Using assessments of biological and genetic risk to inform policy priorities: A community perspective

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Using assessments of biological and genetic risk
to inform policy priorities A community
perspective

• Dr Pritti Mehta
• Programme Manager (Equity and Access)
• Genetic Interest Group

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Key questions?

• What factors cause ethnic inequalities in health?
• To what extent do genetic risk factors contribute
  to population or ethnic differences in health?
• Do concepts of race or ethnicity have any
  biological meaning?
• How to use this information to inform policy
  priorities that will achieve beneficial societal
  outcome?

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Understanding and tackling ethnic inequalities in
health

• Differential access to services
• Quality of services
• Social and cultural influences
• Genetic/biological variation
• Foetal programming
• Migration
• Life events
• Socio-economic factors
• Racial discrimination
• Insufficient research to identify and address the
  underlying causes of variation

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To what extent do genetic risk factors contribute
to population or ethnic differences in health?

• Mendelian disorders such Sickle Cell Disease and
  Tay Sachs which have a clear genetic basis and
  show variation in prevalence across population or
  ethnic groups due to unequal distribution of the
  disease causing alleles
• Multi-factorial common conditions Although
  minority ethnic groups are often
  disproportionately affected - the genetic basis
  is still unclear and therefore need for further
  research to investigate gene environment
  interactions in multiple populations in order to
  answer these questions

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Do concepts of race or ethnicity have any
biological meaning?

• Meeting convened at the National Human Genome
  Centre at Howard University in Washington, D.C.
  on 15th May 2003 titled Human Genome Variation
  and Race The State of the Science. Brought
  together experts in sociology, anthropology,
  history and genetics

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Background

• Advent of molecular genetics and sequencing of
  the human genome
• Recent common genetic origin in Africa
• Greater genetic variation within populations that
  between populations
• These findings have lead to many well-intentioned
  statements by geneticists suggesting there is no
  connection between race/ethnicity and human
  genetic variation

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Where the consensus lies?

• Increasing scientific evidence that human genetic
  variation is geographically structured most
  individuals form the same geographic region will
  be more similar to one another than to
  individuals form a distant region.
• Genetic variation is continuous and overlapping
  and therefore populations are never pure with
  definite boundaries between individuals or
  populations (e.g. normally ascribed to races).
• Rainbows within rainbows.. Groups identified by
  ethnic or geographic labels maybe genetically
  highly internally structured.
• Worldwide patterns of genetic variation not well
  understood.

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Where the dispute lies?

• How to represent that portion of variation that
  does correlate with geography?
• Because there is some correlation between
  geographical origin and ethnicity/race it would
  be misleading to say that there is no connection
  between ethnicity and genetic variation
• However the connection is quite blurry because of
  multiple other non-genetic components of
  ethnicity, the lack of defined boundaries between
  populations and the fact that many individuals
  have mixed ancestry.

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Francis Collins US Director of the US National
Human Genome Research Institute (NHGRI)

• True understanding of disease risk requires us to
  go well beyond these weak imperfect proxy
  relationships and
• If we are not satisfied with imperfect surrogates
  in trying to understand hereditary causes, then
  we should not be satisfied with them as measures
  of environmental causation either.

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Conclusions

• Assessment of geographical origin, ancestry, or
  even race/ethnicity to determine genetic risk may
  in some cases prove biomedically useful.
• However direct assessment of the underlying
  genetic variation will ultimately yield more
  useful information.

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How to use this information to inform policy
priorities

• Translating these finding into policy principles
  will not be easy or straight-forward
• Risk assessments based on population differences
  or ethnicity should be properly assessed, with
  attempts made to remedy situations in which the
  use of such information is misleading or
  couter-productive
• Population affiliations alone maybe crude
  indicators e.g. failure to diagnose sickle cell
  disease in a European or cystic fibrosis in an
  Asian individual

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How to use this information to inform policy
priorities

• Proper consultation with community groups to
  assess acceptability and the psychosocial impact
  of these risk assessments
• However these debates should not hamper progress
  towards identifying new genetic knowledge that
  might benefit vulnerable groups Such as the need
  to carry out well-designed, large scale studies
  in multiple populations to identify underlying
  disease risk factors

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UK Biobank

• UK Biobank large scale prospective cohort study
  that aims to identify genetic and environmental
  influences on common disease
• Planning to sample minorities in proportion to
  the total UK population
• Will effectively exclude minorities because the
  numbers collected will not be sufficient to
  provide information about geneenvironment
  interactions specific to those groups

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UK Biobank

• Ultimately this will prejudice our knowledge of
  the genetic and environmental determinants of
  disease and may lead to greater inequalities in
  health.
• We strongly support Francis Collins view that
  over-recruitment of minorities is an essential
  component of any prospective cohort study of
  genes and environment. (Collins 2004).

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Concerns

• The inability to effectively inform policy and
  practice towards research and service delivery -
• May indeed widen ethnic health inequalities that
  arise from biological/genetic variation, due to
  knowledge gaps and resulting differential access
  to diagnosis and treatment options

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Responding to community specific needs

• A recent study in a UK child development centre
  in Bradford found that the prevalence of many
  non-malignant life threatening conditions was
  almost double the national average.
• Here 42 of births are of Pakistani origin

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Communication of risk

• Need to develop linguistically and culturally
  appropriate and accessible forms of communication
  to inform and raise awareness about different
  risk assessment programmes
• Develop these through consultation with target
  groups
• Note that concepts of risk can vary from
  individual to individual

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Community consultation comments

• On cousin marriage
• Make it clear, very sensitively so as to not
  sound like you are attacking individuals,
  cultures, religious beliefs, etc, that
  inter-family marriage increases risk of recessive
  genetic diseases, but not dominant genetic
  diseases., But dont exaggerate the risk..
  Explain that it depends on the specific disease/
  individual/ relationship between 2 specific
  people
• Must be very careful, as one misunderstanding
  can lead to the whole thing being misinterpreted,
  i.e., communities feeling as though you are
  attacking their particular culture

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Community consultation comments

• On pre-implantation diagnosis 
• pregnancy termination is unthinkable for many
  people of different cultures and may be
  religions.  For Somalis in Somalia and of course
  many in here it is not an option.  The leaflet
  should clearly state that if you are carrying a
  foetus with genetic disorder, termination is not
  compulsory nor the only option

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• Thank you