This document provides a summary of genetics healthcare provision in Scotland. It discusses: 1) The structure of the National Health Service in Scotland, including the 14 regional health boards and 8 specialist health boards that deliver healthcare. 2) The services provided by regional genetics departments, including clinical genetics, molecular genetics, cytogenetics, and biochemical genetics. 3) The policy context in the UK and Scotland that guides genetics healthcare, research ethics, and testing. Key advisory bodies like the Emerging Science and Bioethics Advisory Committee and UK Genetic Testing Network are mentioned. 4) How genetics services in Scotland are commissioned and funded, including the role of the National Services Division and Scottish Genetics Laboratory Consortium in

1. Provision of Genetics
Healthcare in Scotland:
Logistics and Ethics
Dr Gary Kerr
A lecture for the University of Glasgow
MSc (Med Sci) in Medical Genetics

2. Objectives
• To introduce the concept of the National Health Service
(NHS)
• To describe how NHS Scotland is structured and regulated
• To describe the provision of genetics healthcare services in
Scotland
• To introduce genetics healthcare within a policy context
• Class discussion of ethical issues in genetics healthcare and
exposure to ‘grey areas’ *** WARNING – CRITICAL
THINKING REQUIRED***

3. Healthcare in the United Kingdom
• Healthcare is provided by the National Health Service
• Established in 1948 by Aneurin Bevan
• Good healthcare should be available to all, regardless of wealth

4. Principles of the NHS
1
• Access to healthcare is based on clinical need, not an individual’s ability
to pay
2 • NHS must meet the needs of everyone
3 • Healthcare must be free at the point of delivery
4
• The NHS provides a comprehensive service regardless of gender, race,
disability, age, sexual orientation, religion or belief
5
• The NHS aspires to the highest standards of excellence and
professionalism
6
• NHS services must reflect the needs and preferences of patients, their
families and their carers
7
• The NHS works in partnership with other organisations in the interest of
patients, local communities and the wider population
8 • The NHS is committed to sustainability and providing value-for-money
9 • The NHS is accountable to the public, communities and patients

5. NHS Scotland
• NHS Scotland is the national provider of healthcare in Scotland
• NHS Scotland comprises:
– 14 Regional Health Boards
– 8 Specialist Health Boards

6. Specialist Health Board Remit
NHS Education for Scotland NHS workforce education, training &
development
NHS Health Scotland Improving health & tackling inequalities
in health
NHS National Services
Scotland
Improving efficiency across NHS
Scotland (finance, IT, business)
NHS24 Telephone service that offers advice
about health (08454 24 24 24)
Healthcare Improvement
Scotland
Ensure high-quality, evidence-based,
safe and effective healthcare
The State Hospital One of 4 high security hospitals in the
UK
The Golden Jubilee National
Hospital
Scotland’s flagship hospital for reducing
national waiting times in specialities
Scottish Ambulance Service Emergency response; Patient
transportation; Major incidents

7. Regional Genetics Services

8. What are Genetics Services?
Clinical Genetics
 Face of Genetics Services
 Outpatient speciality
 Pedigree analysis (family history)
 Taking samples for further testing
 Genetic counselling
 Communicating complex information
 Provide information about risk
 Discussions about options,
therapies, diagnostic testing, disease
management, support groups
 Diagnosis of rare genetic conditions
 Co-ordination of screening for
specific rare syndromes
 Multidisciplinary working
Molecular Genetics
(‘DNA labs’)
Genetic testing for specific changes
(mutations) in the genome e.g.
BRCA1, BRCA2
Cytogenetics
(‘Chromosome labs’)
Test for chromosome abnormalities
e.g. Down syndrome
Biochemical Genetics
Test for unusual protein levels
e.g. Scottish Newborn Screening
Laboratory (Glasgow)

9. Policy Context of Genetics Healthcare
UK Government Scottish Government
Provision of healthcare in
England (NHS)
Provision of healthcare in
Scotland (NHS Scotland)
Science Policy
Scientific Research
Research Ethics
Genetic Testing
Assisted Conception (IVF,
PGD)
Xenotransplantation
Abortion

10. Emerging Science and Bioethics
Advisory Committee (ESBAC)
• Established in late 2012 to replace the Human Genetics
Commission (HGC)
• Located within the Department of Health (England) but
has broader UK remit
• Advise the 4 UK Health Ministers on emerging
healthcare scientific developments and their ethical,
legal, social and economic implications

11. UK Genetic Testing Network (UK GTN)
• UK GTN advises the NHS throughout the UK about genetic testing
for inheritable conditions
• UK GTN is a network of genetic testing laboratories, clinicians and
commissioners of genetic services and involves input from patient
groups
• UK GTN advises whether or not a test is likely to benefit patients
• If it is, UK GTN will make a recommendation to the Genetics
Commissioning Advisory Group (GenCAG)
• GenCAG will then request that the relevant commissioners provide
funding for the test
• In Scotland, NSD is responsible for commissioning genetic testing

12. National Services Division (NSD)
• NSD is a division of NHS National Services Scotland
• NSD responsible for commissioning & performance-managing
specialist services
• NSD aims to:
– Ensure equity of access for all Scottish residents to
specialist and screening services
– Ensure best possible clinical outcomes within the funding
available
– Provide funding for establishment & development of new
services
– Avoid the unnecessary duplication of services, thus
promoting clinical quality and cost effectiveness

13. Scottish Genetics Laboratory Consortium
• NSD funds the Scottish Genetics Laboratory Consortium
• Consortium determines which genetic tests the molecular
genetic & cytogenetic laboratories perform
• Consortium ensures that Scotland’s four regional genetics
services work together to avoid duplication and to provide
genetic testing for a wide range of conditions effectively
• Consortium aims to:
– Openly discuss and agree workload distributions in order
to make the most effective use of available resources
– Consider recommendations by UK GTN and GenCAG to
ensure that all tests undertaken are evidence-based
• Tests not available in Scotland are sourced from England

14. Review of Genetics in Relation to
Healthcare (Calman Review, 2006)
• Calman Review made a number of recommendations about genetic
healthcare in Scotland, with regards to staffing of services, public
engagement, clinical & laboratory services
• As a result, significant funding was made available to upgrade facilities and
to recruit more clinical, medical, scientific, nursing and administrative staff
• Extended the ‘consortium’ approach to include cytogenetic services
• Resulted in workflow balancing leading to lower reporting times
• Generation Scotland was established for population-wide studies. So far,
30,000 people have given DNA samples for analysis as a result of this
programme

15. Ethical discussion time…
• Working in small groups of 3 or 4, you each be
different ethical dilemmas faced in the provision of
genetics healthcare
• Write down the key ethical issues and prepare to
tell the class
– 1. Background of the case study
– 2. What is the ethical dilemma
– 3. What would your group do in this situation?
• There might be some disagreement in your group
(this is a good thing), so take all views in to
account

16. 10 minutes group discussion

17. The reality of ethical issues – When
in practice might you need to
consider these issues?
• Confidentiality
• Privacy
• Truth telling
• Duty of care
• Right to know – versus – right not to know

18. Ethics Models
• Utilitarian – best for the majority
– e.g. what is best for the community?
• Code of Conduct – doing your duty
– e.g. sometimes not always the ‘best’ option
• Virtue Ethics
– e.g. how does a person act?

19. Further Reading
www.scottish.parliament.uk/parliamentarybusiness/54023.aspx