Similaire à NACCHO 2018 National Conference – Improving the clinical benefits of genetic health services for Aboriginal and Torres Strait Islander people
Accelerating the benefits of genomics worldwideJoaquin Dopazo
Similaire à NACCHO 2018 National Conference – Improving the clinical benefits of genetic health services for Aboriginal and Torres Strait Islander people (20)
2. Aims
1) To increase awareness of what genetic services are available and improve understanding of how to refer
Aboriginal and/or Torres Strait Islander patients to services.
2) To explore avenues in supporting primary care providers as genomic medicine becomes increasingly
integrated into mainstream health care.
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4. Listening to the voices of Aboriginal people
Assess current approaches
• Community participant group
– File audits
– Patient journey methods and interviews
• Health provider and project steering group
Compare different approaches over time (NT)
• Pre and post 2014
Capacity building and training
Implement culturally safe and appropriate initiatives
5. Clinical Benefits Key terms
Gene-A gene is the basic physical and functional unit of heredity. Genes are made up of DNA.
Genome-the complete set of genes or genetic material present in a cell or organism.
Chromosome-Chromosomes are important parts of a cell. They are the parts which carry the genes. We are
meant to have 23 pairs of chromosomes, a total of 46 chromosomes, with one in each pair inherited from
each parent.
Allele-An allele is a variant form of a gene. Some genes have a variety of different forms, which are located
at the same position, or genetic locus, on a chromosome.
Autosomal recessive/dominant-dominant means that only one allelle associated with a condition needs to
be present for the condition to emerge, recessive means that only both alleles need to affected.
Clinical genetics-Clinical Genetics is the medical specialty which provides a diagnostic service and "genetic
counselling" for individuals or families with, or at risk of, conditions which may have a genetic basis.
Genomic medicine- an emerging medical discipline that involves using genomic information about an
individual as part of their clinical care (e.g., for diagnostic or therapeutic decision-making) and the health
outcomes and policy implications of that clinical use.
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6. Clinical benefits of knowing about genetic
genomic conditions
Treatment (eg. PKU)
Genetically genomically tailored treatments/medicines
Gene editing
Diagnosis
• Reproductive confidence
• Access to trials
• Social support
• Community activism (e.g Tay Sachs)
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7. Equity in genetic/genomic medicine
Referral
• Referring services
accessible,
acceptable,
affordable, and
available
• Appropriate
referral across the
population
Diagnosis
• Genetic/genomic
testing &
counselling
accessible,
acceptable,
affordable, and
available
• Appropriate
reference data
Support/choice
Treatment/Trials
• Psychosocial
support
• Reproductive
confidence
• Treatment
developed
• Health services,
medicines&/or
trials accessible,
acceptable,
affordable, and
available
Clinical benefit
• Clinical benefits
equitably
distributed
• Community
awareness/
activism
supported
9. Referral
Aboriginal people 3 –fold underrepresented in clinical genetic services
Almost all referrals come form specialist services (WA, NT)
Concern about stigmatisation as a result of research with no clinical benefit
• “Vampire project”
Willing to engage in these health services for clinical benefit
• “we don’t want our mob to miss out”
Higher engagement in cohort studies then would be expected
Difficulty in recognising genetic conditions among Aboriginal people
• Misattributing lack of responsiveness to medicines (Inuit, pancreatitis)
• Failure to recognise conditions particularly in Aboriginal people (FASD)
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13. The power of a diagnosis
Giving Certainty
Removing Isolation
Reducing unnecessary investigations
Promoting access to best practice medical care.
Clarifying recurrence risk
Improving access to social and educational services
Unlocking new knowledge for innovation
14. Importance of local information for diagnosis
In medicine, the basis of diagnosis and treatment is understanding the range of normal variation
Normal variation is community specific
Genetic information i.e. Genomics
Non-Genetic information
• Variation in form, function, behaviour i.e. Phenotype - Phenomics
15.
16. HGDP population ancestral allele frequency distributions for the rs16891982 SNP
Hsu et al. BMC Medical Genetics 2013 14:62
21. Virtuous and Vicious cycle
Virtuous Cycle
• Inclusive practice leads to benefits for affected
individuals
• Diversity increases the likelihood that potential
treatments will be found-particularly for rare
diseases
• Diversity in clinical trials increases recruitment
and rigour of the results
• Range of clinical treatments available increases
and health equity improves
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Vicious cycle
• Benefit is not delivered to all parts of the
population
• Homogeneity limits the treatments that will be
developed
• Clinical trials struggle with recruitment and
results are limited in their generalisability
• Treatments remain narrow and only targetted
at a small part of the population and health
equity worsens
Referral inuit 23% prev 10 times diabetes, ab FASD pancreatitis, Diagnosis, the costs of non-invasive pre-natal testing (NIPT) are between $500-1400[6]. The test is not currently covered by Medical Benefits Schedule (MBS) although it is under review by Medical Services Advisory Committee. It has been argued that prohibitive costs have forced poorer families into having unnecessary invasive tests which in turn raises their risk of miscarriage[4]. The geographic distribution of MBS-funded testing varies dramatically throughout Australia. For example, in 2015/2016 the rate was 25 per 1000 in the ACT compared to 3 per 1000 in the NT. Need for appropriate reference data, cardiac myopathy, 10 year odyssey “gift from western desert to the world” . Benefits of diagnosis psychosocial Tay-Sachs, vicious cycle where in equity in research leads to inequity in treatment.
