An overview of the ethical, legal and social issues that will need to be addressed in the Global Globin 2020 Challenge

1. www.humanvariomeproject.org/GG2020
GG2020 CHALLENGE
ETHICAL, LEGAL AND SOCIAL ISSUES – ELSI
What are our responsibilities and obligations? How do we fulfil them?
30 -31 May – UNESCO - 2016

2. www.humanvariomeproject.org/GG2020
A
Countries where services are well established with a national system for prevention and control
B
Countries where some elements of a national control program exist but it is not available to all; more
effort is needed in areas like:
i. Improving access to services
ii. Raising awareness among families and patients, health professionals and community in general
iii. Establishing national centres of excellence/expertise to provide advice, measure progress
iv. Ensuring that savings from disease prevention are returned back to expand and improve services
C Countries where expertise in diagnosis, treatment, management and prevention exist but is not part
of a sustainable national control program
D Countries where services are limited or not available

3. www.humanvariomeproject.org/GG2020
1 Background & Epidemiology
1. Incidence/prevalence of Thalassemia/SCD in your
country
2. What is known about the disease burden in your
country?
3. Is there any central reporting of cases? (y/n)
4. What information is readily available and what is
the quality?
5. Is there any national coordination?
6. Primary health care delivery – are
haemoglobinopathies included?
7. Is there a national screening service for
haemoglobinopathies?
ELSI IMPLICATIONS
Understand the processes already in place
for consent/privacy for
• Reporting of cases
• Disease registries
• For conduct of research
• For clinical services
• Screening services

4. www.humanvariomeproject.org/GG2020
3 National Registry For Haemoglobinopathies
1. Is there a national registry for Thalassaemia /
SCD of some kind?
2. Who is responsible for it?
3. Who pays for it?
4. Who has access to the registry and how is
access regulated?
ELSI IMPLICATIONS
Identify the key players, decision makers at
national level, - who is responsible for what?
Who would decide on access?
If access is restrictive – what arguments,
evidence might lead to change?

5. www.humanvariomeproject.org/GG2020
4 Databases – collecting and sharing variant information
1 Is there a national database of some kind?
• If so – who responsible for it?, Who pays for
it?
• If so what is in the database: which genes,
variants ? Is genotype and phenotype
information available? SNPs?
• If not – would it be possible to establish one
in the next year?
2 Is clinical information available?
• If so – describe; Hb analysis, FBC, nutritional
anaemia etc?
• If not – how difficult would it be to start?
ELSI IMPLICATIONS
As before –
Can you learn from what others have done in
their area – other diseases? Other countries?
Make a distinction between issues – solve
simpler issues before tackling more complex
ones

6. www.humanvariomeproject.org/GG2020
5 National resources - availability
Please describe -
• Sources of funding available in your country
• Technical assistance –training and equipment
available in your country
• Research:- any national research projects exist
that are directed to haemoglobinopathies?
• Any international research project /
collaboration exist?
ELSI IMPLICATIONS
What technical assistance is available for
handling ELS issues? Are there government,
religious bodies, research centres that can
assist in your country, region ?

7. www.humanvariomeproject.org/GG2020
6 Problems/Constraints/Challenges
In relation to treatment and prevention:-
Treatment:- supportive measures ; national blood
transfusion services, Iron chelation & medications;
what type of Iron chelation is available in your
country?
Counselling/prevention services
- Genetic counselling to patients & families ?
- Prenatal diagnosis?
- Carrier detection ?
- Premarital counselling?
Other issues
ELSI IMPLICATIONS
Treatment and prevention strategies may
be underpinned by ELS issues beyond those
of variant data sharing but they need to be
harmonised and aligned

8. www.humanvariomeproject.org/GG2020
7 Recommendations/Plans
1. What our country wants to get out of
GG2020 by 2020
2. Do you have any suggestions for
funding/support?
3. Any recommendation for joint research?
ELSI IMPLICATIONS
Given your future plans – how will you
address ELS issues in your plans?
Who needs to work with you?

9. www.humanvariomeproject.org/GG2020
8 Affiliated Society/Association
• Is there a national society / association for
Thalassemia/ Sickle Cell Disease in your country
• Is your country a member of Thalassemia
International Federation (TIF)?
• Relationship to National Society of Human
Genetics and Genomics – are they interested in
haemoglobinopathies?
ELSI IMPLICATIONS
Can these stakeholders work with you?
Can you learn from them?
Do you have mutual interests?

10. www.humanvariomeproject.org/GG2020
Developing models for data sharing in GG2020
Knowing -
Who is generating data
Who is using/will use this data
Who is curating the data
What bodies can help

11. www.humanvariomeproject.org/GG2020
Lessons from BRCA Challenge for GG2020….
Data sharing models are still under discussion –
But BRCA Exchange looks to follow the ClinVar model-
• Only variant level data and some supporting evidence is shared, and then only in a de-identified form
• Individual data never leaves the laboratory that submitted it
• Consent is not required to share variant level data (refer Clinvar web-site – “Guidance for Clinical Laboratory
Submissions of variants to ClinVar”)
• If an individual lab feels that consent is required, then ClinVar also has suggestions for how this consent
should be sought and formatted
• That consent has been sought is self-reported – ‘self-attestation’ – hence submitters areresponsible and
accountable for meeting their own local requirements
• BRCA Exchange is currently focussed on making already publically available data available more broadly -
internationally

12. www.humanvariomeproject.org/GG2020
Way ahead….
• Think about what we will need in future
• Determine the interests of all those involved – multidisciplinary solutions
• Likely to be a federated model – harmonised approaches that meet internationally agreed standards
• Initiatives like GG2020 and BRCA Exchange are designed to contribute to solving these issues by –
o Bring the issues for the foreground and defining them in a way that can led to solutions
o Providing places for these issues to be discussed in a collaborative and inclusive manner – everyone can
be heard
o Sharing of information and ideas between various legal, religious and cultural contexts
o Helping to create mechanisms and processes for resolving issues in a participative manner
o Addressing the ‘chill’ of inaction