakeholders in a timely and appropriate manner.
  • MUTUAL RESPECT - The development and
    sustainability of P3G is based on responsibility,
    collaboration, co-operation, trust and mutual
    respect for others, which includes recognition of
    cultural diversity and the scientific specificity
    of the projects involved
  • ACCOUNTABILITY - All standards, processes and
    procedures will be transparent and clear,
    developed on the basis of consensus, and aim to
    create best practice in the networking of
    population genomics resources.
  • PROPORTIONALITY - All research materials (such as
    data and sample) must be protected to the highest
    standards of privacy and propriety, while at the
    same time allowing and promoting the free
    exchange of ideas, data sharing and openness for
    the benefit of all.

43
CARTaGENE project
44
Samples and Data Access Policy
Objectives of the project General
Principles Samples and Data Access
Committee Samples and Data Access Limits on the
Use of CARTaGENE Privacy Concerns Access to
Information for Participants Material Transfer
Agreement
45
HUGO Ethics Committee
Statement on Human Genomic Databases, 2002
Recognizing The potential global good arising
from genetic research The scientific and
clinical uses of genomic databases The
potential for conflicts between the free flow of
information that is crucial to research advances
and the legitimate rights to return from research
expenditure The potential risk of misusing
genetic data The need to rapidly place primary
genomic sequences in the public domain.
46
HUGO Ethics Committee (continued)
Statement on Human Genomic Databases, 2002
  • Recommendations
  • Human genomic databases are global public goods.
  • Knowledge useful to human health belongs to
    humanity.
  • Human genomic databases are a public resource.
  • All humans should share in and have access to the
    benefits of databases

47
Privacy Population GenomicsA Real Marriage?
  •  accepting benefit from past medical research,
    inherent in the utilisation of medical services,
    carries some expectation of a willingness to
    participate in research for the common good 

Bioethics Advisory Committee, Personal
Information in Biomedical Research, Singapore,
2007
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